Soon after the discovery of BRCA1 and BRCA2 over 20 years ago, it became apparent that
not all hereditary breast and/or ovarian cancer syndrome families were explained by …

All organisms depend on the ability of cells to accurately duplicate and segregate DNA into
progeny. However, DNA is frequently damaged by factors in the environment and from …

The current study aimed to identify new breast and/or ovarian cancer predisposition genes.
For that, whole‐exome sequencing (WES) was performed in the germline DNA of 52 non …

Abstract Background The Hereditary Breast and Ovarian Cancer Syndrome (HBOC) occurs
in families with a history of breast/ovarian cancer, presenting an autosomal dominant …

PURPOSE To report on pathogenic germline variants detected among individuals
undergoing genetic testing for hereditary breast and/or ovarian cancer (HBOC) from Latin …

Purpose: Hereditary Breast and Ovarian Cancer (HBOC) syndrome is responsible for~ 5–
10% of all diagnosed breast and ovarian cancers. Breast cancer is the most common …

Over the last two decades, numerous BARD1 mutations/pathogenic variants (PVs) have
been found in patients with breast cancer (BC) and ovarian cancer (OC). However, their role …

Background The incidence of cholangiocarcinoma (CCA) has risen in recent years, and it
has become a significant health burden worldwide. However, the mechanisms underlying …

Germline mutations in BRCA1 and BRCA2 (BRCA1/2) genes are present in about 50% of
cases of hereditary breast cancer. Proteins encoded by these genes are key players in DNA …

The application of next-generation sequencing (NGS) technologies in cancer research has
accelerated the discovery of somatic mutations; however, progress in the identification of …