Importance Germline pathogenic variants inBRCA1andBRCA2predispose to an increased
lifetime risk of breast cancer. However, the relevance of germline variants in other genes …

Purpose We evaluated clinical and genetic features enriched in patients with multiple
Mendelian conditions to determine which patients are more likely to have multiple potentially …

Purpose Despite the rapid uptake of multigene panel testing (MGPT) for hereditary cancer
predisposition, there is limited guidance surrounding indications for testing and genes to …

Understanding clinical genetic test results in the era of next-generation sequencing has
become increasingly complex, necessitating clear and thorough guidelines for sequence …

Clinical interpretation of missense variants is challenging because the majority identified by
genetic testing are rare and their functional effects are unknown. Consequently, most …

Purpose Genetic predisposition to male breast cancer (MBC) is not well understood. The
aim of this study was to better define the predisposition genes contributing to MBC and the …

Purpose Most existing literature describes Lynch syndrome (LS) as a hereditary syndrome
leading to high risks of colorectal cancer (CRC) and endometrial cancer mainly as a result of …

Background The clinical phenotype of CDH1 pathogenic variant carriers has mostly been
studied in families that fulfil criteria of hereditary diffuse gastric cancer (HDGC). We aimed at …

Background The germline cancer predisposition genes associated with increased risk of
each clinical subtype of breast cancer, defined by estrogen receptor (ER), progesterone …

Importance Personalized surveillance, prophylaxis, and cancer treatment options for
individuals with hereditary cancer predisposition are informed by results of germline genetic …