Journal of Gastrointestinal & Digestive System
Open Access

Abstract

Breast cancer is most common cancer in India as stated by the recent release of the International Agency for Research on Cancer (Globocon 2018). Hereditary causes of breast cancer are well known and Breast Cancer Related Antigen (BRCA) gene mutation is the most common of them. Besides breast cancer, BRCA mutation has been shown to an etiologic factor for other cancers like ovarian, uterine, prostate, pancreatic cancers, multiple cancers in an individual or family members. In India, BRCA gene mutational analysis is not readily accepted by the patients despite its important implications in family screening and treatment for the metastatic mutant disease. We did a retrospective analysis of 53 breast cancer patients who attended tertiary cancer care hospital in National Capital Region of India between January 2016 and August 2018 and were eligible for BRCA gene mutation testing. All patients were properly given pre-genetic counseling. Out of 53 patients, only 22(41.5%) finally consented for analysis of germline BRCA gene mutation. Twenty patients were enrolled in government insurance schemes and only 2 were self-employed. Thirteen (59%) patients had breast cancer, 3(13.6%) had both breast and ovarian cancer, 4 (18%) had ovarian cancer, one (4%) had uterine cancer and one (the only male patient) had prostate cancer. Of these 22 analyzed patients, 4(18%) were found to be having germline BRCA mutation. BRCA-1 was mutated in one patient and BRCA-2 in three patients. One patient and her family denied for post-genetic counseling and did not attend the outpatient clinic further. Rest three families attended educational and awareness programs and consented for screening all in terms of germline mutational investigation, regular clinical and radiological follow-up. Since one of these patients was having recurrent and metastatic breast cancer, she was started on Olaparib and showed a clinical response. Thirty-one patients (58.5%) refused the investigation due to financial constraints, social stigma and unwillingness to adopt prophylactic measures in case germline mutation turned out to be positive. Due to various social, economic and psychological barriers, the acceptability of BRCA analysis is poor in the Indian scenario. Denial for germline analysis in indicated clinical situations may delay or miss out the diagnosis of hereditary cancer syndromes and jeopardize the needed screening of family members for the possible malignancies.

Biography

Akhil Jain, Senior Medical Oncologist, has been practicing medicine at Fortis (IOSPL) Hospital, Noida. Having begun his career at BJ Medical College, Ahmedabad, Gujarat, India, he has worked at various reputed hospitals such as Sanjay Gandhi Memorial Hospital, Delhi; Ram Manohar Lohia Hospital, Delhi; The Gujarat Cancer and Research Institute; BJ Medical College, Ahmedabad; Action Cancer Hospital, Paschim Vihar; prior to his current position. He is a proud alumnus of BJ Medical College, Ahmedabad, Gujarat where he graduated with an MD in Internal Medicine. He conducted his postdoctoral work at The Gujarat Cancer and Research Institute BJ Medical College, Ahmedabad, Gujarat, procuring a DM Superspecialty degree in Medical Oncology. He holds professional memberships at reputed cancer organizations such as ESMO (European society for medical oncology), and other prestigious associations. He has contributed to number of national and international publications and has been part of various clinical trials and scientific projects. He has been awarded with “Utkrisht Sewa Samman” for his contributions towards “No Tobacco Campaign”.

E-mail: akhil.jain@iosplcancer.com