CMMC: Schmutzler, Rita - assoc. RG 20

Abstract

Despite the progress in understanding the hereditary basis of familial breast and ovarian cancer, hereditary factors known today, such as changes in the BRCA1/2 genes, can only explain part of all familial cases. Recent data suggest that additional genetic and non-genetic components may contribute multifactorially to the disease and modulate disease risk in the presence of risk gene mutation.
Our goal is to further unravel the diverse architecture of breast and ovarian cancer, identify new risk factors and their interactions, and to make this knowledge available to patients through personalized risk prediction and cancer prevention. To achieve these goals, we work closely with international study groups and coordinate the German Consortium Familial Breast and Ovarian Cancer, which has attracted international attention by identifying new risk genes.

Identification of new risk genes

One focus of our research is the identification of new genes associated with an increased risk of breast and/or ovarian cancer. Since these additional genes are rarely mutated and probably only moderately increase the risk of disease, large collectives of well characterized patients are necessary to detect significant associations with the phenotype. For this purpose we have entered into national and international collaborations to identify additional risk genes. In the PERSPECTIVE study "personalized risk stratification for the prevention and early detection of breast cancer", which we are conducting with Prof. Jacques Simard (Genome Quebec, Canada) and other cooperation partners from the Netherlands and the USA, new candidate genes were identified by exome-wide analyses. For this purpose, exome sequencing was performed in about 1,500 breast cancer (BC) patients. We aim to genetically validate and functionally characterize the newly identified BC candidate risk genes to explore their putative role in BC pathogenesis by using patient-derived LCLs, mouse ES cells, and CRISPR/Cas9-mediated gene silencing. The results of this study will help to further improve the risk calculation for those seeking advice from families in which no mutation has been detected so far.

Polygenic Risk Score (PRS): low-risk variants for individual risk calculation

Results of our Genome-wide association studies (GWAS) showed that single nucleotide polymorphisms (SNPs) are associated with the risk of developing breast cancer. The risk of individual SNPs is low, so that they are not suitable for risk calculation on an individual basis. However, studies have shown that a combination of several SNPs can have an influence on the risk of developing breast cancer. It is now assumed that the currently known SNPs can explain approximately 18% of the familial breast cancer risk. The multiplicative effect of the variants can be summarized and the so-called PRS can be calculated. At present the calculations of the PRS are based only on models, which are usually limited to BRCA1/2 mutation carriers. A validation of the PRS, especially in familial breast cancer patients, is still pending. Furthermore, it has to be clarified whether the PRS can be applied to mutation carriers of further risk genes and whether a risk stratification of these patients based on the calculation of the PRS is possible. For this project, we are also working closely together with the other German breast cancer centers and international experts (Dr. Karoline Kuchenbäcker, University College London).

Influence of germline mutations on therapy response in patients with breast cancer

The goal of personalized treatment is to administer only those therapies to which patients actually respond. To investigate the effect of germline mutations on therapy response, we are involved in two studies of the German Breast Group (GBG). In the GeparSixto study (NCT01426880), we were able to show by examining the BRCA1/2 germline mutation status in patients with triple-negative breast cancer that BRCA1/2 mutation carriers generally respond well to the neoadjuvant therapy with anthracyclines and taxanes, but do not benefit additionally from the addition of carboplatin. GeparOcto (NCT02125344) is a Phase III clinical trial comparing two different treatment strategies in the treatment of primary breast cancer in high-risk patients. Patients were randomly assigned to one of the two therapeutic arms. In a genetic subproject of the study, we isolate the DNA of the study participants from blood and examine it by means of Next Generation Sequencing (NGS) for pathological germline mutations in the known breast cancer genes BRCA1 and BRCA2 and another 16 potential risk genes suspected to be associated with an increased breast cancer risk. The aim is to gain insight into whether and to what extent the genetic status has an influence on the response to therapy of those affected

Figure 1

Fig. 1: Summary of our treatment concept which enables the timely translation of our research results for the personalized treatment and consultation of patients and relatives seeking advice.

Clinical and Medical Relevance

Expanding the current understanding of genetic BC and OC predisposition is a prerequisite for the improvement of individualized risk prediction, cancer prevention by intensified surveillance programs and prophylactic measures and targeted therapy.
The translational impact of our data is supported by direct clinical implementation within the German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC), as recently shown for new BC/OC risk genes such as BRIP1 and BARD1.

Project Related Publications

Hahnen E, Lederer B, Hauke J, Loibl S, Kröber S, Schneeweiss A, Denkert C, Fasching PA, Blohmer JU, Jackisch C, Paepke S, Gerber B, Kümmel S, Schem C, Neidhardt G, Huober J, Rhiem K, Costa S, Altmüller J, Hanusch C, Thiele H, Müller V, Nürnberg P, Karn T, Nekljudova V, Untch M, von Minckwitz G, Schmutzler RK: Germline Mutation Status, Pathological Complete Response, and Disease-Free Survival in Triple-Negative Breast Cancer: Secondary Analysis of the GeparSixto Randomized Clinical Trial. JAMA Oncol 2017, 3(10):1378-1385.

Kuchenbaecker KB, Hopper JL, Barnes DR, Phillips KA, Mooij TM, Roos-Blom MJ, Jervis S, van Leeuwen FE, Milne RL, Andrieu N, Goldgar DE, Terry MB, Rookus MA, Easton DF, Antoniou AC, McGuffog L, Evans DG, Barrowdale D, Frost D, Adlard J, Ong KR, Izatt L, Tischkowitz M, Eeles R, Davidson R, Hodgson S, Ellis S, Nogues C, Lasset C, Stoppa-Lyonnet D, Fricker JP, Faivre L, Berthet P, Hooning MJ, van der Kolk LE, Kets CM, Adank MA, John EM, Chung WK, Andrulis IL, Southey M, Daly MB, Buys SS, Osorio A, Engel C, Kast K, Schmutzler RK, Caldes T, Jakubowska A, Simard J, Friedlander ML, McLachlan SA, Machackova E, Foretova L, Tan YY, Singer CF, Olah E, Gerdes AM, Arver B, Olsson H: Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers. Jama 2017, 317(23):2402-2416.

Michailidou K, Lindström S, Dennis J, Beesley J, several authors, Schmutzler RK, Schneeweiss A, Schoemaker MJ, Schumacher F, Schürmann P, Scott RJ, Scott C, Seal S, Seynaeve C, Shah M, Sharma P, Shen CY, Sheng G, Sherman ME, Shrubsole MJ, Shu XO, Smeets A, Sohn C, Southey MC, Spinelli JJ, Stegmaier C, Stewart-Brown S, Stone J, Stram DO, Surowy H, Swerdlow A, Tamimi R, Taylor JA, Tengström M, Teo SH, Beth Terry M, Tessier DC, Thanasitthichai S, Thöne K, Tollenaar R, Tomlinson I, Tong L, Torres D, Truong T, Tseng CC, Tsugane S, Ulmer HU, Ursin G, Untch M, Vachon C, van Asperen CJ, Van Den Berg D, van den Ouweland AMW, van der Kolk L, van der Luijt RB, Vincent D, Vollenweider J, Waisfisz Q, Wang-Gohrke S, Weinberg CR, Wendt C, Whittemore AS, Wildiers H, Willett W, Winqvist R, Wolk A, Wu AH, Xia L, Yamaji T, Yang XR, Har Yip C, Yoo KY, Yu JC, Zheng W, Zheng Y, Zhu B, Ziogas A, Ziv E, Lakhani SR, Antoniou AC, Droit A, Andrulis IL, Amos CI, Couch FJ, Pharoah PDP, Chang-Claude J, Hall P, Hunter DJ, Milne RL, García-Closas M, Schmidt MK, Chanock SJ, Dunning AM, Edwards SL, Bader GD, Chenevix-Trench G, Simard J, Kraft P, Easton DF: Association analysis identifies 65 new breast cancer risk loci. Nature 2017, 551(7678):92-94.

Neidhardt G, Hauke J, Ramser J, Groß E, Gehrig A, Müller CR, Kahlert AK, Hackmann K, Honisch E, Niederacher D, Heilmann-Heimbach S, Franke A, Lieb W, Thiele H, Altmüller J, Nürnberg P, Klaschik K, Ernst C, Ditsch N, Jessen F, Ramirez A, Wappenschmidt B, Engel C, Rhiem K, Meindl A, Schmutzler RK, Hahnen E: Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer. JAMA Oncol 2017, 3(9):1245-1248.

Pohl-Rescigno E, Hauke J, Loibl S, Möbus V, Denkert C, Fasching PA, Kayali M, Ernst C, Weber-Lassalle N, Hanusch C, Tesch H, Müller V, Altmüller J, Thiele H, Untch M, Lübbe K, Nürnberg P, Rhiem K, Furlanetto J, Lederer B, Jackisch C, Nekljudova V, Schmutzler RK, Schneeweiss A, Hahnen E: Association of Germline Variant Status With Therapy Response in High-risk Early-Stage Breast Cancer: A Secondary Analysis of the GeparOcto Randomized Clinical Trial. JAMA Oncol 2020, 6(5):744-748.

Silvestri V, Leslie G, Barnes DR, several authors ,Schmutzler RK, Senter L, Simard J, Singer CF, Solano AR, Southey MC, Steele L, Steinsnyder Z, Stoppa-Lyonnet D, Tan YY, Teixeira MR, Teo SH, Terry MB, Thomassen M, Toland AE, Torres-Esquius S, Tung N, van Asperen CJ, Vega A, Viel A, Vierstraete J, Wappenschmidt B, Weitzel JN, Wieme G, Yoon SY, Zorn KK, McGuffog L, Parsons MT, Hamann U, Greene MH, Kirk JA, Neuhausen SL, Rebbeck TR, Tischkowitz M, Chenevix-Trench G, Antoniou AC, Friedman E, Ottini L: Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). JAMA Oncol 2020, 6(8):1218-1230.

Weber-Lassalle N, Borde J, Weber-Lassalle K, Horváth J, Niederacher D, Arnold N, Kaulfuß S, Ernst C, Paul VG, Honisch E, Klaschik K, Volk AE, Kubisch C, Rapp S, Lichey N, Altmüller J, Lepkes L, Pohl-Rescigno E, Thiele H, Nürnberg P, Larsen M, Richters L, Rhiem K, Wappenschmidt B, Engel C, Meindl A, Schmutzler RK, Hahnen E, Hauke J: Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer. Breast Cancer Res 2019, 21(1):55.

