What is Hereditary Breast Cancer? It’s a risk factor you can’t change but can tame

Breast cancer is the most common and the leading cause of disease-related deaths among Indian women. A report from the National Cancer Regry Programme (NCRP, 2020) reveals the highest number of breast cancer cases in Mumbai, Delhi, Chennai, Bengaluru and Thiruvananthapuram dricts. It can affect women of all ages, races and social classes although it is more common in women older than 50 years of age. As far as the staging is concerned, breast cancer is categorised as early breast cancer, locally advanced breast cancer, and advanced breast cancer.
The American Cancer Society recommends that women who are at high risk (have a known BRCA1 or BRCA 2 gene mutation or have a positive family hory of these mutations) of early-onset breast cancer should get a screening mammogram and breast MRI done every year starting at the age of 30 or lesser as recommended their health care provider.
Risk Factors
Various risk factors are associated with the development of breast cancer that includes hereditary, environmental, hormonal, and nutritional influences. The biological risk factors associated with the development of breast cancer include growing older, family hory, mutated genes, early menstruation, late menopause, being taller and so on.
What is Hereditary Breast Cancer?
Hereditary breast cancer accounts for approximately five to ten per cent of the total breast cancer cases. It follows a Mendelian inheritance pattern where offspring inherit certain faulty genes from their parents that put them at an increased risk of developing breast cancer. A woman with a positive family hory has about three times more likelihood of developing the disease than one with no family hory. Having one first-degree relative (mother, daughter, ser) with breast cancer doubles the risk whereas having two first-degree relatives triples the risk of developing breast cancer.
The most common genetic mutations in hereditary breast cancer are BRCA mutations, namely BRCA1 and BRCA2. A BRCA mutated woman has a 50-85 per cent lifetime risk of developing breast cancer and is more likely to be diagnosed at a young age with a higher frequency of triple-negative breast cancer.
Preventive measures
The various preventive measures for hereditary breast cancer include chemoprevention (taking medications to lower the risk of developing breast cancer) and getting risk-reducing surgeries. While the surgical removal of both breasts reduces the risk of developing breast cancer 90 per cent, the same if combined with the removal of ovaries and fallopian tubes, can reduce the risk 95 per cent in BRCA carriers. The adoption of healthy lifestyle choices such as quitting drinking or limiting the consumption of alcohol, regular exercise and maintaining a healthy weight can be a good strategy. Further, clinical breast exams at frequent intervals and yearly screening with breast MRI and mammogram, starting at a younger age, can improve the likelihood of detecting the disease earlier.
Signs and Symptoms
The most common presenting sign and symptom of breast cancer is a lump within the breast. The other local symptoms include pain and enlargement of the breast and nipple discharge. Screening plays a vital role in early diagnosis and more meaningful treatment with a better possibility of cure. Screening mammography reduces the mortality of breast cancer 30 per cent in women older than age 50. The same is now used worldwide in the preoperative assessment and follow-up of patients with breast cancer.
Treatment protocols
Successful treatment of breast cancer requires eliminating all cancer cells, whether at the primary site, extended to loco-regional areas, or metastasis to other regions of the body. Hence, multimodality treatment approaches are adopted involving surgery, radiation therapy, and systemic therapies. The past few decades have witnessed a significant improvement in the survival of women with breast cancer due to the introduction of chemotherapy, endocrine therapy, human epidermal growth factor receptor 2 (HER2) directed therapies and immunotherapy. A novel class of agents – PARP inhibitors – can be used as an alternative to chemotherapy in patients with metastatic HER2-negative breast cancer along with a BRCA1 or BRCA2 gene mutation.
Breast cancer is nothing to be ashamed about or feel embarrassed about; rather, it is a beginning to embrace the pain it takes to fight back. October is breast cancer awareness month and, on this occasion, let’s pledge to quit smoking and consumption of alcohol; go for early and timely screening and adopt effective disease management strategies. taking an active role in treating breast cancer, a woman can improve her chances of survival and a better quality of life.
(The author is MD, FAMS, Padma Shri Awardee and Former Dean {Academics}, AIIMS, New Delhi)