4 research outputs found
Pedigrees of families with germline mutations in <i>PALB2</i>.
<p>(A) Family pedigree of BRC945, carrier of c.1037_1041delAAGAA [STOP358]. (B) Family pedigree of BRC859, carrier of c.2606delC [S869X]. (C) Family pedigree of BRC1126, carrier of c.1050delAACA [STOP353]. Index patients are indicated with an arrow while individuals affected with breast cancer are indicated with filled symbol. Date of birth (DOB) and age of diagnosis (in bracket) foraffected individuals are indicated. Deceased individuals are indicated with a slash.</p
Sequence variants identified in the <i>BRCA1</i> gene.
<p>MS, missense; Syn, synonymous; FS, frameshift; VUS, variant of uncertain significance; BIC, Breast Information Core</p
Sequence variants identified in the <i>BRCA2</i> gene.
*<p>These sequence alterations are likely to be polymorphisms. They have been classified as benign as allelic frequency data from population studies are not currently available. MS, missense; Syn, synonymous; FS, frameshift; VUS, variant of uncertain significance; BIC, Breast Information Core</p
Additional file 2: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2
List of local ethics committees that granted approval for the access and use of the data in present study. (DOCX 23 kb