Nearly 3% of the population carries genetic variants that lead to conditions that include
hereditary breast and ovarian cancer and Lynch syndrome. These pathogenic variants …

Hereditary breast and ovarian cancer syndrome (HBOC) is clinically defined by family
history criteria, and molecularly defined by identification of germline pathogenic variants …

The field of germline genetic testing for breast cancer (BC) risk has evolved substantially in
the last decade. The introduction of multigene panel testing (MGPT) led to an urgent need to …

Low‐grade serous ovarian carcinoma (LGSOC) is associated with a poor response to
existing chemotherapy, highlighting the need to perform comprehensive genomic analysis …

Purpose To consider the impact and cost-effectiveness of offering preventive population
genomic screening to all young adults in a single-payer health-care system. Methods We …

Background: Several available data suggest the association between specific molecular
subtypes and BRCA1/2 mutational status. Previous investigations showed the association …

Recent advances in the detection of germline pathogenic variants (PVs) in BRCA1/2 genes
have allowed a deeper understanding of the BRCA-related cancer risk. Several studies …

Germline mutations in cancer-susceptibility-genes (CSG) can dramatically increase
womens' lifetime risk of ovarian, endometrial, breast and bowel cancers. Identification of …

Genomic medicine is expanding from a focus on diagnosis at the patient level to prevention
at the population level given the ongoing under-ascertainment of high-risk and actionable …

About 10–20% of breast/ovarian (BC/OC) cancer patients undergoing germline BRCA1/2
genetic testing have been shown to harbor Variants of Uncertain Significance (VUSs). Since …