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Genetic Counselling and Testing for Breast Cancer

According to ICMR, 1 in 9 women in India is at risk of developing breast cancer. Breast cancer can be prevented through early screening like self-breast examination, mammography and genetic testing. With rapid advancements in medical genomics, genetic testing aids in the early diagnosis and prevention of breast cancer.

Breast Cancer

Approximately 10% of all breast cancers have a significant hereditary component, which is usually caused by two mutations in the BRCA-1 and BRCA-2 genes. Genetic testing is a powerful tool that allows for the detection of BRCA and non-BRCA germline mutations.

70% to 80% of women who carry these mutations have a lifetime risk of developing breast cancer. If a woman has a first-degree relative (mother, sister, or daughter) who has breast cancer, her risk of developing breast cancer doubles.

Genetic Counselling

Genetic counselling is recommended for those who have a strong family history of breast cancer or if the people in the family have suffered from different types of cancer. It provides information on whether you have an increased risk for breast cancer because of your family history and whether the breast, ovarian, or other cancers that run in your family are caused due to mutations in genes other than BRCA1 and BRCA2. The genetic counsellor will collect your personal and family medical history to determine the probability that you will inherit cancer, how beneficial genetic testing would be to you and your family, recommend appropriate genetic tests and discuss the medical implications of the results.

Genetic Testing

Genetic testing involves a blood test that looks for changes in BRCA 1 and 2 mutations. The results of a genetic test can help determine the likelihood of developing or passing on certain inherited forms of breast cancer. It can also help doctors make medical recommendations for breast cancer prevention, detection, and treatment.

If the patient is tested positive for BRCA 1/2 or any other genetic mutation in the test panel, the patient is further counselled regarding surveillance or risk-reducing options. Surveillance involves keeping close follow-ups with the patient to detect early signs of breast cancer. The risk of developing breast cancer is determined with the help of a breast MRI, mammogram or Clinical Breast Examination (CBE).

Based on the gene type that tested positive, risk-reducing options are discussed with the patient; these include risk-reducing mastectomy and educating or examining for the risk of other possible cancers.

When is a Genetic Test recommended?

The need for a genetic test is decided by the genetic counsellor or an oncologist after a thorough examination of the patient’s medical history and patient counselling.

Decision Criteria include:

When an individual has a family history or a personal history of a known BRCA1/BRCA2 mutation
If an individual has multiple cancers in the family or has limited information on the family history
Ovarian or peritoneal cancer in the family

Cancer is Curable – If Detected Early!

Early detection and treatment of breast cancer can increase the chances of 5-year survival to 98%.4– early breast cancer screening includes: Self-breast examination, Clinical Breast Examination (CBE), Annual Screening Mammography and Genetic Tests. I have initiated #PinkSelfCheckChain to bring awareness among women about the importance of self-breast examination and walking ahead towards early diagnosis of breast cancer. You may visit https://www.drpragnya.com/home/pink-self-check-chain/ and take the oath today and be part of our ongoing campaign – “I Do! Do You?”.