BRCA2

One in three highly selected Greek patients with breast cancer carries a loss-of-function variant in a cancer susceptibility gene
Florentia Fostira, Irene Kostantopoulou, Paraskevi Apostolou, Myrto S Papamentzelopoulou, Christos Papadimitriou, Eleni Faliakou, Christos Christodoulou, Ioannis Boukovinas, Evangelia Razis, Dimitrios Tryfonopoulos, Vasileios Barbounis, Andromache Vagena, Ioannis S Vlachos, Despoina Kalfakakou, George Fountzilas, Drakoulis Yannoukakos

Journal of Medical Genetics Jan 2020, 57 (1) 53-61; DOI: 10.1136/jmedgenet-2019-106189
BRCA1 andBRCA2 mutation status and cancer family history of Danish women affected with multifocal or bilateral breast cancer at a young age
J T Bergthorsson, B Ejlertsen, J H Olsen, A Borg, K V Nielsen, R B Barkardottir, S Klausen, H T Mouridsen, K Winther, K Fenger, A Niebuhr, T L Harboe, E Niebuhr

Journal of Medical Genetics Jun 2001, 38 (6) 361-368; DOI: 10.1136/jmg.38.6.361
Germline BRCA1 and BRCA2 testing for breast cancer survivors
Jennifer Wiggins, Anne McLoughlin, Angela George, Alistair Ring, Zoe Kemp

Journal of Medical Genetics Aug 2020, 57 (8) 528-530; DOI: 10.1136/jmedgenet-2019-106420
Prevalence of germline pathogenic BRCA1/2 variants in sequential epithelial ovarian cancer cases
Robert D Morgan, George J Burghel, Nicola Flaum, Michael Bulman, Andrew R Clamp, Jurjees Hasan, Claire L Mitchell, Helene Schlecht, Emma R Woodward, Fiona I Lallo, Emma J Crosbie, Richard J Edmondson, Andrew J Wallace, Gordon C Jayson, D Gareth R Evans

Journal of Medical Genetics May 2019, 56 (5) 301-307; DOI: 10.1136/jmedgenet-2018-105792
Reclassification of BRCA1 and BRCA2 variants of uncertain significance: a multifactorial analysis of multicentre prospective cohort
Jee-Soo Lee, Sohee Oh, Sue Kyung Park, Min-Hyuk Lee, Jong Won Lee, Sung-Won Kim, Byung Ho Son, Dong-Young Noh, Jeong Eon Lee, Hai-Lin Park, Man Jin Kim, Sung Im Cho, Young Kyung Lee, Sung Sup Park, Moon-Woo Seong

Journal of Medical Genetics Dec 2018, 55 (12) 794-802; DOI: 10.1136/jmedgenet-2018-105565
Penetrance estimates for BRCA1, BRCA2 (also applied to Lynch syndrome) based on presymptomatic testing: a new unbiased method to assess risk?
D Gareth Evans, Emma Woodward, Elaine F Harkness, Anthony Howell, Inga Plaskocinska, Eamonn R Maher, Marc D Tischkowitz, Fiona Lalloo

Journal of Medical Genetics Jul 2018, 55 (7) 442-448; DOI: 10.1136/jmedgenet-2017-105223
Inherited mutations in BRCA1 and BRCA2 in an unselected multiethnic cohort of Asian patients with breast cancer and healthy controls from Malaysia
Wei Xiong Wen, Jamie Allen, Kah Nyin Lai, Shivaani Mariapun, Siti Norhidayu Hasan, Pei Sze Ng, Daphne Shin-Chi Lee, Sheau Yee Lee, Sook-Yee Yoon, Joanna Lim, Shao Yan Lau, Brennan Decker, Karen Pooley, Leila Dorling, Craig Luccarini, Caroline Baynes, Don M Conroy, Patricia Harrington, Jacques Simard, Cheng Har Yip, Nur Aishah Mohd Taib, Weang Kee Ho, Antonis C Antoniou, Alison M Dunning, Douglas F Easton, Soo Hwang Teo

Journal of Medical Genetics Feb 2018, 55 (2) 97-103; DOI: 10.1136/jmedgenet-2017-104947
Pathology update to the Manchester Scoring System based on testing in over 4000 families
D Gareth Evans, Elaine F Harkness, Inga Plaskocinska, Andrew J Wallace, Tara Clancy, Emma R Woodward, Tony A Howell, Marc Tischkowitz, Fiona Lalloo

Journal of Medical Genetics Oct 2017, 54 (10) 674-681; DOI: 10.1136/jmedgenet-2017-104584
DNA repair-related functional assays for the classification of BRCA1 and BRCA2 variants: a critical review and needs assessment
Amanda Ewart Toland, Paul R Andreassen

Journal of Medical Genetics Nov 2017, 54 (11) 721-731; DOI: 10.1136/jmedgenet-2017-104707
The impact of a panel of 18 SNPs on breast cancer risk in women attending a UK familial screening clinic: a case–control study
D Gareth Evans, Adam Brentnall, Helen Byers, Elaine Harkness, Paula Stavrinos, Anthony Howell, FH-risk study Group, William G Newman, Jack Cuzick

Journal of Medical Genetics Feb 2017, 54 (2) 111-113; DOI: 10.1136/jmedgenet-2016-104125

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