Prevalence and opinions regarding BRCA genetic testing and counseling in a racially and ethnically diverse population of women with epithelial ovarian cancer

PURPOSE To provide recommendations on genetic and tumor testing for women diagnosed with epithelial ovarian cancer based on available evidence and expert consensus. METHODS A literature search and prospectively defined study selection criteria sought systematic reviews, meta-analyses, randomized controlled trials (RCTs), and comparative observational studies published from 2007 through 2019. Guideline recommendations were based on the review of the evidence. RESULTS The systematic review identified 19 eligible studies. The evidence consisted of systematic reviews of observational data, consensus guidelines, and RCTs. RECOMMENDATIONS All women diagnosed with epithelial ovarian cancer should have germline genetic testing for BRCA1/2 and other ovarian cancer susceptibility genes. In women who do not carry a germline pathogenic or likely pathogenic BRCA1/2 variant, somatic tumor testing for BRCA1/2 pathogenic or likely pathogenic variants should be performed. Women with identified germline or somatic pathogenic or likely pathogenic variants in BRCA1/2 genes should be offered treatments that are US Food and Drug Administration (FDA) approved in the upfront and the recurrent setting. Women diagnosed with clear cell, endometrioid, or mucinous ovarian cancer should be offered somatic tumor testing for mismatch repair deficiency (dMMR). Women with identified dMMR should be offered FDA-approved treatment based on these results. Genetic evaluations should be conducted in conjunction with health care providers familiar with the diagnosis and management of hereditary cancer. First- or second-degree blood relatives of a patient with ovarian cancer with a known germline pathogenic cancer susceptibility gene variant should be offered individualized genetic risk evaluation, counseling, and genetic testing. Clinical decision making should not be made based on a variant of uncertain significance. Women with epithelial ovarian cancer should have testing at the time of diagnosis.

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BRCA mutations and outcome in epithelial ovarian cancer (EOC): experience in ethnically diverse groups

10.26226/morressier.5770e29bd462b80290b4bb80 ◽

2016 ◽

Author(s):

Tamar Safra

Keyword(s):

Ovarian Cancer ◽

Epithelial Ovarian Cancer ◽

Ethnically Diverse ◽

Brca Mutations ◽

Diverse Groups

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A screening and prevention programme serving an ethnically diverse population of women at high risk of developing breast and/or ovarian cancer

ecancermedicalscience ◽

10.3332/ecancer.2009.123 ◽

2009 ◽

Vol 3 ◽

Cited By ~ 2

Author(s):

J Smith ◽

L Baer ◽

S Blank ◽

A Dilawari ◽

K Carapetyan ◽

...

Keyword(s):

Ovarian Cancer ◽

High Risk ◽

Ethnically Diverse ◽

Prevention Programme ◽

Diverse Population ◽

Screening And Prevention

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Utilization and Outcomes of BRCA Genetic Testing and Counseling in a National Commercially Insured Population

Obstetrical & Gynecological Survey ◽

10.1097/01.ogx.0000482583.01182.ea ◽

2016 ◽

Vol 71 (5) ◽

pp. 287-288

Author(s):

Joanne Armstrong ◽

Michele Toscano ◽

Nancy Kotchko ◽

Sue Friedman ◽

Marc D. Schwartz ◽

...

Keyword(s):

Genetic Testing ◽

Brca Genetic Testing ◽

Testing And Counseling

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Epithelial Ovarian Cancer Metastatic to the Central Nervous System and a Family History Concerning for Hereditary Breast and Ovarian Cancer—A Potential Relationship

International Journal of Gynecological Cancer ◽

10.1097/igc.0000000000000489 ◽

2015 ◽

Vol 25 (7) ◽

pp. 1232-1238 ◽

Cited By ~ 7

Author(s):

Amelia M. Jernigan ◽

Haider Mahdi ◽

Peter G. Rose

Keyword(s):

Ovarian Cancer ◽

Central Nervous System ◽

Nervous System ◽

Genetic Testing ◽

Family History ◽

Epithelial Ovarian Cancer ◽

Survival Outcomes ◽

Breast And Ovarian Cancer ◽

Cns Metastasis ◽

Potential Relationship

ObjectivesTo estimate the frequency of hereditary breast and ovarian cancer (HBOC) in women with central nervous system (CNS) metastasis from epithelial ovarian cancer (EOC) and to evaluate for a potential relationship between HBOC status and survival.Methods and MaterialsA total of 1240 cases of EOC treated between 1995 and 2014 were reviewed to identify CNS metastasis. Demographics, treatment, family history, genetic testing, and survival outcomes were recorded. Women were then classified as HBOC+ or HBOC− based on histories and genetic testing results. Kaplan-Meier survival curves and univariable Cox proportional hazards models were used.ResultsOf 1240 cases, 32 cases of EOC with CNS metastasis were identified (2.58%). Median age was 52.13 (95% confidence interval [CI], 40.56–78.38) years, and 87.10% had stage III to IV disease. Among those with documented personal and family history, 66.7% (20/30) were suspicious for HBOC syndrome. Among those who underwent germline testing, 71.43% (5/7) had a pathogenic BRCA mutation. The median time from diagnosis to CNS metastasis was 29.17 (95% CI, 0–187.91) months. At a median survival of 5.97 (95% CI, 0.20–116.95) months from the time of CNS metastasis and 43.76 (95% CI, 1.54-188.44) months from the time of EOC diagnosis, 29 women died of disease. Univariate Cox proportional hazard models were used to compare HBOC− to HBOC+ women and did not reveal a significant difference for survival outcomes.ConclusionsConfirmed BRCA mutations and histories concerning for HBOC syndrome are common in women with EOC metastatic to the CNS. We did not demonstrate a relationship between HBOC status and survival outcomes, but were not powered to do so.

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