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Review
. 2019 Mar;46(1):37-53.
doi: 10.1016/j.ogc.2018.09.003.

Germline and Somatic Tumor Testing in Gynecologic Cancer Care

Jill Alldredge  1 , Leslie Randall  2
Affiliations
Review

Germline and Somatic Tumor Testing in Gynecologic Cancer Care

Jill Alldredge et al. Obstet Gynecol Clin North Am. 2019 Mar.

Abstract

New technologies have advanced the science of tumor biology and genomics. Commercially available germline and somatic testing modalities have the downstream benefits of enabling prevention strategies in women with hereditary cancers and their family members in addition to identifying women who benefit most from novel targeted therapeutics. The matrix of available testing is complex and evolving. Women's health providers need to be versed in benefits and limitations of available testing. Genetic counselors play a pivotal role in interpretation of relevant mutations, and in avoiding common pitfalls, but their skill set is not sufficient to optimally integrate cancer genomics into clinical practice.

Keywords: Genomics; Germline; Gynecologic cancer; Somatic; Tumor testing.

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Conflict of interest statement

Disclosures:

Neither author has any financial conflicts of interest to disclose.

Figures

Figure 1.
Figure 1.
Understanding germline and somatic mutations
Figure 2.
Figure 2.
Testing strategies to assess tumor behavior PCR – polymerase chain reaction, PD-L1 – programmed death ligand-1; FISH – fluorescent in-situ hybridization
Figure 3.
Figure 3.
Approach to testing strategies in ovarian cancer IHC: Immunohistochemistry; PARP: poly-ADP ribose polymerase; MSI: microsatellite instability; TMB: tumor mutational burden
Figure 4.
Figure 4.
Approach to testing strategies in uterine cancer
Figure 5.
Figure 5.
Review of criteria for genetic counseling assessment
Figure 6.
Figure 6.
Summary of Hereditary Cancer Syndromes HBOC-Hereditary Breast and Ovarian Cancer; HOC-Hereditary ovarian cancer; HNPCC-Hereditary non-polyposis colon cancer; SCTAT- sex cord stromal tumor with annular tubules; PPAP-polymerase proofreading-associated polyposis
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