Weber-Lassalle N, Hauke J, Ramser J, Richters L, Groß E, Blümcke B, Gehrig A, Kahlert AK, Müller CR, Hackmann K, Honisch E, Weber-Lassalle K, Niederacher D, Borde J, Thiele H, Ernst C, Altmüller J, Neidhardt G, Nürnberg P, Klaschik K, Schroeder C, Platzer K, Volk AE, Wang-Gohrke S, Just W, Auber B, Kubisch C, Schmidt G, Horvath J, Wappenschmidt B, Engel C, Arnold N, Dworniczak B, Rhiem K, Meindl A, Schmutzler RK, Hahnen E: BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer. Breast Cancer Res 2018, 20(1):7.

Yang X, Leslie G, Doroszuk A, Schneider S, several authors, Schmutzler R, Teo SH, Robson M, Pal T, Couch F, Weitzel JN, Elliott A, Southey M, Winqvist R, Easton DF, Foulkes WD, Antoniou AC, Tischkowitz M: Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families. J Clin Oncol 2020, 38(7):674-685.

Zhang H, Ahearn TU, Lecarpentier J, serveral authors, Schmutzler RK, Schneeweiss A, Schoemaker MJ, Schöttker B, Schürmann P, Senter L, Sharma P, Sherman ME, Shu XO, Singer CF, Smichkoska S, Soucy P, Southey MC, Spinelli JJ, Stone J, Stoppa-Lyonnet D, Swerdlow AJ, Szabo CI, Tamimi RM, Tapper WJ, Taylor JA, Teixeira MR, Terry M, Thomassen M, Thull DL, Tischkowitz M, Toland AE, Tollenaar R, Tomlinson I, Torres D, Troester MA, Truong T, Tung N, Untch M, Vachon CM, van den Ouweland AMW, van der Kolk LE, van Veen EM, vanRensburg EJ, Vega A, Wappenschmidt B, Weinberg CR, Weitzel JN, Wildiers H, Winqvist R, Wolk A, Yang XR, Yannoukakos D, Zheng W, Zorn KK, Milne RL, Kraft P, Simard J, Pharoah PDP, Michailidou K, Antoniou AC, Schmidt MK, Chenevix-Trench G, Easton DF, Chatterjee N, García-Closas M: Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses. Nat Genet 2020, 52(6):572-581.

Publications 2022

Ahearn TU, Zhang H, Michailidou K, Milne RL, Bolla MK, Dennis J, Dunning AM, Lush M, Wang Q, Andrulis IL, Anton-Culver H, Arndt V, Aronson KJ, Auer PL, Augustinsson A, Baten A, Becher H, Behrens S, Benitez J, Bermisheva M, Blomqvist C, Bojesen SE, Bonanni B, Borresen-Dale AL, Brauch H, Brenner H, Brooks-Wilson A, Bruning T, Burwinkel B, Buys SS, Canzian F, Castelao JE, Chang-Claude J, Chanock SJ, Chenevix-Trench G, Clarke CL, Collaborators N, Collee JM, Cox A, Cross SS, Czene K, Daly MB, Devilee P, Dork T, Dwek M, Eccles DM, Evans DG, Fasching PA, Figueroa J, Floris G, Gago-Dominguez M, Gapstur SM, Garcia-Saenz JA, Gaudet MM, Giles GG, Goldberg MS, Gonzalez-Neira A, Alnaes GIG, Grip M, Guenel P, Haiman CA, Hall P, Hamann U, Harkness EF, Heemskerk-Gerritsen BAM, Holleczek B, Hollestelle A, Hooning MJ, Hoover RN, Hopper JL, Howell A, Investigators A, kConFab AI, Jakimovska M, Jakubowska A, John EM, Jones ME, Jung A, Kaaks R, Kauppila S, Keeman R, Khusnutdinova E, Kitahara CM, Ko YD, Koutros S, Kristensen VN, Kruger U, Kubelka-Sabit K, Kurian AW, Kyriacou K, Lambrechts D, Lee DG, Lindblom A, Linet M, Lissowska J, Llaneza A, Lo WY, MacInnis RJ, Mannermaa A, Manoochehri M, Margolin S, Martinez ME, McLean C, Meindl A, Menon U, Nevanlinna H, Newman WG, Nodora J, Offit K, Olsson H, Orr N, Park-Simon TW, Patel AV, Peto J, Pita G, Plaseska-Karanfilska D, Prentice R, Punie K, Pylkas K, Radice P, Rennert G, Romero A, Rudiger T, Saloustros E, Sampson S, Sandler DP, Sawyer EJ, Schmutzler RK, Schoemaker MJ, Schottker B, Sherman ME, Shu XO, Smichkoska S, Southey MC, Spinelli JJ, Swerdlow AJ, Tamimi RM, Tapper WJ, Taylor JA, Teras LR, Terry MB, Torres D, Troester MA, Vachon CM, van Deurzen CHM, van Veen EM, Wagner P, Weinberg CR, Wendt C, Wesseling J, Winqvist R, Wolk A, Yang XR, Zheng W, Couch FJ, Simard J, Kraft P, Easton DF, Pharoah PDP, Schmidt MK, Garcia-Closas M, and Chatterjee N (2022). Common variants in breast cancer risk loci predispose to distinct tumor subtypes. Breast Cancer Res24, 2. doi:10.1186/s13058-021-01484-x.

Barnes DR, Silvestri V, Leslie G, McGuffog L, Dennis J, Yang X, Adlard J, Agnarsson BA, Ahmed M, Aittomaki K, Andrulis IL, Arason A, Arnold N, Auber B, Azzollini J, Balmana J, Barkardottir RB, Barrowdale D, Barwell J, Belotti M, Benitez J, Berthet P, Boonen SE, Borg A, Bozsik A, Brady AF, Brennan P, Brewer C, Brunet J, Bucalo A, Buys SS, Caldes T, Caligo MA, Campbell I, Cassingham H, Christensen LL, Cini G, Claes KBM, Collaborators GS, Collaborators E, Cook J, Coppa A, Cortesi L, Damante G, Darder E, Davidson R, de la Hoya M, De Leeneer K, de Putter R, Del Valle J, Diez O, Ding YC, Domchek SM, Donaldson A, Eason J, Eeles R, Engel C, Evans DG, Feliubadalo L, Fostira F, Frone M, Frost D, Gallagher D, Gehrig A, Giraud S, Glendon G, Godwin AK, Goldgar DE, Greene MH, Gregory H, Gross E, Hahnen E, Hamann U, Hansen TVO, Hanson H, Hentschel J, Horvath J, Investigators KC, Investigators H, Izatt L, Izquierdo A, James PA, Janavicius R, Jensen UB, Johannsson OT, John EM, Kramer G, Kroeldrup L, Kruse TA, Lautrup C, Lazaro C, Lesueur F, Lopez-Fernandez A, Mai PL, Manoukian S, Matrai Z, Matricardi L, Maxwell KN, Mebirouk N, Meindl A, Montagna M, Monteiro AN, Morrison PJ, Muranen TA, Murray A, Nathanson KL, Neuhausen SL, Nevanlinna H, Nguyen-Dumont T, Niederacher D, Olah E, Olopade OI, Palli D, Parsons MT, Pedersen IS, Peissel B, Perez-Segura P, Peterlongo P, Petersen AH, Pinto P, Porteous ME, Pottinger C, Pujana MA, Radice P, Ramser J, Rantala J, Robson M, Rogers MT, Ronlund K, Rump A, Sanchez de Abajo AM, Shah PD, Sharif S, Side LE, Singer CF, Stadler Z, Steele L, Stoppa-Lyonnet D, Sutter C, Tan YY, Teixeira MR, Teule A, Thull DL, Tischkowitz M, Toland AE, Tommasi S, Toss A, Trainer AH, Tripathi V, Valentini V, van Asperen CJ, Venturelli M, Viel A, Vijai J, Walker L, Wang-Gohrke S, Wappenschmidt B, Whaite A, Zanna I, Offit K, Thomassen M, Couch FJ, Schmutzler RK, Simard J, Easton DF, Chenevix-Trench G, Antoniou AC, Ottini L, Consortium of Investigators of Modifiers of B, and Brca (2022). Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores. J Natl Cancer Inst114, 109-122. doi:10.1093/jnci/djab147.

Breast Cancer Association C, Mavaddat N, Dorling L, Carvalho S, Allen J, Gonzalez-Neira A, Keeman R, Bolla MK, Dennis J, Wang Q, Ahearn TU, Andrulis IL, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Blomqvist C, Bogdanova NV, Bojesen SE, Briceno I, Bruning T, Camp NJ, Campbell A, Castelao JE, Chang-Claude J, Chanock SJ, Chenevix-Trench G, Christiansen H, Czene K, Dork T, Eriksson M, Evans DG, Fasching PA, Figueroa JD, Flyger H, Gabrielson M, Gago-Dominguez M, Geisler J, Giles GG, Guenel P, Hadjisavvas A, Hahnen E, Hall P, Hamann U, Hartikainen JM, Hartman M, Hoppe R, Howell A, Jakubowska A, Jung A, Khusnutdinova EK, Kristensen VN, Li J, Lim SH, Lindblom A, Loizidou MA, Lophatananon A, Lubinski J, Madsen MJ, Mannermaa A, Manoochehri M, Margolin S, Mavroudis D, Milne RL, Mohd Taib NA, Morra A, Muir K, Obi N, Osorio A, Park-Simon TW, Peterlongo P, Radice P, Saloustros E, Sawyer EJ, Schmutzler RK, Shah M, Sim X, Southey MC, Thorne H, Tomlinson I, Torres D, Truong T, Yip CH, Spurdle AB, Vreeswijk MPG, Dunning AM, Garcia-Closas M, Pharoah PDP, Kvist A, Muranen TA, Nevanlinna H, Teo SH, Devilee P, Schmidt MK, and Easton DF (2022). Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes. JAMA Oncol8, e216744. doi:10.1001/jamaoncol.2021.6744.

