Identifying disparities in germline and somatic testing for ovarian cancer

Huang, Marilyn; Kamath, Priyanka; Schlumbrecht, Matthew; Mao, Feng; Driscoll, Devin; Oldak, Sean; Slomovitz, Brian M.; Koru‐Sengul, Tulay; George, Sophia

doi:10.1016/j.ygyno.2019.03.007

Cited by 34 publications

(35 citation statements)

References 22 publications

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“…Overall, we found that germline and somatic BRCA1/2 mutations had prevalence rates of 20.3 and 4.1%, respectively. Disparities in both germline and somatic testing exist (44,45). Regarding other Chinese studies, our germline mutation prevalence approximated the values reported by Li (35).…”

Section: Discussionsupporting

confidence: 85%

Germline and Somatic BRCA1/2 Mutations in 172 Chinese Women With Epithelial Ovarian Cancer

You

et al. 2020

Front. Oncol.

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Objective: Despite several nationwide cohort studies of germline BRCA1/2 mutations and several small cohort studies of somatic BRCA1/2 mutations in Chinese epithelial ovarian cancer (EOC) patients, little is known about the impact of these findings on survival outcomes in this population. In this study of 172 retrospectively recruited Chinese EOC patients, germline and somatic BRCA1/2 mutations and their value for predicting survival outcomes were evaluated. Methods: Unselected patients who visited the study center from January 1, 2011, to January 1, 2015, were recruited and asked to provide peripheral blood samples for this study if they were pathologically confirmed to have primary EOC. All patients received staging surgeries or debulking surgeries involving systemic platinum-based chemotherapy, and the patients were then followed up to December 1, 2017. DNA was extracted from formalin-fixed, paraffin-embedded (FFPE) sections and peripheral blood and sequenced for somatic and germline testing, respectively. The demographic and clinicopathological characteristics of the patients were collected to analyze the distribution of BRCA mutations in subgroups. Survival outcomes were compared among various BRCA mutation statuses using univariate and multivariate models. Results: In 58 (33.7%) patients, 63 variants were identified, including variants of unknown significance (VUS) in 18 patients (10.5%) and pathogenic or likely pathogenic variants in a partially overlapping set of 41 patients (23.8%). Germline BRCA mutations, somatic BRCA mutations, BRCA1 mutations in general, and BRCA2 mutations in general were found in 35 (20.3%), 7 (4.1%), 28 (16.3%), and 13 (7.6%) patients, respectively. Five recurrent mutations were identified. Personal and family cancer histories as well as hereditary breast and ovarian cancer (HBOC) criteria were associated with deleterious BRCA mutations both overall and in the germline specifically, whereas only age at diagnosis of EOC was associated with somatic BRCA mutations. In univariate and Cox regression analyses, patients with BRCA1/2 mutations in general had significant improvements in progression-free survival (PFS) and overall survival (OS). You et al. Germline and Somatic BRCA1/2 Mutations in EOC Conclusions: In Chinese EOC patients, the distributions and risk factors associated with germline and somatic BRCA1/2 mutations were similar to those previously reported in international studies. Deleterious BRCA mutations in general were associated with improved survival outcomes in this cohort.

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Section: Discussionsupporting

confidence: 85%

Germline and Somatic BRCA1/2 Mutations in 172 Chinese Women With Epithelial Ovarian Cancer

You

et al. 2020

Front. Oncol.

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“…24 Disparities in genetic medicine are not limited to germline testing and extend to somatic tumor profiling as well. Huang et al 25 found that patients with ovarian cancer with Medicaid insurance were less likely than those with private insurance to undergo somatic testing. Gamble et al 26 confirmed this finding, and their research suggests that inequity in testing rates has widened over time.…”

Section: Identifying Disparities In Genetic Testingmentioning

confidence: 99%

Genetic Testing for All: Overcoming Disparities in Ovarian Cancer Genetic Testing

Frey

Finch

Kulkarni

et al. 2022

American Society of Clinical Oncology Educational Book

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Nearly 3% of the population carries genetic variants that lead to conditions that include hereditary breast and ovarian cancer and Lynch syndrome. These pathogenic variants account for approximately 20% of ovarian cancer cases, and those with germline pathogenic variants have an odds ratio between 4 and 40 for developing ovarian cancer compared with noncarriers. Given the high prevalence of genetic variants, multiple organizations, including ASCO, recommend universal genetic counseling and testing for women diagnosed with epithelial ovarian cancer. Unfortunately, most individuals with a hereditary ovarian cancer syndrome are unaware of their underlying mutation, and racial and ethnic minority individuals as well as patients of low socioeconomic status experience disproportionate rates of underrecognition, leading to late and missed diagnoses. In this article, we review the current understanding of disparities in genetic testing for people with ovarian cancer, the role of population-based genetic testing, and innovative strategies to overcome the critical inequities present in current cancer genetic medicine. Underuse and disparities related to accessing recommended genetic services are complex and multifactorial, requiring improvements in processes related to provider identification, genetic counseling and testing referral, and patient uptake/adherence. Through the expansion of remote genetic counseling, offering online strategies for genetic testing, and reaching at-risk relatives through direct relative contact cascade testing and population-based genetic testing, there are a growing number of innovations in the field of genetic medicine, many of which emphasize health equity and offer promising alternatives to the current paradigm of genetic testing.

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“…39 People of African descent are understudied and undertested in both the breast and gynecologic cancer settings. 40,41 Targeted genetic testing of only BRCA1 and BRCA2 is insufficient in Caribbean women, and panel (multigene) testing should be recommended. 42 Adjustment of the threshold recommendations for multigene panel testing in both Caribbean-born individuals and those of Caribbean ancestry might be warranted given the high incidence of pathogenic variants.…”

Section: Discussionmentioning

confidence: 99%

Gene Sequencing for Pathogenic Variants Among Adults With Breast and Ovarian Cancer in the Caribbean

et al. 2021

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IMPORTANCE Rates of breast and ovarian cancer are high in the Caribbean; however, to date, few published data quantify the prevalence of inherited cancer in the Caribbean population. OBJECTIVE To determine whether deleterious variants in genes that characterize the hereditary breast and ovarian cancer syndrome are associated with the development of breast and ovarian cancer in the English-and Creole-speaking Caribbean populations.

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Identifying disparities in germline and somatic testing for ovarian cancer

Cited by 34 publications

References 22 publications

Germline and Somatic BRCA1/2 Mutations in 172 Chinese Women With Epithelial Ovarian Cancer

Germline and Somatic BRCA1/2 Mutations in 172 Chinese Women With Epithelial Ovarian Cancer

Genetic Testing for All: Overcoming Disparities in Ovarian Cancer Genetic Testing

Gene Sequencing for Pathogenic Variants Among Adults With Breast and Ovarian Cancer in the Caribbean

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