Hereditary Breast Cancer: Who Should Worry?


breastBy Dr. Sandeep Nayak

In May 2013, actress Angelina Jolie ignited an international dialogue on breast cancer risk and genetic testing with an op-ed in the New York Times, in which she described her choice to undergo a preventive double mastectomy after learning she carries a mutation in a gene called BRCA1.

This decision was questioned by many as to whether it was a knee-jerk reaction. Was the surgery justified? Most breast and ovarian cancers are not hereditary. However, some women have a family history of breast cancer, but only a small number of these are due to an inherited gene that increases their risk of cancer.

Genetic Changes: The most common form of hereditary breast and ovarian cancers are due to mutations in the BRCA genes. BRCA1 and BRCA2 are tumour suppressor genes, which are genes that normally prevent cancer from developing. Researchers have identified hundreds of mutations in the BRCA genes. Many of these are linked to an increased chance of developing breast and ovarian cancer. Other rarer hereditary gene mutations are also associated with an increased risk of breast and ovarian cancer, but these are not discussed here.

It’s very important that women speak to their physicians if they have a personal history of breast cancer or close relatives who have had breast, ovarian, or prostate cancer, or some other types of cancer. Other strong risk factors include having had breast cancer at an early age (before age 50), having both breast and ovarian cancer, having a male relative with breast cancer, and being of Eastern European Jewish ancestry. In addition all women with a personal history of ovarian cancer — regardless of their family history — should have BRCA testing.

Risk Reduction: Angelina Jolie had 87% more risk of breast cancer and 50% more risk of ovarian cancer due to her mutations. By undergoing preventive surgery she prevented many problems. Treatment after getting a cancer is more complicated than preventive treatment. Once cancer starts, the treatment would involve surgery, chemotherapy and radiotherapy which have many side effects. The surgery for cancer may not be as cosmetic as a preventive surgery, with the help of plastic surgery it is possible to give normal looks to the breasts after preventive surgery.

Preventive surgery does not need the lymph nodes in the arm pit to be removed. The removal of armpit lymph nodes can lead to swelling of the hands in the long run. These are just some of the problems that she managed to prevent knowing and understanding the very high risk that she had.

Women who know that they have a BRCA gene mutation (they tested positive for a BRCA1 or BRCA2 mutation) or have strong family history of cancer should talk to their doctor about taking steps to help reduce their risk of cancer and to find it early.

To get a better understanding of breast and ovarian cancers, do visit http://macsforcancer.com/index.php/patient-breast-cancer

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