title: Genetic testing for hereditary cancer predisposition: BRCA1/2, Lynch syndrome, and beyond.
abstract: Obstetrician/gynecologists and gynecologic oncologists serve an integral role in the care of women at increased hereditary risk of cancer. Their contribution includes initial identification of high risk patients, screening procedures like bimanual exam, trans-vaginal ultrasound and endometrial biopsy, prophylaxis via TAH and/or BSO, and chemoprevention. Further, gynecologists also serve a central role in the management of the secondary repercussions of efforts to mitigate increased cancer risks, including vasomotor symptoms, sexual function, bone health, cardiovascular disease, and mental health. The past several years has seen multiple new high and moderate penetrance genes introduced into the clinical care of women at increased risk of gynecologic malignancy. Awareness of these new genes and the availability of new multi-gene panel tests is critical for providers on the front-line of women's health.
authors.affiliation: Department of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, PA, United States. Electronic address: michael.hall@fccc.edu.
authors.forename: M J
authors.initials: MJ
authors.lastname: Hall
authors.affiliation: Department of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, PA, United States.
authors.forename: E I
authors.initials: EI
authors.lastname: Obeid
authors.affiliation: Department of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, PA, United States; Department of Gynecologic Oncology, Fox Chase Cancer Center, Philadelphia, PA, United States.
authors.forename: S C
authors.initials: SC
authors.lastname: Schwartz
authors.affiliation: Department of Gynecologic Oncology, Fox Chase Cancer Center, Philadelphia, PA, United States.
authors.forename: G
authors.initials: G
authors.lastname: Mantia-Smaldone
authors.affiliation: Department of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, PA, United States.
authors.forename: A D
authors.initials: AD
authors.lastname: Forman
authors.affiliation: Department of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, PA, United States.
authors.forename: M B
authors.initials: MB
authors.lastname: Daly
mesh_terms: D000328:Adult; D001943:Breast Neoplasms / Q000235:genetics*; D018890:Chemoprevention; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000175:diagnosis* / Q000235:genetics*; D055088:Early Detection of Cancer; D005260:Female; D059247:Fertility Preservation; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D005833:Genital Neoplasms, Female / Q000175:diagnosis / Q000235:genetics* / Q000517:prevention & control; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D019683:Penetrance; D065286:Prophylactic Surgical Procedures; D060728:Reproductive Health; D018570:Risk Assessment
keywords: BRCA1/2; Genetic risk; Lynch syndrome; Panel tests
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