Case report of a rare variant of BRCA2 germline mutation in an ovarian cancer patient
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CASE REPORT
Case report of a rare variant of BRCA2 germline mutation in an ovarian cancer patient Sudha S. Murthy1 • Vaishnavi Kunteepuram1 • Krishna Mohan Mallavarapu2 • T. Nageswara Rao1 B. Vishal Rao1 • T. Subramanyeshwar Rao3
•
Received: 9 August 2020 / Accepted: 18 September 2020 Ó Association of Gynecologic Oncologists of India 2020
Abstract We report a germline c.5141_5144delATTT mutation in BRCA2 gene, detected in a 49-year-old Indian woman with ovarian cancer. This deletion was also detected in her sister who is not affected by the disease at the moment. The mutation results in a premature stop at codon 1714 of BRCA2 protein and has not been documented from India in any published reports to the best of our knowledge. Keywords BRCA2 Germline mutation Ovary Serous carcinoma
Introduction Ovarian cancer is an important cause of mortality and morbidity and is the second most common malignancies affecting women in India. In 2018, approximately 36,170 new cases and 24,015 mortalities due to ovarian cancer were reported in India (GLOBOCAN 2018) [1]. Patients with ovarian cancer have poor survival rates due to lack of & Sudha S. Murthy [email protected] Vaishnavi Kunteepuram [email protected] Krishna Mohan Mallavarapu [email protected] T. Nageswara Rao [email protected] B. Vishal Rao [email protected] T. Subramanyeshwar Rao [email protected] 1
Departments of Pathology & Laboratory Medicine, Basavatarakam Indo-American Cancer Hospital and Research Institute, Hyderabad 500034, India
2
Medical Oncology, Basavatarakam Indo-American Cancer Hospital and Research Institute, Hyderabad 500034, India
3
Surgical Oncology, Basavatarakam Indo-American Cancer Hospital and Research Institute, Hyderabad 500034, India
efficient diagnostic methods for early detection and rapid progression to advanced stages. Screening for hereditary ovarian cancer is important for decreasing prevalence and improving patient survival as hereditary ovarian cancers tend to present as high-grade tumors in younger patients. Mutations in BRCA1 (BReast CAncer gene 1) and BRCA2 are associated with cancers of breast, ovary, pancreas and prostate [2]. BRCA1and BRCA2 are located on chromosomes 17q21 (80-kb DNA, 22 exons) and 13q12-13 (70-kb DNA, 26 exons), respectively [3, 4]. In ovarian cancer, the lifetime risk has been estimated to be 25–65% in women inheriting a BRCA1 mutation compared with a BRCA2 mutation (15–20%) [5, 6]. The lifetime risk of developing ovarian cancers in women with a BRCA1 mutation is 39%, and the estimates for BRCA2 are 11%, respectively [5]. The challenges for not diagnosing this tumor early are ineffective screening modalities and late presentation. The common methods used to manage BRCA mutation carriers are screening, prophylactic surgery and chemoprevention. We report a case of germline BRCA2 mutation in an ovarian cancer patient with a family history of breast, ovarian and uterine carcinoma. We carried out sequencing for BRCA1 and BRCA2 genes after pretest genetic counseling of
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