Knowledge of genetic susceptibility to gastrointestinal cancers is constantly evolving with
identification of new genes. Similarly, a better understanding of the genotype/phenotype …

Background The purpose of this study was to estimate precise age-specific tubo-ovarian
carcinoma (TOC) and breast cancer (BC) risks for carriers of pathogenic variants in RAD51C …

Background It is estimated that more than 20% of ovarian cancer cases are associated with
a genetic predisposition that is only partially explained by germline mutations in the BRCA1 …

In the past two decades, multiple studies have been undertaken to elucidate the genetic
cause of the predisposition to mismatch repair (MMR)-proficient nonpolyposis colorectal …

Fanconi anemia (FA) is caused by biallelic mutations in FA genes. Monoallelic mutations in
five of these genes (BRCA1, BRCA2, PALB2, BRIP1 and RAD51C) increase the …

Mutations in BRCA1 and BRCA2 high penetrance genes account for most hereditary breast
and ovarian cancer, although other new high-moderate penetrance genes included in …

Simple Summary Hereditary Breast and Ovarian Cancer syndrome (HBOC) is an inherited
trait that predisposes adults to an earlier onset of cancer than the general population. HBOC …

Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome responsible for
1% of colorectal cancers (CRCs). Up to 90% of classic FAPs are caused by inactivating …

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 …

Motivation Germline variant classification allows accurate genetic diagnosis and risk
assessment. However, it is a tedious iterative process integrating information from several …