Dareng EO, Tyrer JP, Barnes DR, Jones MR, Yang X, Aben KKH, Adank MA, Agata S, Andrulis IL, Anton-Culver H, Antonenkova NN, Aravantinos G, Arun BK, Augustinsson A, Balmana J, Bandera EV, Barkardottir RB, Barrowdale D, Beckmann MW, Beeghly-Fadiel A, Benitez J, Bermisheva M, Bernardini MQ, Bjorge L, Black A, Bogdanova NV, Bonanni B, Borg A, Brenton JD, Budzilowska A, Butzow R, Buys SS, Cai H, Caligo MA, Campbell I, Cannioto R, Cassingham H, Chang-Claude J, Chanock SJ, Chen K, Chiew YE, Chung WK, Claes KBM, Colonna S, Collaborators GS, Collaborators G-HS, Collaborators E, Cook LS, Couch FJ, Daly MB, Dao F, Davies E, de la Hoya M, de Putter R, Dennis J, DePersia A, Devilee P, Diez O, Ding YC, Doherty JA, Domchek SM, Dork T, du Bois A, Durst M, Eccles DM, Eliassen HA, Engel C, Evans GD, Fasching PA, Flanagan JM, Fortner RT, Machackova E, Friedman E, Ganz PA, Garber J, Gensini F, Giles GG, Glendon G, Godwin AK, Goodman MT, Greene MH, Gronwald J, Group OS, Group A, Hahnen E, Haiman CA, Hakansson N, Hamann U, Hansen TVO, Harris HR, Hartman M, Heitz F, Hildebrandt MAT, Hogdall E, Hogdall CK, Hopper JL, Huang RY, Huff C, Hulick PJ, Huntsman DG, Imyanitov EN, Investigators KC, Investigators H, Isaacs C, Jakubowska A, James PA, Janavicius R, Jensen A, Johannsson OT, John EM, Jones ME, Kang D, Karlan BY, Karnezis A, Kelemen LE, Khusnutdinova E, Kiemeney LA, Kim BG, Kjaer SK, Komenaka I, Kupryjanczyk J, Kurian AW, Kwong A, Lambrechts D, Larson MC, Lazaro C, Le ND, Leslie G, Lester J, Lesueur F, Levine DA, Li L, Li J, Loud JT, Lu KH, Lubinski J, Mai PL, Manoukian S, Marks JR, Matsuno RK, Matsuo K, May T, McGuffog L, McLaughlin JR, McNeish IA, Mebirouk N, Menon U, Miller A, Milne RL, Minlikeeva A, Modugno F, Montagna M, Moysich KB, Munro E, Nathanson KL, Neuhausen SL, Nevanlinna H, Yie JNY, Nielsen HR, Nielsen FC, Nikitina-Zake L, Odunsi K, Offit K, Olah E, Olbrecht S, Olopade OI, Olson SH, Olsson H, Osorio A, Papi L, Park SK, Parsons MT, Pathak H, Pedersen IS, Peixoto A, Pejovic T, Perez-Segura P, Permuth JB, Peshkin B, Peterlongo P, Piskorz A, Prokofyeva D, Radice P, Rantala J, Riggan MJ, Risch HA, Rodriguez-Antona C, Ross E, Rossing MA, Runnebaum I, Sandler DP, Santamarina M, Soucy P, Schmutzler RK, Setiawan VW, Shan K, Sieh W, Simard J, Singer CF, Sokolenko AP, Song H, Southey MC, Steed H, Stoppa-Lyonnet D, Sutphen R, Swerdlow AJ, Tan YY, Teixeira MR, Teo SH, Terry KL, Terry MB, Consortium O, Consortium C, Thomassen M, Thompson PJ, Thomsen LCV, Thull DL, Tischkowitz M, Titus L, Toland AE, Torres D, Trabert B, Travis R, Tung N, Tworoger SS, Valen E, van Altena AM, van der Hout AH, Van Nieuwenhuysen E, van Rensburg EJ, Vega A, Edwards DV, Vierkant RA, Wang F, Wappenschmidt B, Webb PM, Weinberg CR, Weitzel JN, Wentzensen N, White E, Whittemore AS, Winham SJ, Wolk A, Woo YL, Wu AH, Yan L, Yannoukakos D, Zavaglia KM, Zheng W, Ziogas A, Zorn KK, Kleibl Z, Easton D, Lawrenson K, DeFazio A, Sellers TA, Ramus SJ, Pearce CL, Monteiro AN, Cunningham J, Goode EL, Schildkraut JM, Berchuck A, Chenevix-Trench G, Gayther SA, Antoniou AC, and Pharoah PDP (2022). Polygenic risk modeling for prediction of epithelial ovarian cancer risk. Eur J Hum Genet30, 349-362. doi:10.1038/s41431-021-00987-7.

Dennis J, Tyrer JP, Walker LC, Michailidou K, Dorling L, Bolla MK, Wang Q, Ahearn TU, Andrulis IL, Anton-Culver H, Antonenkova NN, Arndt V, Aronson KJ, Freeman LEB, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Bogdanova NV, Bojesen SE, Brenner H, Castelao JE, Chang-Claude J, Chenevix-Trench G, Clarke CL, Collaborators N, Collee JM, Consortium CTS, Couch FJ, Cox A, Cross SS, Czene K, Devilee P, Dork T, Dossus L, Eliassen AH, Eriksson M, Evans DG, Fasching PA, Figueroa J, Fletcher O, Flyger H, Fritschi L, Gabrielson M, Gago-Dominguez M, Garcia-Closas M, Giles GG, Gonzalez-Neira A, Guenel P, Hahnen E, Haiman CA, Hall P, Hollestelle A, Hoppe R, Hopper JL, Howell A, Investigators A, kConFab AI, Jager A, Jakubowska A, John EM, Johnson N, Jones ME, Jung A, Kaaks R, Keeman R, Khusnutdinova E, Kitahara CM, Ko YD, Kosma VM, Koutros S, Kraft P, Kristensen VN, Kubelka-Sabit K, Kurian AW, Lacey JV, Lambrechts D, Larson NL, Linet M, Ogrodniczak A, Mannermaa A, Manoukian S, Margolin S, Mavroudis D, Milne RL, Muranen TA, Murphy RA, Nevanlinna H, Olson JE, Olsson H, Park-Simon TW, Perou CM, Peterlongo P, Plaseska-Karanfilska D, Pylkas K, Rennert G, Saloustros E, Sandler DP, Sawyer EJ, Schmidt MK, Schmutzler RK, Shibli R, Smeets A, Soucy P, Southey MC, Swerdlow AJ, Tamimi RM, Taylor JA, Teras LR, Terry MB, Tomlinson I, Troester MA, Truong T, Vachon CM, Wendt C, Winqvist R, Wolk A, Yang XR, Zheng W, Ziogas A, Simard J, Dunning AM, Pharoah PDP, and Easton DF (2022). Rare germline copy number variants (CNVs) and breast cancer risk. Commun Biol5, 65. doi:10.1038/s42003-021-02990-6.

Dorling L, Carvalho S, Allen J, Parsons MT, Fortuno C, Gonzalez-Neira A, Heijl SM, Adank MA, Ahearn TU, Andrulis IL, Auvinen P, Becher H, Beckmann MW, Behrens S, Bermisheva M, Bogdanova NV, Bojesen SE, Bolla MK, Bremer M, Briceno I, Camp NJ, Campbell A, Castelao JE, Chang-Claude J, Chanock SJ, Chenevix-Trench G, Collaborators N, Collee JM, Czene K, Dennis J, Dork T, Eriksson M, Evans DG, Fasching PA, Figueroa J, Flyger H, Gabrielson M, Gago-Dominguez M, Garcia-Closas M, Giles GG, Glendon G, Guenel P, Gundert M, Hadjisavvas A, Hahnen E, Hall P, Hamann U, Harkness EF, Hartman M, Hogervorst FBL, Hollestelle A, Hoppe R, Howell A, kConFab I, Investigators S, Jakubowska A, Jung A, Khusnutdinova E, Kim SW, Ko YD, Kristensen VN, Lakeman IMM, Li J, Lindblom A, Loizidou MA, Lophatananon A, Lubinski J, Luccarini C, Madsen MJ, Mannermaa A, Manoochehri M, Margolin S, Mavroudis D, Milne RL, Mohd Taib NA, Muir K, Nevanlinna H, Newman WG, Oosterwijk JC, Park SK, Peterlongo P, Radice P, Saloustros E, Sawyer EJ, Schmutzler RK, Shah M, Sim X, Southey MC, Surowy H, Suvanto M, Tomlinson I, Torres D, Truong T, van Asperen CJ, Waltes R, Wang Q, Yang XR, Pharoah PDP, Schmidt MK, Benitez J, Vroling B, Dunning AM, Teo SH, Kvist A, de la Hoya M, Devilee P, Spurdle AB, Vreeswijk MPG, and Easton DF (2022). Breast cancer risks associated with missense variants in breast cancer susceptibility genes. Genome Med14, 51. doi:10.1186/s13073-022-01052-8.

Hakkaart C, Pearson JF, Marquart L, Dennis J, Wiggins GAR, Barnes DR, Robinson BA, Mace PD, Aittomäki K, Andrulis IL, Arun BK, Azzollini J, Balmaña J, Barkardottir RB, Belhadj S, Berger L, Blok MJ, Boonen SE, Borde J, Bradbury AR, Brunet J, Buys SS, Caligo MA, Campbell I, Chung WK, Claes KBM; GEMO Study Collaborators; EMBRACE Collaborators; Collonge-Rame MA, Cook J, Cosgrove C, Couch FJ, Daly MB, Dandiker S, Davidson R, de la Hoya M, de Putter R, Delnatte C, Dhawan M, Diez O, Ding YC, Domchek SM, Donaldson A, Eason J, Easton DF, Ehrencrona H, Engel C, Evans DG, Faust U, Feliubadaló L, Fostira F, Friedman E, Frone M, Frost D, Garber J, Gayther SA, Gehrig A, Gesta P, Godwin AK, Goldgar DE, Greene MH, Hahnen E, Hake CR, Hamann U, Hansen TVO, Hauke J, Hentschel J, Herold N, Honisch E, Hulick PJ, Imyanitov EN; SWE-BRCA Investigators; kConFab Investigators; HEBON Investigators; Isaacs C, Izatt L, Izquierdo A, Jakubowska A, James PA, Janavicius R, John EM, Joseph V, Karlan BY, Kemp Z, Kirk J, Konstantopoulou I, Koudijs M, Kwong A, Laitman Y, Lalloo F, Lasset C, Lautrup C, Lazaro C, Legrand C, Leslie G, Lesueur F, Mai PL, Manoukian S, Mari V, Martens JWM, McGuffog L, Mebirouk N, Meindl A, Miller A, Montagna M, Moserle L, Mouret-Fourme E, Musgrave H, Nambot S, Nathanson KL, Neuhausen SL, Nevanlinna H, Yie JNY, Nguyen-Dumont T, Nikitina-Zake L, Offit K, Olah E, Olopade OI, Osorio A, Ott CE, Park SK, Parsons MT, Pedersen IS, Peixoto A, Perez-Segura P, Peterlongo P, Pocza T, Radice P, Ramser J, Rantala J, Rodriguez GC, Rønlund K, Rosenberg EH, Rossing M, Schmutzler RK, Shah PD, Sharif S, Sharma P, Side LE, Simard J, Singer CF, Snape K, Steinemann D, Stoppa-Lyonnet D, Sutter C, Tan YY, Teixeira MR, Teo SH, Thomassen M, Thull DL, Tischkowitz M, Toland AE, Trainer AH, Tripathi V, Tung N, van Engelen K, van Rensburg EJ, Vega A, Viel A, Walker L, Weitzel JN, Wevers MR, Chenevix-Trench G, Spurdle AB, Antoniou AC, Walker LC. Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers. Commun Biol. 2022 Oct 6;5(1):1061. doi: 10.1038/s42003-022-03978-6. PMID: 36203093

