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Prevalence of Germline BRCA Mutations in Indian Women With Ovarian Cancer


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Ovarian cancer is one of the most common gynecologic cancers, with 313,959 new cases and 207,252 deaths reported worldwide in 2020.1 Since there is no effective screening method, ovarian cancer in general is diagnosed in its late stage. The 5-year survival rate in women with ovarian cancer is less than 50%.

Individuals who carry pathogenic BRCA mutations have a 20% to 40% chance of developing ovarian cancer. Thus, identifying BRCA mutations can potentially increase the chance of early detection or effective preventive surgeries. In patients with a diagnosis of ovarian cancer, identifying the genetic mutation will help to optimize management options. This is important with the current approval of PARP (poly [ADP ribose] polymerase) inhibitors for ovarian cancer, including olaparib, niraparib, and rucaparib.

Ovarian cancer is the third most common cancer among women in India, after breast and cervical cancers, but it accounts for more deaths than any other cancer among women. Any intervention that can potentially prevent, facilitate early diagnosis, or present treatment options for ovarian cancer should be explored. Even though testing for BRCA mutations is widely adopted in the United States and other Western countries, it is not routinely done in India and the rest of the world, even among persons who meet testing criteria per the National Comprehensive Cancer Network (NCCN) Clinical Practice Guidelines in Oncology. This is due to many reasons, including the paucity of data on prevalence of BRCA mutations among Indian women and the lack of awareness among physicians about the importance of testing.


It is important for treating oncologists to make an informed decision for patients with ovarian cancer about undergoing germline testing, which can clearly change their management and outcomes.
— Jame Abraham, MD, FACP

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Need for Informed Decisions About Germline Testing

An important study by Gupta et al of Tata Memorial Hospital in Mumbai—reported in JCO Global Oncology1 and summarized in this issue of The ASCO Post—provides much-needed information on the prevalence of BRCA1 and BRCA2 mutations among patients with ovarian, primary peritoneal, and fallopian tube cancers in India. They studied 239 women, with a median age of 53 years (range = 23–86 years); 203 (84.9%) had newly diagnosed disease, 36 (15.1%) had a family history of ovarian or breast cancer, and 159 (66.5%) had the serous subtype of epithelial ovarian cancer. Overall, 230 patients (96.2%) had ovarian cancer, 8 (3.3%) had primary peritoneal cancer, and 1 (0.4%) had fallopian tube cancer. In the study, germline pathogenic or likely pathogenic BRCA1 or BRCA2 variants were detected in 51 women (21.3%; 95% confidence interval [CI] = 16.3%–27.1%), including BRCA1 variants in 37 (15.5%, 95% CI = 11.1%–20.7%) and BRCA2 variants in 14 (5.9%, 95% CI = 3.2%–9.6%).

The NCCN recommends germline testing for any patient with a diagnosis of epithelial ovarian cancer, including fallopian tube cancer or peritoneal cancer, at any age. The study by Gupta et al confirms that the same recommendation should be adapted for Indian patients, since a BRCA mutation was seen in 21% of patients—raising tremendous implications for their management, including treatment with a PARP inhibitor. However, there are many hindrances to large-scale acceptance of testing in India, including the lack of testing availability, access to genetic counselors, and access to PARP inhibitors due to prohibitive cost. Nevertheless, even with all these limitations, it is important for treating oncologists to make an informed decision for patients with ovarian cancer about undergoing germline testing, which can clearly change their management and outcomes. 

Dr. Abraham is Chairman of the Department of Hematology and Medical ­Oncology at the Taussig Cancer Institute, Cleveland Clinic Lerner College of Medicine.

DISCLOSURE: Dr. Abraham has received institutional research funding from Daiichi Sankyo/AstraZeneca, Pfizer, and Seattle Genetics.

REFERENCE

1. Gupta S, Rajappa S, Advani S, et al: Prevalence of BRCA1 and BRCA2 mutations among patients with ovarian, primary peritoneal, and fallopian tube cancer in India: A multicenter cross-sectional study. JCO Glob Oncol 7:849-861, 2021.


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High Prevalence of Germline BRCA Mutations in Indian Women With Ovarian Cancer

In a prospective cross-sectional study reported in JCO Global Oncology, Sudeep Gupta, MBBS, MD, DM, of Tata Memorial Centre, and colleagues found that Indian women with ovarian cancer not selected for study based on clinical factors had a high prevalence of germline pathogenic or likely pathogenic...

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