Article
Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines.
Journal of medical genetics - 1 Jun 2023
Luo Xi, Maciaszek Jamie L, Thompson Bryony A, Leong Huei San, Dixon Katherine, Sousa Sónia, Anderson Michael, Roberts Maegan E, Lee Kristy, Spurdle Amanda B, Mensenkamp Arjen R, Brannan Terra, Pardo Carolina, Zhang Liying, Pesaran Tina, Wei Sainan, Fasaye Grace-Ann, Kesserwan Chimene, Shirts Brian H, Davis Jeremy L, Oliveira Carla, Plon Sharon E, Schrader Kasmintan A, Karam Rachid
Abstract excerpt
BACKGROUND: Germline pathogenic variants in CDH1 are associated with increased risk of diffuse gastric cancer and lobular breast cancer. Risk reduction strategies include consideration of prophylactic surgery, thereby making accurate interpretation of germline CDH1 variants critical for physicians deciding on these procedures. The Clinical Genome Resource (ClinGen) CDH1 Variant Curation Expert Panel (VCEP)...
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