Li S, Silvestri V, Leslie G, Rebbeck TR, Neuhausen SL, Hopper JL, Nielsen HR, Lee A, Yang X, McGuffog L, Parsons MT, Andrulis IL, Arnold N, Belotti M, Borg A, Buecher B, Buys SS, Caputo SM, Chung WK, Colas C, Colonna SV, Cook J, Daly MB, de la Hoya M, de Pauw A, Delhomelle H, Eason J, Engel C, Evans DG, Faust U, Fehm TN, Fostira F, Fountzilas G, Frone M, Garcia-Barberan V, Garre P, Gauthier-Villars M, Gehrig A, Glendon G, Goldgar DE, Golmard L, Greene MH, Hahnen E, Hamann U, Hanson H, Hassan T, Hentschel J, Horvath J, Izatt L, Janavicius R, Jiao Y, John EM, Karlan BY, Kim SW, Konstantopoulou I, Kwong A, Lauge A, Lee JW, Lesueur F, Mebirouk N, Meindl A, Mouret-Fourme E, Musgrave H, Ngeow Yuen Yie J, Niederacher D, Park SK, Pedersen IS, Ramser J, Ramus SJ, Rantala J, Rashid MU, Reichl F, Ritter J, Rump A, Santamarina M, Saule C, Schmidt G, Schmutzler RK, Senter L, Shariff S, Singer CF, Southey MC, Stoppa-Lyonnet D, Sutter C, Tan Y, Teo SH, Terry MB, Thomassen M, Tischkowitz M, Toland AE, Torres D, Vega A, Wagner SA, Wang-Gohrke S, Wappenschmidt B, Weber BHF, Yannoukakos D, Spurdle AB, Easton DF, Chenevix-Trench G, Ottini L, and Antoniou AC (2022). Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants. J Clin Oncol40, 1529-1541. doi:10.1200/JCO.21.02112.

Publications 2021

Barnes DR, Silvestri V, Leslie G, McGuffog L, Dennis J, Yang X, Adlard J, Agnarsson BA, Ahmed M, Aittomaki K, Andrulis IL, Arason A, Arnold N, Auber B, Azzollini J, Balmana J, Barkardottir RB, Barrowdale D, Barwell J, Belotti M, Benitez J, Berthet P, Boonen SE, Borg A, Bozsik A, Brady A, Brennan P, Brewer C, Brunet J, Bucalo A, Buys SS, Caldes T, Caligo MA, Campbell I, Cassingham H, Lotte Christensen L, Cini G, Claes KBM, Collaborators GS, Collaborators E, Cook J, Coppa A, Cortesi L, Damante G, Darder E, Davidson R, de la Hoya M, De Leeneer K, de Putter R, Del Valle J, Diez O, Chun Ding Y, Domchek SM, Donaldson A, Eason J, Eeles R, Engel C, Gareth Evans D, Feliubadalo L, Fostira F, Frone M, Frost D, Gallagher D, Gehrig A, Giraud S, Glendon G, Godwin AK, Goldgar DE, Greene MH, Gregory H, Gross E, Hahnen E, Hamann U, Hansen TVO, Hanson H, Hentschel J, Horvath J, Investigators KC, Investigators H, Izatt L, Izquierdo A, James PA, Janavicius R, Birk Jensen U, Johannsson OT, John EM, Kramer G, Kroeldrup L, Kruse TA, Lautrup C, Lazaro C, Lesueur F, Lopez-Fernandez A, Mai PL, Manoukian S, Matrai Z, Matricardi L, Maxwell KN, Mebirouk N, Meindl A, Montagna M, Monteiro AN, Morrison PJ, Muranen TA, Murray A, Nathanson KL, Neuhausen SL, Nevanlinna H, Nguyen-Dumont T, Niederacher D, Olah E, Olopade OI, Palli D, Parsons MT, Sokilde Pedersen I, Peissel B, Perez-Segura P, Peterlongo P, Petersen AH, Pinto P, Porteous ME, Pottinger C, Angel Pujana M, Radice P, Ramser J, Rantala J, Robson M, Rogers MT, Ronlund K, Rump A, Maria Sanchez de Abajo A, Shah PD, Sharif S, Side LE, Singer CF, Stadler Z, Steele L, Stoppa-Lyonnet D, Sutter C, Yen Tan Y, Teixeira MR, Teule A, Thull DL, Tischkowitz M, Toland AE, Tommasi S, Toss A, Trainer AH, Tripathi V, Valentini V, van Asperen CJ, Venturelli M, Viel A, Vijai J, Walker L, Wang-Gohrke S, Wappenschmidt B, Whaite A, Zanna I, Offit K, Thomassen M, Couch FJ, Schmutzler RK, Simard J, Easton DF, Chenevix-Trench G, Antoniou AC, Ottini L, Consortium of Investigators of Modifiers of B, and Brca (2021). Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores. J Natl Cancer Inst. doi:10.1093/jnci/djab147.

Baxter JS, Johnson N, Tomczyk K, Gillespie A, Maguire S, Brough R, Fachal L, Michailidou K, Bolla MK, Wang Q, Dennis J, Ahearn TU, Andrulis IL, Anton-Culver H, Antonenkova NN, Arndt V, Aronson KJ, Augustinsson A, Becher H, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Bogdanova NV, Bojesen SE, Brenner H, Brucker SY, Cai Q, Campa D, Canzian F, Castelao JE, Chan TL, Chang-Claude J, Chanock SJ, Chenevix-Trench G, Choi JY, Clarke CL, Collaborators N, Colonna S, Conroy DM, Couch FJ, Cox A, Cross SS, Czene K, Daly MB, Devilee P, Dork T, Dossus L, Dwek M, Eccles DM, Ekici AB, Eliassen AH, Engel C, Fasching PA, Figueroa J, Flyger H, Gago-Dominguez M, Gao C, Garcia-Closas M, Garcia-Saenz JA, Ghoussaini M, Giles GG, Goldberg MS, Gonzalez-Neira A, Guenel P, Gundert M, Haeberle L, Hahnen E, Haiman CA, Hall P, Hamann U, Hartman M, Hatse S, Hauke J, Hollestelle A, Hoppe R, Hopper JL, Hou MF, kConFab I, Investigators A, Ito H, Iwasaki M, Jager A, Jakubowska A, Janni W, John EM, Joseph V, Jung A, Kaaks R, Kang D, Keeman R, Khusnutdinova E, Kim SW, Kosma VM, Kraft P, Kristensen VN, Kubelka-Sabit K, Kurian AW, Kwong A, Lacey JV, Lambrechts D, Larson NL, Larsson SC, Le Marchand L, Lejbkowicz F, Li J, Long J, Lophatananon A, Lubinski J, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Matsuo K, Mavroudis D, Mayes R, Menon U, Milne RL, Mohd Taib NA, Muir K, Muranen TA, Murphy RA, Nevanlinna H, O'Brien KM, Offit K, Olson JE, Olsson H, Park SK, Park-Simon TW, Patel AV, Peterlongo P, Peto J, Plaseska-Karanfilska D, Presneau N, Pylkas K, Rack B, Rennert G, Romero A, Ruebner M, Rudiger T, Saloustros E, Sandler DP, Sawyer EJ, Schmidt MK, Schmutzler RK, Schneeweiss A, Schoemaker MJ, Shah M, Shen CY, Shu XO, Simard J, Southey MC, Stone J, Surowy H, Swerdlow AJ, Tamimi RM, Tapper WJ, Taylor JA, Teo SH, Teras LR, Terry MB, Toland AE, Tomlinson I, Truong T, Tseng CC, Untch M, Vachon CM, van den Ouweland AMW, Wang SS, Weinberg CR, Wendt C, Winham SJ, Winqvist R, Wolk A, Wu AH, Yamaji T, Zheng W, Ziogas A, Pharoah PDP, Dunning AM, Easton DF, Pettitt SJ, Lord CJ, Haider S, Orr N, and Fletcher O (2021). Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element. Am J Hum Genet108, 1190-1203. doi:10.1016/j.ajhg.2021.05.013.

Escala-Garcia M, Canisius S, Keeman R, Beesley J, Anton-Culver H, Arndt V, Augustinsson A, Becher H, Beckmann MW, Behrens S, Bermisheva M, Bojesen SE, Bolla MK, Brenner H, Canzian F, Castelao JE, Chang-Claude J, Chanock SJ, Couch FJ, Czene K, Daly MB, Dennis J, Devilee P, Dork T, Dunning AM, Easton DF, Ekici AB, Eliassen AH, Fasching PA, Flyger H, Gago-Dominguez M, Garcia-Closas M, Garcia-Saenz JA, Geisler J, Giles GG, Grip M, Gundert M, Hahnen E, Haiman CA, Hakansson N, Hall P, Hamann U, Hartikainen JM, Heemskerk-Gerritsen BAM, Hollestelle A, Hoppe R, Hopper JL, Hunter DJ, Jacot W, Jakubowska A, John EM, Jung AY, Kaaks R, Khusnutdinova E, Koppert LB, Kraft P, Kristensen VN, Kurian AW, Lambrechts D, Le Marchand L, Lindblom A, Luben RN, Lubinski J, Mannermaa A, Manoochehri M, Margolin S, Mavroudis D, Muranen TA, Nevanlinna H, Olshan AF, Olsson H, Park-Simon TW, Patel AV, Peterlongo P, Pharoah PDP, Punie K, Radice P, Rennert G, Rennert HS, Romero A, Roylance R, Rudiger T, Ruebner M, Saloustros E, Sawyer EJ, Schmutzler RK, Schoemaker MJ, Scott C, Southey MC, Surowy H, Swerdlow AJ, Tamimi RM, Teras LR, Thomas E, Tomlinson I, Troester MA, Vachon CM, Wang Q, Winqvist R, Wolk A, Ziogas A, kConFab AI, Michailidou K, Chenevix-Trench G, Bachelot T, and Schmidt MK (2021). Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis. Sci Rep11, 19787. doi:10.1038/s41598-021-99409-3.

