Testing for Hereditary Predisposition in Patients with Gynecologic Cancers, Quo Vadis?

Gillian Mitchell; Kasmintan A Schrader

doi:10.1016/j.path.2016.01.009

Testing for Hereditary Predisposition in Patients with Gynecologic Cancers, Quo Vadis?

Surg Pathol Clin. 2016 Jun;9(2):301-6. doi: 10.1016/j.path.2016.01.009. Epub 2016 Apr 11.

Authors

Gillian Mitchell¹, Kasmintan A Schrader²

Affiliations

¹ Hereditary Cancer Program, BC Cancer Agency, 600 West 10th Ave, Vancouver, British Columbia V5Z 4E6, Canada; Department of Medical Oncology, University of British Columbia, 2329 West Mall, Vancouver, British Columbia V6T 1Z4, Canada. Electronic address: Gillian.mitchell@bccancer.bc.ca.
² Hereditary Cancer Program, Department of Molecular Oncology, BC Cancer Agency, 600 Wet 10th Ave, Vancouver, British Columbia V5Z 4E6, Canada; Department of Medical Genetics, University of British Columbia, 2329 West Mall, Vancouver, British Columbia V6T 1Z4, Canada.

PMID: 27241110
DOI: 10.1016/j.path.2016.01.009

Abstract

Genetic testing for a hereditary predisposition to gynecologic cancers has been available clinically since the 1990s. Since then, knowledge of the hereditary contribution to gynecologic cancers has dramatically increased, especially with respect to ovarian cancer. Although knowledge of the number of gynecologic cancer-predisposing genes has increased, the integration of genetic predisposition testing into routine clinical practice has been much slower. This article summarizes the technical and practical aspects of genetic testing in gynecologic cancers, the potential barriers to more widespread access and practice of genetic testing for hereditary predisposition to gynecologic cancers, and the potential solutions to these barriers.

Keywords: Gene panels; Genetic predisposition; Gynecologic cancer; Multiplex genetic testing.

Publication types

Review

MeSH terms

Carney Complex / diagnosis
Carney Complex / genetics
Diagnosis, Differential
Enchondromatosis / diagnosis
Enchondromatosis / genetics
Female
Genetic Predisposition to Disease
Genetic Testing / methods
Genital Neoplasms, Female / diagnosis*
Genital Neoplasms, Female / genetics*
Hamartoma Syndrome, Multiple / diagnosis
Hamartoma Syndrome, Multiple / genetics
Humans
Leiomyomatosis / diagnosis
Leiomyomatosis / genetics
Lymphangioleiomyomatosis / diagnosis
Lymphangioleiomyomatosis / genetics
Neoplastic Syndromes, Hereditary / diagnosis*
Neoplastic Syndromes, Hereditary / genetics*
Perivascular Epithelioid Cell Neoplasms / diagnosis
Perivascular Epithelioid Cell Neoplasms / genetics
Prognosis
Skin Neoplasms / diagnosis
Skin Neoplasms / genetics
Tuberous Sclerosis / diagnosis
Tuberous Sclerosis / genetics
Uterine Neoplasms / diagnosis
Uterine Neoplasms / genetics

Supplementary concepts

Hereditary leiomyomatosis and renal cell cancer