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2015
Mark FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.
Peterlongo, Paolo ; Catucci, Irene ; Colombo, Mara ; Caleca, Laura ; Mucaki, Eliseos ; Bogliolo, Massimo ; Marin, Maria ; Damiola, Francesca ; Bernard, Loris and Pensotti, Valeria , et al. (2015) In Human Molecular Genetics 24(18). p.5345-5355
- Contribution to journal › Article
Mark Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.
Rebbeck, Timothy R ; Mitra, Nandita ; Wan, Fei ; Sinilnikova, Olga M ; Healey, Sue ; McGuffog, Lesley ; Mazoyer, Sylvie ; Chenevix-Trench, Georgia ; Easton, Douglas F and Antoniou, Antonis C , et al. (2015) In JAMA: The Journal of the American Medical Association 313(13). p.1347-1361
- Contribution to journal › Article
2012
Mark Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers
Maia, Ana-Teresa ; Antoniou, Antonis C ; O'Reilly, Martin ; Samarajiwa, Shamith ; Dunning, Mark ; Kartsonaki, Christiana ; Chin, Suet-Feung ; Curtis, Christina N ; McGuffog, Lesley and Domchek, Susan M , et al. (2012) In Breast Cancer Research 14(2).
- Contribution to journal › Article
2011
Mark Exploring the link between MORF4L1 and risk of breast cancer
Martrat, Griselda ; Maxwell, Christopher A. ; Tominaga, Emiko ; Porta-de-la-Riva, Montserrat ; Bonifaci, Nuria ; Gomez-Baldo, Laia ; Bogliolo, Massimo ; Lazaro, Conxi ; Blanco, Ignacio and Brunet, Joan , et al. (2011) In Breast Cancer Research 13(2).
- Contribution to journal › Article
Mark Genetic Variation at 9p22.2 and Ovarian Cancer Risk for BRCA1 and BRCA2 Mutation Carriers.
Ramus, Susan J ; Kartsonaki, Christiana ; Gayther, Simon A ; Pharoah, Paul D P ; Sinilnikova, Olga M ; Beesley, Jonathan ; Chen, Xiaoqing ; McGuffog, Lesley ; Healey, Sue and Couch, Fergus J , et al. (2011) In Journal of the National Cancer Institute 103(2). p.105-116
- Contribution to journal › Article
2010
Mark Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers
Walker, Logan C. ; Fredericksen, Zachary S. ; Wang, Xianshu ; Tarrell, Robert ; Pankratz, Vernon S. ; Lindor, Noralane M. ; Beesley, Jonathan ; Healey, Sue ; Chen, Xiaoqing and Fab, K. Con , et al. (2010) In Breast Cancer Research 12(6).
- Contribution to journal › Article

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