Johnson N, Maguire S, Morra A, Kapoor PM, Tomczyk K, Jones ME, Schoemaker MJ, Gilham C, Bolla MK, Wang Q, Dennis J, Ahearn TU, Andrulis IL, Anton-Culver H, Antonenkova NN, Arndt V, Aronson KJ, Augustinsson A, Baynes C, Freeman LEB, Beckmann MW, Benitez J, Bermisheva M, Blomqvist C, Boeckx B, Bogdanova NV, Bojesen SE, Brauch H, Brenner H, Burwinkel B, Campa D, Canzian F, Castelao JE, Chanock SJ, Chenevix-Trench G, Clarke CL, Collaborators N, Conroy DM, Couch FJ, Cox A, Cross SS, Czene K, Dork T, Eliassen AH, Engel C, Evans DG, Fasching PA, Figueroa J, Floris G, Flyger H, Gago-Dominguez M, Gapstur SM, Garcia-Closas M, Gaudet MM, Giles GG, Goldberg MS, Gonzalez-Neira A, Group A, Guenel P, Hahnen E, Haiman CA, Hakansson N, Hall P, Hamann U, Harrington PA, Hart SN, Hooning MJ, Hopper JL, Howell A, Hunter DJ, Investigators A, kConFab I, Jager A, Jakubowska A, John EM, Kaaks R, Keeman R, Khusnutdinova E, Kitahara CM, Kosma VM, Koutros S, Kraft P, Kristensen VN, Kurian AW, Lambrechts D, Le Marchand L, Linet M, Lubinski J, Mannermaa A, Manoukian S, Margolin S, Martens JWM, Mavroudis D, Mayes R, Meindl A, Milne RL, Neuhausen SL, Nevanlinna H, Newman WG, Nielsen SF, Nordestgaard BG, Obi N, Olshan AF, Olson JE, Olsson H, Orban E, Park-Simon TW, Peterlongo P, Plaseska-Karanfilska D, Pylkas K, Rennert G, Rennert HS, Ruddy KJ, Saloustros E, Sandler DP, Sawyer EJ, Schmutzler RK, Scott C, Shu XO, Simard J, Smichkoska S, Sohn C, Southey MC, Spinelli JJ, Stone J, Tamimi RM, Taylor JA, Tollenaar R, Tomlinson I, Troester MA, Truong T, Vachon CM, van Veen EM, Wang SS, Weinberg CR, Wendt C, Wildiers H, Winqvist R, Wolk A, Zheng W, Ziogas A, Dunning AM, Pharoah PDP, Easton DF, Howie AF, Peto J, Dos-Santos-Silva I, Swerdlow AJ, Chang-Claude J, Schmidt MK, Orr N, and Fletcher O (2021). CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers. Br J Cancer124, 842-854. doi:10.1038/s41416-020-01185-w.

Lakeman IMM, van den Broek AJ, Vos JAM, Barnes DR, Adlard J, Andrulis IL, Arason A, Arnold N, Arun BK, Balmana J, Barrowdale D, Benitez J, Borg A, Caldes T, Caligo MA, Chung WK, Claes KBM, Collaborators GS, Collaborators E, Collee JM, Couch FJ, Daly MB, Dennis J, Dhawan M, Domchek SM, Eeles R, Engel C, Evans DG, Feliubadalo L, Foretova L, Friedman E, Frost D, Ganz PA, Garber J, Gayther SA, Gerdes AM, Godwin AK, Goldgar DE, Hahnen E, Hake CR, Hamann U, Hogervorst FBL, Hooning MJ, Hopper JL, Hulick PJ, Imyanitov EN, Investigators O, Investigators H, KconFab I, Isaacs C, Izatt L, Jakubowska A, James PA, Janavicius R, Jensen UB, Jiao Y, John EM, Joseph V, Karlan BY, Kets CM, Konstantopoulou I, Kwong A, Legrand C, Leslie G, Lesueur F, Loud JT, Lubinski J, Manoukian S, McGuffog L, Miller A, Gomes DM, Montagna M, Mouret-Fourme E, Nathanson KL, Neuhausen SL, Nevanlinna H, Yie JNY, Olah E, Olopade OI, Park SK, Parsons MT, Peterlongo P, Piedmonte M, Radice P, Rantala J, Rennert G, Risch HA, Schmutzler RK, Sharma P, Simard J, Singer CF, Stadler Z, Stoppa-Lyonnet D, Sutter C, Tan YY, Teixeira MR, Teo SH, Teule A, Thomassen M, Thull DL, Tischkowitz M, Toland AE, Tung N, van Rensburg EJ, Vega A, Wappenschmidt B, Devilee P, van Asperen CJ, Bernstein JL, Offit K, Easton DF, Rookus MA, Chenevix-Trench G, Antoniou AC, Robson M, and Schmidt MK (2021). The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant. Genet Med23, 1726-1737. doi:10.1038/s41436-021-01198-7.

Li N, Zethoven M, McInerny S, Devereux L, Huang YK, Thio N, Cheasley D, Gutierrez-Enriquez S, Moles-Fernandez A, Diez O, Nguyen-Dumont T, Southey MC, Hopper JL, Simard J, Dumont M, Soucy P, Meindl A, Schmutzler R, Schmidt MK, Adank MA, Andrulis IL, Hahnen E, Engel C, Lesueur F, Girard E, Neuhausen SL, Ziv E, Allen J, Easton DF, Scott RJ, Gorringe KL, James PA, and Campbell IG (2021). Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition: an international multi-center study of 47,180 subjects. NPJ Breast Cancer7, 52. doi:10.1038/s41523-021-00255-3.

Morra A, Escala-Garcia M, Beesley J, Keeman R, Canisius S, Ahearn TU, Andrulis IL, Anton-Culver H, Arndt V, Auer PL, Augustinsson A, Beane Freeman LE, Becher H, Beckmann MW, Behrens S, Bojesen SE, Bolla MK, Brenner H, Bruning T, Buys SS, Caan B, Campa D, Canzian F, Castelao JE, Chang-Claude J, Chanock SJ, Cheng TD, Clarke CL, Collaborators N, Colonna SV, Couch FJ, Cox A, Cross SS, Czene K, Daly MB, Dennis J, Dork T, Dossus L, Dunning AM, Dwek M, Eccles DM, Ekici AB, Eliassen AH, Eriksson M, Evans DG, Fasching PA, Flyger H, Fritschi L, Gago-Dominguez M, Garcia-Saenz JA, Giles GG, Grip M, Guenel P, Gundert M, Hahnen E, Haiman CA, Hakansson N, Hall P, Hamann U, Hart SN, Hartikainen JM, Hartmann A, He W, Hooning MJ, Hoppe R, Hopper JL, Howell A, Hunter DJ, Investigators A, kConFab I, Jager A, Jakubowska A, Janni W, John EM, Jung AY, Kaaks R, Keupers M, Kitahara CM, Koutros S, Kraft P, Kristensen VN, Kurian AW, Lacey JV, Lambrechts D, Le Marchand L, Lindblom A, Linet M, Luben RN, Lubinski J, Lush M, Mannermaa A, Manoochehri M, Margolin S, Martens JWM, Martinez ME, Mavroudis D, Michailidou K, Milne RL, Mulligan AM, Muranen TA, Nevanlinna H, Newman WG, Nielsen SF, Nordestgaard BG, Olshan AF, Olsson H, Orr N, Park-Simon TW, Patel AV, Peissel B, Peterlongo P, Plaseska-Karanfilska D, Prajzendanc K, Prentice R, Presneau N, Rack B, Rennert G, Rennert HS, Rhenius V, Romero A, Roylance R, Ruebner M, Saloustros E, Sawyer EJ, Schmutzler RK, Schneeweiss A, Scott C, Shah M, Smichkoska S, Southey MC, Stone J, Surowy H, Swerdlow AJ, Tamimi RM, Tapper WJ, Teras LR, Terry MB, Tollenaar R, Tomlinson I, Troester MA, Truong T, Vachon CM, Wang Q, Hurson AN, Winqvist R, Wolk A, Ziogas A, Brauch H, Garcia-Closas M, Pharoah PDP, Easton DF, Chenevix-Trench G, and Schmidt MK (2021). Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment. Breast Cancer Res23, 86. doi:10.1186/s13058-021-01450-7.

Park HA, Neumeyer S, Michailidou K, Bolla MK, Wang Q, Dennis J, Ahearn TU, Andrulis IL, Anton-Culver H, Antonenkova NN, Arndt V, Aronson KJ, Augustinsson A, Baten A, Beane Freeman LE, Becher H, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Bogdanova NV, Bojesen SE, Brauch H, Brenner H, Brucker SY, Burwinkel B, Campa D, Canzian F, Castelao JE, Chanock SJ, Chenevix-Trench G, Clarke CL, Collaborators N, Conroy DM, Couch FJ, Cox A, Cross SS, Czene K, Daly MB, Devilee P, Dork T, Dos-Santos-Silva I, Dwek M, Eccles DM, Eliassen AH, Engel C, Eriksson M, Evans DG, Fasching PA, Flyger H, Fritschi L, Garcia-Closas M, Garcia-Saenz JA, Gaudet MM, Giles GG, Glendon G, Goldberg MS, Goldgar DE, Gonzalez-Neira A, Grip M, Guenel P, Hahnen E, Haiman CA, Hakansson N, Hall P, Hamann U, Han S, Harkness EF, Hart SN, He W, Heemskerk-Gerritsen BAM, Hopper JL, Hunter DJ, Investigators A, kConFab I, Jager A, Jakubowska A, John EM, Jung A, Kaaks R, Kapoor PM, Keeman R, Khusnutdinova E, Kitahara CM, Koppert LB, Koutros S, Kristensen VN, Kurian AW, Lacey J, Lambrechts D, Le Marchand L, Lo WY, Lubinski J, Mannermaa A, Manoochehri M, Margolin S, Martinez ME, Mavroudis D, Meindl A, Menon U, Milne RL, Muranen TA, Nevanlinna H, Newman WG, Nordestgaard BG, Offit K, Olshan AF, Olsson H, Park-Simon TW, Peterlongo P, Peto J, Plaseska-Karanfilska D, Presneau N, Radice P, Rennert G, Rennert HS, Romero A, Saloustros E, Sawyer EJ, Schmidt MK, Schmutzler RK, Schoemaker MJ, Schwentner L, Scott C, Shah M, Shu XO, Simard J, Smeets A, Southey MC, Spinelli JJ, Stevens V, Swerdlow AJ, Tamimi RM, Tapper WJ, Taylor JA, Terry MB, Tomlinson I, Troester MA, Truong T, Vachon CM, van Veen EM, Vijai J, Wang S, Wendt C, Winqvist R, Wolk A, Ziogas A, Dunning AM, Pharoah PDP, Easton DF, Zheng W, Kraft P, and Chang-Claude J (2021). Mendelian randomisation study of smoking exposure in relation to breast cancer risk. Br J Cancer125, 1135-1145. doi:10.1038/s41416-021-01432-8.

