Breast cancer (BC) is the most common cancer of women all over the world. BRCA1 and
BRCA2 gene mutations comprise the most important genetic susceptibility of BC. Except for …

Germ‐line mutations within BRCA1 are responsible for different proportions of inherited
susceptibility to breast/ovarian cancer, and the spectrum of mutations within this gene is …

Background Germline inactivating mutations in BRCA1 and BRCA2 underlie a major
proportion of the inherited predisposition to breast and ovarian cancer. These mutations are …

We have screened index cases from 25 Russian breast/ovarian cancer families for germ‐
line mutations in all coding exons of the BRCA1 and BRCA2 genes, using multiplex …

Objective: Mutations in the gene encoding the gap junction protein connexin 26 (GJB2) have
been shown as a major contributor to prelingual, sensorineural, nonsyndromic, recessive …

We have screened 473 breast/ovarian cancer patients with family history, aiming to define
the prevalence and enrich the spectrum of BRCA1/2 pathogenic mutations occurring in the …

BRCA1 and BRCA2 genes were screened for loss-of-function mutations in a series of 85
patients having at least one first-or second-degree relative affected by breast and/or ovarian …

The identification of genomic rearrangements in breast/ovarian cancer families has widened
the mutational spectrum of the BRCA1 gene, increasing the number of patients who can …

Abstract 127 Greek breast/ovarian cancer families were screened for germline BRCA1/2
mutations by dHPLC followed by direct sequencing. Our results indicated 16 and 5 …

Background Inheritance of a mutation in either BRCA1 or BRCA2 accounts for
approximately 5% of all breast cancer cases, but varies by country. Investigations into the …