Collaborator: Mayo Clinic
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Frequency of mutations in a large series of clinically ascertained ovarian cancer cases tested on multi-gene panels compared to reference controls
Abstract Objectives Given the lack of adequate screening modalities, knowledge of ovarian cancer risks for carriers of pathogenic alterations in predisposition genes is important for decisions about risk-reduction by salpingo-oophorectomy. We sought to determine which genes assayed on multi-gene panels are associated with ovarian cancer, the magnitude of the associations, and for which clinically meaningful…
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Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort
Abstract Purpose Genetic testing of individuals often results in identification of genomic variants of unknown significance (VUS). Multiple lines of evidence are used to help determine the clinical significance of these variants. Methods We analyzed ~138,000 individuals tested by multigene panel testing (MGPT). We used logistic regression to predict carrier status based on personal and…
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Exploration of germline mutation burden in a hereditary cancer panel cohort identifies gaps in cancer risk associations and testing and management guidelines.
In a large multigene panel testing cohort, genes commonly mutated among patients with breast, colorectal, ovarian, and endometrial cancers generally have established cancer risk estimates and management recommendations for the respective cancer types. In contrast, genes commonly mutated among pancreatic and prostate cancer patients are lacking associated cancer risk and management data. Research efforts focused…
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Cancer risks associated with predisposition gene mutations identified by hereditary cancer panel testing of 85,000 patients
Abstract 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 have become routine clinical practice. While the cumulative lifetime and age specific risks associated with mutations in BRCA1/2 in high-risk families and in the general population are well…
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Breast cancer risks associated with mutations in cancer predisposition genes identified by clinical genetic testing of 50,000 breast cancer patients
Clinical genetic testing panels are broadly used to gather information about cancer predisposition in individuals with personal and/or family history of breast cancer. However, the involvement of several of the genes that are included on clinical testing panels in predisposition to breast cancer has recently come into question. In addition, accurate risk estimates for breast…