Collaborator: Albert Einstein College of Medicine
-
Associations between breast cancer subtypes and mutations in cancer predisposition genes identified by clinical genetic testing of breast cancer patients
Clinical genetic testing of individuals with a personal or family history of breast and ovarian cancer using panels for BRCA1/2 and other candidate cancer predisposition genes has become routine clinical practice. Several of the genes on hereditary cancer testing panels have been strongly associated with specific subtypes of breast cancer. In particular, individuals with germline…
-
Inherited susceptibility to biliary tract and ampullary cancers.
Germline pathogenic mutations/likely pathogenic variants are detected in at least 14.5% of patients with biliary tract cancer and 20.8% of patients with ampullary cancers referred for multi-gene panel testing. The spectrum of germline mutations among these patients spans a range of cancer predisposition genes, many of which overlap with pancreatic cancer susceptibility.
-
Performance of ACMG/AMP variant interpretation guidelines among nine laboratories in the Clinical Sequencing Exploratory Research consortium
Performance of ACMG/AMP variant interpretation guidelines among nine laboratories in the Clinical Sequencing Exploratory Research consortium