BRCA1 and BRCA2: Potential Hereditary Breast Cancer Genes

Yes, the most common cause of potential hereditary breast cancer is a mutation of the BRCA1 and BRCA2 genes. It is observed that these mutations can be inherited copies of either gene from a parent, and the individual is in the zone of a higher risk for breast cancer. In the physiological process, the mentioned BRCA1 AND BRCA2 genes make proteins to check and repair DNA. But on another side of the abnormal point when genes are mutated, can pose an abnormal cell growth or cancer.

Incidence of BRCA mutation: prevalence of pathogenic BRCA1 and BRCA2 variants has been reported- approximately 1 in 400 individuals in the general population. All individuals have BRCA1 and BRCA2 genes, but only some carry mutations in those genes. In case, either of the parents has a BRCA1 or BRCA2 gene mutation, offspring have a 50% chance of carrying the gene mutation. In genetic testing, BRCA positive mutation predicts risk of cancer increases and indicates a higher risk of developing breast cancer and ovarian cancer in women and the risk for breast and prostate cancer in men, as well as other cancers. If we are discussing epidemiology, it is a necessity to mention that a hereditary breast cancer accounts for only 5-10 percent of all breast cancers.

It is significant here to mention that females diagnose with either BRCA1 AND BRCA2 gene mutations are more likely to be diagnosed with breast cancer at a younger age. As we race to talk about genetic testing, the younger the age of diagnosis for BRCA positive mutation via genetic testing more appropriate the candidate is for BRCA1/2 pedigree. This pedigree unravels the classic features of the BRCA pathogenic variant across three generations. This will detail the result in organogram depicting/predicting affected family members with breast cancer and young age at onset

Location of BRCA1/2 and association with gender mutations & breast cancer: As per the data, the 17q21.3 region contained the BRCA1 gene and the BRCA2 gene is located on the 13q12.3 regions. Also, another fact as per the observational studies reported is that male breast cancer is unlikely to be directly caused by BRCA1 mutation alone.

BRCA 1/2 and tumorigenesis: recent data indicates that about 55 to 65% of BRCA1 mutation carriers and approximately 45% of BRCA2 mutation carriers develop breast cancer by 6 to 7 decades of life.

BRCA1 and BRCA2 are tumor suppressor genes, responsible to slow down cell division, repair DNA mistakes, or tell cells when to die in the physiological process. But in the mutation of the tumor suppressor gene or anti-oncogene, a loss or reduction in its function is base of tumorigeneses resulting in cancer.

Besides predicting the potential hereditary breast cancer recent ray of hope in breast cancer treatment regimen and follow-up is the role of BRCA mutations on breast cancer prognosis. As per data reported 3.4% BRCA carriers, display a not good overall survival. But collectively independent BRCA mutation is an inadequate outcome predictor.

It is because a clinical diagnosis of hereditary breast cancer also consider one or more of the features are present in family-like early-onset breast cancer, two breast primary or breast, and other related cancer (ovarian, fallopian tube, or primary peritoneal) in a single individual, and then a member of a family with a known BRCA1; etc.. in the recommended guidelines for genetic testing, counselling, and risk assessment. Which will be followed by primary prevention strategies to reduce breast cancer risk.

Breast cancer treatment in cases with BRCA1 or BRCA2 mutations: chemotherapy a conventional tool of treatment in the world of cancer uses Taxanes that are less sensitive to BRCA1 mutation carriers. Also, platinum agents with taxanes in neoadjuvant chemotherapy with enhanced response are predicted in hereditary BRCA1-associated breast cancer.

Targeted drug therapy- PARP inhibitors against BRCA1 or BRCA2 mutated genes are beneficial in the treatment of patients that are carriers of germline BRCA mutations.

The Breast cancer treatment cost in India typically is covered in the range from INR 5 to 6 Lakhs, including radiotherapy, surgery, testing, and targeted therapy spike the range up to 20 Lakh, including six cycles of chemotherapy for cancer treatment, genetic testing, genetic counseling, pedigree chart analysis. (For details please contact us)

Future considerations- In lieu of BRCA mutation will be able to provide valuable insight in terms of prevention and treatment options.