The promising expectations about personalized medicine have opened the path to routine
large-scale sequencing and increased the importance of genetic counseling for hereditary …

Inherited predisposition to haematopoietic malignancies, due to deleterious germline
variants in a variety of genes, is an important clinical entity with implications for the health …

Purpose Mosaic BRCA1 promoter methylation (BRCA1 meth) increases the risk of early-
onset breast cancer, triple-negative breast cancer and ovarian cancer. As mosaic BRCA1 …

Women who are heterozygous for deleterious BRCA1 germline mutations harbor a high risk
of hereditary breast cancer. Previous Brca1‐heterozygous animal models do not …

Background BRCA1 and BRCA2 genes are currently proven to be closely related to high
lifetime risks of breast cancer. To date, the closely related genes to BRCA1/2 mutations in …

Ovarian and breast cancers are currently defined by the main pathways involved in the
tumorigenesis. The majority are carcinomas, originating from epithelial cells that are in …

The breast cancer type 1 susceptibility protein (BRCA1) and its partner–the BRCA1-
associated RING domain protein 1 (BARD1)–are key players in a plethora of fundamental …

Simple Summary Recent estimates have shown that approx. 70% of individuals with BRCA1
mutations will develop breast cancer by the age of 70. To make matters worse, breast cancer …

We determined the frequency and mutational spectrum of BRCA1 and BRCA2 in a series of
patients at high risk for developing breast cancer from Brazil. A total of 1267 patients were …

Background Germline mutations in BRCA1 and BRCA2 (BRCA1/2) have been
conventionally analyzed by Sanger sequencing and multiplex ligation-dependent probe …