Publications:

Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients.

Bmc Medical Genetics

Silva, Felipe C FC; Lisboa, Bianca Cg BC; Figueiredo, Marcia Cp MC; Torrezan, Giovana T GT; Santos, Erika Mm EM; Krepischi, Ana C AC; Rossi, Benedito M BM; Achatz, Maria I MI; Carraro, Dirce M DM

Publication Date: 2014-05-15

Variant appearance in text: BRCA2: 120A>G

PubMed Link: 24884479

Variant Present in the following documents:

• Main text
• 1471-2350-15-55.pdf

View BVdb publication page

Estimating penetrance from multiple case families with predisposing mutations: extension of the 'genotype-restricted likelihood' (GRL) method.

European Journal Of Human Genetics : Ejhg

Bonaïti, Bernard B; Bonadona, Valérie V; Perdry, Hervé H; Andrieu, Nadine N; Bonaïti-Pellié, Catherine C

Publication Date: 2011-02

Variant appearance in text: BRCA2: P40=

PubMed Link: 20924409

Variant Present in the following documents:

• Main text

View BVdb publication page