Tischkowitz M, Balmana J, Foulkes WD, James P, Ngeow J, Schmutzler R, Voian N, Wick MJ, Stewart DR, Pal T, Practice AP, and Guidelines C (2021). Management of individuals with germline variants in PALB2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med23, 1416-1423. doi:10.1038/s41436-021-01151-8.

Publications 2020

Barnes DR, Rookus MA, McGuffog L, Leslie G, Mooij TM, Dennis J, Mavaddat N, Adlard J, Ahmed M, Aittomaki K, Andrieu N, Andrulis IL, Arnold N, Arun BK, Azzollini J, Balmana J, Barkardottir RB, Barrowdale D, Benitez J, Berthet P, Bialkowska K, Blanco AM, Blok MJ, Bonanni B, Boonen SE, Borg A, Bozsik A, Bradbury AR, Brennan P, Brewer C, Brunet J, Buys SS, Caldes T, Caligo MA, Campbell I, Christensen LL, Chung WK, Claes KBM, Colas C, Collaborators GS, Collaborators E, Collonge-Rame MA, Cook J, Daly MB, Davidson R, de la Hoya M, de Putter R, Delnatte C, Devilee P, Diez O, Ding YC, Domchek SM, Dorfling CM, Dumont M, Eeles R, Ejlertsen B, Engel C, Evans DG, Faivre L, Foretova L, Fostira F, Friedlander M, Friedman E, Frost D, Ganz PA, Garber J, Gehrig A, Gerdes AM, Gesta P, Giraud S, Glendon G, Godwin AK, Goldgar DE, Gonzalez-Neira A, Greene MH, Gschwantler-Kaulich D, Hahnen E, Hamann U, Hanson H, Hentschel J, Hogervorst FBL, Hooning MJ, Horvath J, Hu C, Hulick PJ, Imyanitov EN, kConFab I, Investigators H, Investigators G, Isaacs C, Izatt L, Izquierdo A, Jakubowska A, James PA, Janavicius R, John EM, Joseph V, Karlan BY, Kast K, Koudijs M, Kruse TA, Kwong A, Laitman Y, Lasset C, Lazaro C, Lester J, Lesueur F, Liljegren A, Loud JT, Lubinski J, Mai PL, Manoukian S, Mari V, Mebirouk N, Meijers-Heijboer HEJ, Meindl A, Mensenkamp AR, Miller A, Montagna M, Mouret-Fourme E, Mukherjee S, Mulligan AM, Nathanson KL, Neuhausen SL, Nevanlinna H, Niederacher D, Nielsen FC, Nikitina-Zake L, Nogues C, Olah E, Olopade OI, Ong KR, O'Shaughnessy-Kirwan A, Osorio A, Ott CE, Papi L, Park SK, Parsons MT, Pedersen IS, Peissel B, Peixoto A, Peterlongo P, Pfeiler G, Phillips KA, Prajzendanc K, Pujana MA, Radice P, Ramser J, Ramus SJ, Rantala J, Rennert G, Risch HA, Robson M, Ronlund K, Salani R, Schuster H, Senter L, Shah PD, Sharma P, Side LE, Singer CF, Slavin TP, Soucy P, Southey MC, Spurdle AB, Steinemann D, Steinsnyder Z, Stoppa-Lyonnet D, Sutter C, Tan YY, Teixeira MR, Teo SH, Thull DL, Tischkowitz M, Tognazzo S, Toland AE, Trainer AH, Tung N, van Engelen K, van Rensburg EJ, Vega A, Vierstraete J, Wagner G, Walker L, Wang-Gohrke S, Wappenschmidt B, Weitzel JN, Yadav S, Yang X, Yannoukakos D, Zimbalatti D, Offit K, Thomassen M, Couch FJ, Schmutzler RK, Simard J, Easton DF, Chenevix-Trench G, Antoniou AC, Consortium of Investigators of Modifiers of B, and Brca (2020). Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants. Genet Med 22, 1653-66.

Escala-Garcia M, Abraham J, Andrulis IL, Anton-Culver H, Arndt V, Ashworth A, Auer PL, Auvinen P, Beckmann MW, Beesley J, Behrens S, Benitez J, Bermisheva M, Blomqvist C, Blot W, Bogdanova NV, Bojesen SE, Bolla MK, Borresen-Dale AL, Brauch H, Brenner H, Brucker SY, Burwinkel B, Caldas C, Canzian F, Chang-Claude J, Chanock SJ, Chin SF, Clarke CL, Couch FJ, Cox A, Cross SS, Czene K, Daly MB, Dennis J, Devilee P, Dunn JA, Dunning AM, Dwek M, Earl HM, Eccles DM, Eliassen AH, Ellberg C, Evans DG, Fasching PA, Figueroa J, Flyger H, Gago-Dominguez M, Gapstur SM, Garcia-Closas M, Garcia-Saenz JA, Gaudet MM, George A, Giles GG, Goldgar DE, Gonzalez-Neira A, Grip M, Guenel P, Guo Q, Haiman CA, Hakansson N, Hamann U, Harrington PA, Hiller L, Hooning MJ, Hopper JL, Howell A, Huang CS, Huang G, Hunter DJ, Jakubowska A, John EM, Kaaks R, Kapoor PM, Keeman R, Kitahara CM, Koppert LB, Kraft P, Kristensen VN, Lambrechts D, Le Marchand L, Lejbkowicz F, Lindblom A, Lubinski J, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martinez ME, Maurer T, Mavroudis D, Meindl A, Milne RL, Mulligan AM, Neuhausen SL, Nevanlinna H, Newman WG, Olshan AF, Olson JE, Olsson H, Orr N, Peterlongo P, Petridis C, Prentice RL, Presneau N, Punie K, Ramachandran D, Rennert G, Romero A, Sachchithananthan M, Saloustros E, Sawyer EJ, Schmutzler RK, Schwentner L, Scott C, Simard J, Sohn C, Southey MC, Swerdlow AJ, Tamimi RM, Tapper WJ, Teixeira MR, Terry MB, Thorne H, Tollenaar R, Tomlinson I, Troester MA, Truong T, Turnbull C, Vachon CM, van der Kolk LE, Wang Q, Winqvist R, Wolk A, Yang XR, Ziogas A, Pharoah PDP, Hall P, Wessels LFA, Chenevix-Trench G, Bader GD, Dork T, Easton DF, Canisius S, and Schmidt MK (2020). A network analysis to identify mediators of germline-driven differences in breast cancer prognosis. Nat Commun 11, 312.

Feng H, Gusev A, Pasaniuc B, Wu L, Long J, Abu-Full Z, Aittomaki K, Andrulis IL, Anton-Culver H, Antoniou AC, Arason A, Arndt V, Aronson KJ, Arun BK, Asseryanis E, Auer PL, Azzollini J, Balmana J, Barkardottir RB, Barnes DR, Barrowdale D, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Bialkowska K, Blanco A, Blomqvist C, Boeckx B, Bogdanova NV, Bojesen SE, Bolla MK, Bonanni B, Borg A, Brauch H, Brenner H, Briceno I, Broeks A, Bruning T, Burwinkel B, Cai Q, Caldes T, Caligo MA, Campbell I, Canisius S, Campa D, Carter BD, Carter J, Castelao JE, Chang-Claude J, Chanock SJ, Christiansen H, Chung WK, Claes KBM, Clarke CL, Collaborators GS, Collaborators E, Collaborators G-Hs, Couch FJ, Cox A, Cross SS, Cybulski C, Czene K, Daly MB, de la Hoya M, De Leeneer K, Dennis J, Devilee P, Diez O, Domchek SM, Dork T, Dos-Santos-Silva I, Dunning AM, Dwek M, Eccles DM, Ejlertsen B, Ellberg C, Engel C, Eriksson M, Fasching PA, Fletcher O, Flyger H, Fostira F, Friedman E, Fritschi L, Frost D, Gabrielson M, Ganz PA, Gapstur SM, Garber J, Garcia-Closas M, Garcia-Saenz JA, Gaudet MM, Giles GG, Glendon G, Godwin AK, Goldberg MS, Goldgar DE, Gonzalez-Neira A, Greene MH, Gronwald J, Guenel P, Haiman CA, Hall P, Hamann U, Hake C, He W, Heyworth J, Hogervorst FBL, Hollestelle A, Hooning MJ, Hoover RN, Hopper JL, Huang G, Hulick PJ, Humphreys K, Imyanitov EN, Investigators A, Investigators H, Investigators B, Investigators O, Isaacs C, Jakimovska M, Jakubowska A, James P, Janavicius R, Jankowitz RC, John EM, Johnson N, Joseph V, Jung A, Karlan BY, Khusnutdinova E, Kiiski JI, Konstantopoulou I, Kristensen VN, Laitman Y, Lambrechts D, Lazaro C, Leroux D, Leslie G, Lester J, Lesueur F, Lindor N, Lindstrom S, Lo WY, Loud JT, Lubinski J, Makalic E, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martens JWM, Martinez ME, Matricardi L, Maurer T, Mavroudis D, McGuffog L, Meindl A, Menon U, Michailidou K, Kapoor PM, Miller A, Montagna M, Moreno F, Moserle L, Mulligan AM, Muranen TA, Nathanson KL, Neuhausen SL, Nevanlinna H, Nevelsteen I, Nielsen FC, Nikitina-Zake L, Offit K, Olah E, Olopade OI, Olsson H, Osorio A, Papp J, Park-Simon TW, Parsons MT, Pedersen IS, Peixoto A, Peterlongo P, Peto J, Pharoah PDP, Phillips KA, Plaseska-Karanfilska D, Poppe B, Pradhan N, Prajzendanc K, Presneau N, Punie K, Pylkas K, Radice P, Rantala J, Rashid MU, Rennert G, Risch HA, Robson M, Romero A, Saloustros E, Sandler DP, Santos C, Sawyer EJ, Schmidt MK, Schmidt DF, Schmutzler RK, Schoemaker MJ, Scott RJ, Sharma P, Shu XO, Simard J, Singer CF, Skytte AB, Soucy P, Southey MC, Spinelli JJ, Spurdle AB, Stone J, Swerdlow AJ, Tapper WJ, Taylor JA, Teixeira MR, Terry MB, Teule A, Thomassen M, Thone K, Thull DL, Tischkowitz M, Toland AE, Tollenaar R, Torres D, Truong T, Tung N, Vachon CM, van Asperen CJ, van den Ouweland AMW, van Rensburg EJ, Vega A, Viel A, Vieiro-Balo P, Wang Q, Wappenschmidt B, Weinberg CR, Weitzel JN, Wendt C, Winqvist R, Yang XR, Yannoukakos D, Ziogas A, Milne RL, Easton DF, Chenevix-Trench G, Zheng W, Kraft P, and Jiang X (2020). Transcriptome-wide association study of breast cancer risk by estrogen-receptor status. Genet Epidemiol 44, 442-68.

