Verma Amit, Nag Shona, Hasan Qurratulain, Selvakumar Veda Padma Priya
Molecular Oncology and Cancer Genetics, Max Hospital, Shalimar Bagh, New Delhi, India.
Director, Medical oncology, Sahyadri Hospitals, Pune, Maharshtra, India.
Indian J Cancer. 2019 Nov;56(Supplement):S38-S47. doi: 10.4103/ijc.IJC_458_19.
BReastCAncer (BRCA) susceptibility genes BRCA1 and BRCA2 are mainly associated with hereditary breast and ovarian cancer (HBOC) syndrome and present an estimated 45%-65% cumulative lifetime risk of developing breast cancer and an 11%-39% risk of ovarian cancer. HBOC is also linked to triple-negative breast cancer (TNBC). BRCA1 mutations in TNBC are observed in 36% of women age <40 years and 27% of women age <50 years. In India, the prevalence of BRCA1/2 mutation varies from 2.9% to 38% among families with genetic predisposition toward hereditary cancers. With HBOC being linked to early-onset breast cancer and increased susceptibility to other cancers, early screening for BRCA mutations has become a pressing need. Though genetic counseling (GC) for BRCA mutation testing is common in most of the developed countries, India still faces several challenges in mainstreaming the same. Many barriers to effective GC for BRCA testing are unique to India. There is a dearth of trained geneticists which puts the pressure on oncologists to give GC for which they neither have the time or training. Presence of multiethnic/linguistic population acts as a major hindrance along the way toward development of robust predictive and effective GC models for BRCA testing. The current review discusses the need and benefits of GC in breast cancer prevention, through BRCA testing, from an Indian perspective. The functional framework of GC and the role of genetic counselors are discussed in detail. In addition, importance of GC training and role of a multidisciplinary team approach for mainstreaming pre- and post-BRCA test GC is highlighted.
乳腺癌（BRCA）易感基因BRCA1和BRCA2主要与遗传性乳腺癌和卵巢癌（HBOC）综合征相关，估计一生中患乳腺癌的累积风险为45%-65%，患卵巢癌的风险为11%-39%。HBOC还与三阴性乳腺癌（TNBC）有关。在年龄小于40岁的女性中，36%的TNBC患者存在BRCA1突变；在年龄小于50岁的女性中，这一比例为27%。在印度，有遗传易感性的遗传性癌症家族中，BRCA1/2突变的患病率在2.9%至38%之间。由于HBOC与早发性乳腺癌以及对其他癌症易感性增加有关，因此对BRCA突变进行早期筛查已成为迫切需求。尽管在大多数发达国家，针对BRCA突变检测的遗传咨询（GC）很常见，但印度在将其纳入主流方面仍面临诸多挑战。许多影响BRCA检测有效遗传咨询的障碍是印度所特有的。缺乏训练有素的遗传学家，这使得肿瘤学家承担起提供遗传咨询的压力，而他们既没有时间也没有相关培训。多民族/多语言人群的存在是开发强大的BRCA检测预测和有效遗传咨询模型过程中的一个主要障碍。本综述从印度的角度讨论了通过BRCA检测进行遗传咨询在乳腺癌预防中的必要性和益处。详细讨论了遗传咨询的功能框架以及遗传咨询师的作用。此外，还强调了遗传咨询培训的重要性以及多学科团队方法在将BRCA检测前和检测后的遗传咨询纳入主流方面的作用。
