Cancer is curable if detected early. However, prevention is always better than early detection of the disease. Some cancers run in families and have a genetic trait. At least 5 to 10 per cent of all cancers have inherited gene variants.

Prevention of familial cancers may require the removal of normal organs that have a high risk of developing cancer in future. The decision is difficult. Though many cancers are curable, phobia regarding cancer is worldwide. It is not limited by geographical boundaries or nationality. In a study, 41 per cent of people reported cancer as their top health fear. It negatively impacts the quality of life. Sometimes it is more harmful than the disease itself. People are worried about the uncertain future, prolonged treatment and high cost. Chronic illnesses like diabetes or hypertension do not have any such impact.

Hollywood actress Angelina Jolie in a landmark column titled “My medical choice” revealed that she carried a “faulty” gene called BRCA 1. Her doctors estimated that she had an 87 per cent risk of breast cancer and a 50 per cent risk of ovarian cancer in her lifetime. The risk differs with every case. She had lost her mother, aunt and grandmother to cancer.

After discussing with medical experts she decided to remove both breasts and ovaries as that was the best option for her to prevent cancer. After having a double mastectomy her lifetime risk of breast cancer came down to below 5 per cent. Subsequently, she had laparoscopic removal of both ovaries and tubes. She felt no less as a woman or had diminished feminity. Such prophylactic surgery to remove normal organs that have no sign of cancer is challenging. However, this is a viable option for familial cancers.

Genetic testing

Genetic testing is mandatory to establish familial cancers. Some common genetic cancers include breast, ovary, colorectal, prostate and pancreas. A professional genetic counsellor can advise regarding the risk of cancer in the family if genetic mutations are detected.

Usually, a biopsy specimen or blood sample is necessary for conducting these tests. The report should be accurate as a lot depends on the result. All genetic tests are not done in Calcutta and the specimens need to be transported outside Bengal. Also, fully equipped molecular laboratories are not available in most hospitals.

The reports of genetic testing may take a month.

A positive test means there is an increased chance of cancer but does not confirm that cancer will develop. A negative test does not detect a variant that increases cancer risk. It does not mean that cancer will never occur. A genetic counsellor can provide proper guidance.

The benefits of genetic testing are many:

A negative report gives peace of mind and improves mental health.

If the test is positive, preventable action can be taken.

If necessary other family members can be tested.

Family members must be tested if multiple related relatives had cancer or developed cancer at a young age. The cost of genetic testing is high and differs among institutions.

Prophylactic surgery

Surgery to remove any normal organ to prevent cancer is a difficult proposition. It is recommended only if genetic mutations are positive and the risk of cancer is high.

Risk-reducing mastectomy and removal of ovaries in healthy women is an option if the risk of cancer is significant. Many people prefer peace of mind as it reduces the risk of cancer. Removal of breasts can be done by sparing the skin and nipple. Reconstruction with implants is also done. Those who do not prefer prophylactic surgery may opt for strict surveillance for early detection.

Removal of the colon for familial adenomatous polyposis prevents colon cancer. In a familial form of medullary thyroid cancer, the thyroid gland is removed at a young age. Even the stomach must be removed if certain genetic abnormalities are present in the family.

Prophylactic surgery decreases worry regarding cancer but it is irreversible. In Calcutta such surgery for the prevention of cancer is uncommon and not promoted by any hospital. This is surprising.

Mother’s dilemma

Anuradha, 46, (name changed to protect identity) was detected with breast and ovarian cancer in 2021. Her mother had ovarian cancer, her aunt had breast cancer and her grandmother had ovarian cancer.

She and her mother tested positive for the genetic mutation BRCA 1. Anuradha has a 19-year-old daughter who is academically brilliant and has just been admitted to an engineering college. What options does Anuradha have if she, like other women in the family, has the genetic mutation? Should she opt for surveillance to preserve the quality of life or prophylactic surgery to remove the breast and the ovaries?

Also, what should be the optimal age for intervention? It is difficult to decide.

Qualified genetic counsellors with recognised training are not easily available in hospital outdoors. That is unfortunate.