Hauke J, Harter P, Ernst C, Burges A, Schmidt S, Reuss A, Borde J, De Gregorio N, Dietrich D, El-Balat A, Kayali M, Gevensleben H, Hilpert F, Altmuller J, Heimbach A, Meier W, Schoemig-Markiefka B, Thiele H, Kimmig R, Nurnberg P, Kast K, Richters L, Sehouli J, Schmutzler RK, and Hahnen E (2020). Sensitivity and specificity of loss of heterozygosity analysis for the classification of rare germline variants in BRCA1/2: results of the observational AGO-TR1 study (NCT02222883). Journal of medical genetics 10.1136/jmedgenet-2020-107353.

Kramer I, Hooning MJ, Mavaddat N, Hauptmann M, Keeman R, Steyerberg EW, Giardiello D, Antoniou AC, Pharoah PDP, Canisius S, Abu-Ful Z, Andrulis IL, Anton-Culver H, Aronson KJ, Augustinsson A, Becher H, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Bogdanova NV, Bojesen SE, Bolla MK, Bonanni B, Brauch H, Bremer M, Brucker SY, Burwinkel B, Castelao JE, Chan TL, Chang-Claude J, Chanock SJ, Chenevix-Trench G, Choi JY, Clarke CL, Collaborators N, Collee JM, Couch FJ, Cox A, Cross SS, Czene K, Daly MB, Devilee P, Dork T, Dos-Santos-Silva I, Dunning AM, Dwek M, Eccles DM, Evans DG, Fasching PA, Flyger H, Gago-Dominguez M, Garcia-Closas M, Garcia-Saenz JA, Giles GG, Goldgar DE, Gonzalez-Neira A, Haiman CA, Hakansson N, Hamann U, Hartman M, Heemskerk-Gerritsen BAM, Hollestelle A, Hopper JL, Hou MF, Howell A, Investigators A, kConFab I, Ito H, Jakimovska M, Jakubowska A, Janni W, John EM, Jung A, Kang D, Kets CM, Khusnutdinova E, Ko YD, Kristensen VN, Kurian AW, Kwong A, Lambrechts D, Le Marchand L, Li J, Lindblom A, Lubinski J, Mannermaa A, Manoochehri M, Margolin S, Matsuo K, Mavroudis D, Meindl A, Milne RL, Mulligan AM, Muranen TA, Neuhausen SL, Nevanlinna H, Newman WG, Olshan AF, Olson JE, Olsson H, Park-Simon TW, Peto J, Petridis C, Plaseska-Karanfilska D, Presneau N, Pylkas K, Radice P, Rennert G, Romero A, Roylance R, Saloustros E, Sawyer EJ, Schmutzler RK, Schwentner L, Scott C, See MH, Shah M, Shen CY, Shu XO, Siesling S, Slager S, Sohn C, Southey MC, Spinelli JJ, Stone J, Tapper WJ, Tengstrom M, Teo SH, Terry MB, Tollenaar R, Tomlinson I, Troester MA, Vachon CM, van Ongeval C, van Veen EM, Winqvist R, Wolk A, Zheng W, Ziogas A, Easton DF, Hall P, and Schmidt MK (2020). Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk. Am J Hum Genet 107, 837-48.

Li H, Terry MB, Antoniou AC, Phillips KA, Kast K, Mooij TM, Engel C, Nogues C, Stoppa-Lyonnet D, Lasset C, Berthet P, Mari V, Caron O, study G, Barrowdale D, Frost D, Brewer C, Evans DG, Izatt L, Side L, Walker L, Tischkowitz M, Rogers MT, Porteous ME, Snape K, study E, Meijers-Heijboer HEJ, Gille JJP, Blok MJ, Hoogerbrugge N, Investigators H, Daly MB, Andrulis IL, Buys SS, John EM, McLachlan SA, Friedlander M, kConFab I, Tan YY, Osorio A, Caldes T, Jakubowska A, Simard J, Singer CF, Olah E, Navratilova M, Foretova L, Gerdes AM, Roos-Blom MJ, Arver B, Olsson H, Schmutzler RK, Hopper JL, Milne RL, Easton DF, Van Leeuwen FE, Rookus MA, Andrieu N, and Goldgar DE (2020). Alcohol Consumption, Cigarette Smoking, and Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Results from The BRCA1 and BRCA2 Cohort Consortium. Cancer Epidemiol Biomarkers Prev 29, 368-78.

Liu J, Prager-van der Smissen WJC, Collee JM, Bolla MK, Wang Q, Michailidou K, Dennis J, Ahearn TU, Aittomaki K, Ambrosone CB, Andrulis IL, Anton-Culver H, Antonenkova NN, Arndt V, Arnold N, Aronson KJ, Augustinsson A, Auvinen P, Becher H, Beckmann MW, Behrens S, Bermisheva M, Bernstein L, Bogdanova NV, Bogdanova-Markov N, Bojesen SE, Brauch H, Brenner H, Briceno I, Brucker SY, Bruning T, Burwinkel B, Cai Q, Cai H, Campa D, Canzian F, Castelao JE, Chang-Claude J, Chanock SJ, Choi JY, Christiaens M, Clarke CL, Collaborators N, Couch FJ, Czene K, Daly MB, Devilee P, Dos-Santos-Silva I, Dwek M, Eccles DM, Eliassen AH, Fasching PA, Figueroa J, Flyger H, Fritschi L, Gago-Dominguez M, Gapstur SM, Garcia-Closas M, Garcia-Saenz JA, Gaudet MM, Giles GG, Goldberg MS, Goldgar DE, Guenel P, Haiman CA, Hakansson N, Hall P, Harrington PA, Hart SN, Hartman M, Hillemanns P, Hopper JL, Hou MF, Hunter DJ, Huo D, Investigators A, Ito H, Iwasaki M, Jakimovska M, Jakubowska A, John EM, Kaaks R, Kang D, Keeman R, Khusnutdinova E, Kim SW, Kraft P, Kristensen VN, Kurian AW, Le Marchand L, Li J, Lindblom A, Lophatananon A, Luben RN, Lubinski J, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Mariapun S, Matsuo K, Maurer T, Mavroudis D, Meindl A, Menon U, Milne RL, Muir K, Mulligan AM, Neuhausen SL, Nevanlinna H, Offit K, Olopade OI, Olson JE, Olsson H, Orr N, Park SK, Peterlongo P, Peto J, Plaseska-Karanfilska D, Presneau N, Rack B, Rau-Murthy R, Rennert G, Rennert HS, Rhenius V, Romero A, Ruebner M, Saloustros E, Schmutzler RK, Schneeweiss A, Scott C, Shah M, Shen CY, Shu XO, Simard J, Sohn C, Southey MC, Spinelli JJ, Tamimi RM, Tapper WJ, Teo SH, Terry MB, Torres D, Truong T, Untch M, Vachon CM, van Asperen CJ, Wolk A, Yamaji T, Zheng W, Ziogas A, Ziv E, Torres-Mejia G, Dork T, Swerdlow AJ, Hamann U, Schmidt MK, Dunning AM, Pharoah PDP, Easton DF, Hooning MJ, Martens JWM, and Hollestelle A (2020). Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk. Sci Rep 10, 9688.

Mavaddat N, Antoniou AC, Mooij TM, Hooning MJ, Heemskerk-Gerritsen BA, Genepso, Nogues C, Gauthier-Villars M, Caron O, Gesta P, Pujol P, Lortholary A, Embrace, Barrowdale D, Frost D, Evans DG, Izatt L, Adlard J, Eeles R, Brewer C, Tischkowitz M, Henderson A, Cook J, Eccles D, Hebon, van Engelen K, Mourits MJE, Ausems M, Koppert LB, Hopper JL, John EM, Chung WK, Andrulis IL, Daly MB, Buys SS, kConFab I, Benitez J, Caldes T, Jakubowska A, Simard J, Singer CF, Tan Y, Olah E, Navratilova M, Foretova L, Gerdes AM, Roos-Blom MJ, Van Leeuwen FE, Arver B, Olsson H, Schmutzler RK, Engel C, Kast K, Phillips KA, Terry MB, Milne RL, Goldgar DE, Rookus MA, Andrieu N, Easton DF, Ibccs, kConFab, and Bcfr (2020a). Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers. Breast Cancer Res 22, 8.

Muranen TA, Khan S, Fagerholm R, Aittomaki K, Cunningham JM, Dennis J, Leslie G, McGuffog L, Parsons MT, Simard J, Slager S, Soucy P, Easton DF, Tischkowitz M, Spurdle AB, kConFab I, Schmutzler RK, Wappenschmidt B, Hahnen E, Hooning MJ, Investigators H, Singer CF, Wagner G, Thomassen M, Pedersen IS, Domchek SM, Nathanson KL, Lazaro C, Rossing CM, Andrulis IL, Teixeira MR, James P, Garber J, Weitzel JN, Investigators S-B, Jakubowska A, Yannoukakos D, John EM, Southey MC, Schmidt MK, Antoniou AC, Chenevix-Trench G, Blomqvist C, and Nevanlinna H (2020). Association of germline variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer. NPJ breast cancer 6, 44.

