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. 2018 Oct 31:8:490.
doi: 10.3389/fonc.2018.00490. eCollection 2018.

GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers

Fabienne Lesueur  1 , Noura Mebirouk  1 , Yue Jiao  2 , Laure Barjhoux  3 , Muriel Belotti  2 , Maïté Laurent  2 , Mélanie Léone  4 , Claude Houdayer  2 , Brigitte Bressac-de Paillerets  5 , Dominique Vaur  6 , Hagay Sobol  7 , Catherine Noguès  7 , Michel Longy  8 , Isabelle Mortemousque  9 , Sandra Fert-Ferrer  10 , Emmanuelle Mouret-Fourme  2 , Pascal Pujol  11 , Laurence Venat-Bouvet  12 , Yves-Jean Bignon  13 , Dominique Leroux  14 , Isabelle Coupier  11 , Pascaline Berthet  6 , Véronique Mari  15 , Capucine Delnatte  16 , Paul Gesta  17 , Marie-Agnès Collonge-Rame  18 , Sophie Giraud  4 , Valérie Bonadona  19   20 , Amandine Baurand  21 , Laurence Faivre  21 , Bruno Buecher  2 , Christine Lasset  19   20 , Marion Gauthier-Villars  2 , Francesca Damiola  3 , Sylvie Mazoyer  22 , Sandrine M Caputo  2 , Nadine Andrieu  1 , Dominique Stoppa-Lyonnet  2   23 ; GEMO Study Collaborators
Affiliations

GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers

Fabienne Lesueur et al. Front Oncol. .
No abstract available

Keywords: BRCA1/2 mutation carriers; DNA banking; breast cancer; genetic epidemiology; pathogenic variant (PV).

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Figures

Figure 1
Figure 1
Distribution and occurrence of pathogenic variants along BRCA1 (A) and BRCA2 (B) in probands in the GEMO study. BRCA1 domains are: RING domain, Coiled Coil domains, BRCT (BRCA1 C-terminal) domains (14, 27). BRCA2 domains are: BRC repeats, helical domain (HD), OB fold binding domains, tower alpha (14, 28). Breast cancer risk regions: LR1, lower risk region in BRCA1, LR2 lower risk region in BRCA2, HR2, higher risk region in BRCA2 (29); BCCR, breast cancer cluster region (14); Ovarian cancer risk regions: OCCR, ovarian cancer cluster region (14).
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