Patel VL, Busch EL, Friebel TM, Cronin A, Leslie G, McGuffog L, Adlard J, Agata S, Agnarsson BA, Ahmed M, Aittomaki K, Alducci E, Andrulis IL, Arason A, Arnold N, Artioli G, Arver B, Auber B, Azzollini J, Balmana J, Barkardottir RB, Barnes DR, Barroso A, Barrowdale D, Belotti M, Benitez J, Bertelsen B, Blok MJ, Bodrogi I, Bonadona V, Bonanni B, Bondavalli D, Boonen SE, Borde J, Borg A, Bradbury AR, Brady A, Brewer C, Brunet J, Buecher B, Buys SS, Cabezas-Camarero S, Caldes T, Caliebe A, Caligo MA, Calvello M, Campbell IG, Carnevali I, Carrasco E, Chan TL, Chu ATW, Chung WK, Claes KBM, Collaborators GS, Collaborators E, Cook J, Cortesi L, Couch FJ, Daly MB, Damante G, Darder E, Davidson R, de la Hoya M, Puppa LD, Dennis J, Diez O, Ding YC, Ditsch N, Domchek SM, Donaldson A, Dworniczak B, Easton DF, Eccles DM, Eeles RA, Ehrencrona H, Ejlertsen B, Engel C, Evans DG, Faivre L, Faust U, Feliubadalo L, Foretova L, Fostira F, Fountzilas G, Frost D, Garcia-Barberan V, Garre P, Gauthier-Villars M, Geczi L, Gehrig A, Gerdes AM, Gesta P, Giannini G, Glendon G, Godwin AK, Goldgar DE, Greene MH, Gutierrez-Barrera AM, Hahnen E, Hamann U, Hauke J, Herold N, Hogervorst FBL, Honisch E, Hopper JL, Hulick PJ, Investigators K, Investigators H, Izatt L, Jager A, James P, Janavicius R, Jensen UB, Jensen TD, Johannsson OT, John EM, Joseph V, Kang E, Kast K, Kiiski JI, Kim SW, Kim Z, Ko KP, Konstantopoulou I, Kramer G, Krogh L, Kruse TA, Kwong A, Larsen M, Lasset C, Lautrup C, Lazaro C, Lee J, Lee JW, Lee MH, Lemke J, Lesueur F, Liljegren A, Lindblom A, Llovet P, Lopez-Fernandez A, Lopez-Perolio I, Lorca V, Loud JT, Ma ESK, Mai PL, Manoukian S, Mari V, Martin L, Matricardi L, Mebirouk N, Medici V, Meijers-Heijboer HEJ, Meindl A, Mensenkamp AR, Miller C, Gomes DM, Montagna M, Mooij TM, Moserle L, Mouret-Fourme E, Mulligan AM, Nathanson KL, Navratilova M, Nevanlinna H, Niederacher D, Nielsen FCC, Nikitina-Zake L, Offit K, Olah E, Olopade OI, Ong KR, Osorio A, Ott CE, Palli D, Park SK, Parsons MT, Pedersen IS, Peissel B, Peixoto A, Perez-Segura P, Peterlongo P, Petersen AH, Porteous ME, Pujana MA, Radice P, Ramser J, Rantala J, Rashid MU, Rhiem K, Rizzolo P, Robson ME, Rookus MA, Rossing CM, Ruddy KJ, Santos C, Saule C, Scarpitta R, Schmutzler RK, Schuster H, Senter L, Seynaeve CM, Shah PD, Sharma P, Shin VY, Silvestri V, Simard J, Singer CF, Skytte AB, Snape K, Solano AR, Soucy P, Southey MC, Spurdle AB, Steele L, Steinemann D, Stoppa-Lyonnet D, Stradella A, Sunde L, Sutter C, Tan YY, Teixeira MR, Teo SH, Thomassen M, Tibiletti MG, Tischkowitz M, Tognazzo S, Toland AE, Tommasi S, Torres D, Toss A, Trainer AH, Tung N, van Asperen CJ, van der Baan FH, van der Kolk LE, van der Luijt RB, van Hest LP, Varesco L, Varon-Mateeva R, Viel A, Vierstraete J, Villa R, von Wachenfeldt A, Wagner P, Wang-Gohrke S, Wappenschmidt B, Weitzel JN, Wieme G, Yadav S, Yannoukakos D, Yoon SY, Zanzottera C, Zorn KK, D'Amico AV, Freedman ML, Pomerantz MM, Chenevix-Trench G, Antoniou AC, Neuhausen SL, Ottini L, Nielsen HR, and Rebbeck TR (2020). Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness. Cancer Res 80, 624-38.

Pohl-Rescigno E, Hauke J, Loibl S, Mobus V, Denkert C, Fasching PA, Kayali M, Ernst C, Weber-Lassalle N, Hanusch C, Tesch H, Muller V, Altmuller J, Thiele H, Untch M, Lubbe K, Nurnberg P, Rhiem K, Furlanetto J, Lederer B, Jackisch C, Nekljudova V, Schmutzler RK, Schneeweiss A, and Hahnen E (2020). Association of Germline Variant Status With Therapy Response in High-risk Early-Stage Breast Cancer: A Secondary Analysis of the GeparOcto Randomized Clinical Trial. JAMA Oncol 10.1001/jamaoncol.2020.0007.

Silvestri V, Leslie G, Barnes DR, Group C, Agnarsson BA, Aittomaki K, Alducci E, Andrulis IL, Barkardottir RB, Barroso A, Barrowdale D, Benitez J, Bonanni B, Borg A, Buys SS, Caldes T, Caligo MA, Capalbo C, Campbell I, Chung WK, Claes KBM, Colonna SV, Cortesi L, Couch FJ, de la Hoya M, Diez O, Ding YC, Domchek S, Easton DF, Ejlertsen B, Engel C, Evans DG, Feliubadalo L, Foretova L, Fostira F, Geczi L, Gerdes AM, Glendon G, Godwin AK, Goldgar DE, Hahnen E, Hogervorst FBL, Hopper JL, Hulick PJ, Isaacs C, Izquierdo A, James PA, Janavicius R, Jensen UB, John EM, Joseph V, Konstantopoulou I, Kurian AW, Kwong A, Landucci E, Lesueur F, Loud JT, Machackova E, Mai PL, Majidzadeh AK, Manoukian S, Montagna M, Moserle L, Mulligan AM, Nathanson KL, Nevanlinna H, Ngeow J, Nikitina-Zake L, Offit K, Olah E, Olopade OI, Osorio A, Papi L, Park SK, Pedersen IS, Perez-Segura P, Petersen AH, Pinto P, Porfirio B, Pujana MA, Radice P, Rantala J, Rashid MU, Rosenzweig B, Rossing M, Santamarina M, Schmutzler RK, Senter L, Simard J, Singer CF, Solano AR, Southey MC, Steele L, Steinsnyder Z, Stoppa-Lyonnet D, Tan YY, Teixeira MR, Teo SH, Terry MB, Thomassen M, Toland AE, Torres-Esquius S, Tung N, van Asperen CJ, Vega A, Viel A, Vierstraete J, Wappenschmidt B, Weitzel JN, Wieme G, Yoon SY, Zorn KK, McGuffog L, Parsons MT, Hamann U, Greene MH, Kirk JA, Neuhausen SL, Rebbeck TR, Tischkowitz M, Chenevix-Trench G, Antoniou AC, Friedman E, and Ottini L (2020). Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). JAMA Oncol 6, 1218-30.

Yang X, Leslie G, Doroszuk A, Schneider S, Allen J, Decker B, Dunning AM, Redman J, Scarth J, Plaskocinska I, Luccarini C, Shah M, Pooley K, Dorling L, Lee A, Adank MA, Adlard J, Aittomaki K, Andrulis IL, Ang P, Barwell J, Bernstein JL, Bobolis K, Borg A, Blomqvist C, Claes KBM, Concannon P, Cuggia A, Culver JO, Damiola F, de Pauw A, Diez O, Dolinsky JS, Domchek SM, Engel C, Evans DG, Fostira F, Garber J, Golmard L, Goode EL, Gruber SB, Hahnen E, Hake C, Heikkinen T, Hurley JE, Janavicius R, Kleibl Z, Kleiblova P, Konstantopoulou I, Kvist A, Laduca H, Lee ASG, Lesueur F, Maher ER, Mannermaa A, Manoukian S, McFarland R, McKinnon W, Meindl A, Metcalfe K, Mohd Taib NA, Moilanen J, Nathanson KL, Neuhausen S, Ng PS, Nguyen-Dumont T, Nielsen SM, Obermair F, Offit K, Olopade OI, Ottini L, Penkert J, Pylkas K, Radice P, Ramus SJ, Rudaitis V, Side L, Silva-Smith R, Silvestri V, Skytte AB, Slavin T, Soukupova J, Tondini C, Trainer AH, Unzeitig G, Usha L, van Overeem Hansen T, Whitworth J, Wood M, Yip CH, Yoon SY, Yussuf A, Zogopoulos G, Goldgar D, Hopper JL, Chenevix-Trench G, Pharoah P, George SHL, Balmana J, Houdayer C, James P, El-Haffaf Z, Ehrencrona H, Janatova M, Peterlongo P, Nevanlinna H, Schmutzler R, Teo SH, Robson M, Pal T, Couch F, Weitzel JN, Elliott A, Southey M, Winqvist R, Easton DF, Foulkes WD, Antoniou AC, and Tischkowitz M (2020a). Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families. J Clin Oncol 38, 674-85.

Yang X, Song H, Leslie G, Engel C, Hahnen E, Auber B, Horvath J, Kast K, Niederacher D, Turnbull C, Houlston R, Hanson H, Loveday C, Dolinsky JS, LaDuca H, Ramus SJ, Menon U, Rosenthal AN, Jacobs I, Gayther SA, Dicks E, Nevanlinna H, Aittomaki K, Pelttari LM, Ehrencrona H, Borg A, Kvist A, Rivera B, Hansen TVO, Djursby M, Lee A, Dennis J, Bowtell DD, Traficante N, Diez O, Balmana J, Gruber SB, Chenevix-Trench G, kConFab I, Jensen A, Kjaer SK, Hogdall E, Castera L, Garber J, Janavicius R, Osorio A, Golmard L, Vega A, Couch FJ, Robson M, Gronwald J, Domchek SM, Culver JO, de la Hoya M, Easton DF, Foulkes WD, Tischkowitz M, Meindl A, Schmutzler RK, Pharoah PDP, and Antoniou AC (2020b). Ovarian and breast cancer risks associated with pathogenic variants in RAD51C and RAD51D. J Natl Cancer Inst 10.1093/jnci/djaa030.

Name	Purpose	Lifetime	Type	Provider
CookieConsent	Saves your consent to using cookies.	1 year	HTML	Website
fe_typo_user	Assigns your browser to a session on the server.	session	HTTP	Website

Name	Purpose	Lifetime	Type	Provider
_ga	Used to distinguish users.	2 years	HTML	Google
_gat	Used to throttle request rate.	1 day	HTML	Google
_gid	Used to distinguish users.	1 day	HTML	Google

Schmutzler, Rita - assoc. RG 20

Investigation of the genetic causes of breast and ovarian cancer