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Why BRCA gene testing is important for reducing cancer risk in women

Shreekant Sambrani writes: While these mutations are primarily associated with breast and ovarian cancer, there is some evidence of their role in other cancers.

Written by SHREEKANT SAMBRANI |
Updated: November 17, 2021 7:20:00 am
BRCA 1 and an unrelated BRCA 2 are proteins associated with breast tissues which help repair damaged DNA or destroy cells if the damaged DNA cannot be repaired.

In July 1946, Shanti Chand and Vimla Bhandari of Kolkata were blessed with a daughter. She was named Rita, after the Hollywood star Rita Hayworth. The glamour queen of the 1940s became, perhaps, the best-known case of the early onset of Alzheimer’s disease, thanks to the relentless information campaign waged by her daughter Yasmin Aly Khan. But little Rita Bhandari, who grew up to be a beautiful, vivacious and articulate woman, died in my arms of ovarian cancer at 75. She shared not the fate of her namesake but the genetic misfortune of another Hollywood icon, Angelina Jolie. They were both prime candidates for breast or ovarian cancer because of their maternal lineage.

Jolie’s mother, Marcheline Bertrandt, a small-time French actress, died of breast and ovarian cancer. Jolie learnt that she had an 87 per cent chance of suffering from breast cancer. In 2013, at the height of her career, she had both her breasts removed surgically (she has since replaced them with implants). Jolie’s chance of getting breast cancer reduced to 5 per cent. Two years later, after her annual check-up, she learnt that she had a 50 per cent chance of getting ovarian cancer. She underwent surgery for the removal of her ovaries and fallopian tubes. She suffered early menopause, but publicly announced that she felt no less a woman. She has since then written about her condition and her brave decisions in the hope that other women would benefit from this information.

We were aware of Jolie’s decisions but had little access to her writings. Rita’s family had been especially targeted by the emperor of maladies. Her mother died of brain cancer and her sister of Hodgkin’s lymphoma, cancer of the lymph nodes. But more importantly, her maternal grandmother, two aunts and two cousins had all died of breast or ovarian cancer. We shared this history with Rita’s consulting oncologist at the very first meeting.

The oncologist was quite well-read. She ordered BRCA and BRCA 1 mutation tests immediately. The results came three weeks later and indicated that Rita had an extremely high chance of getting ovarian cancer. It was too late, of course, as the disease had reached an advanced stage.

Since then, I have spent countless hours trying to read and understand as much as possible about the disease, its causes, consequences and the treatment. I had known the history; I had some little inkling of BRCA, could I not have prevailed on Rita to undergo a BRCA mutation test earlier, and followed up on it? That remorse is of little use now.

I have distilled below in a few paragraphs what I have learnt about the dreaded mutation. I want to share it widely in the hope that for at least some it may not be too late.

BRCA 1 and an unrelated BRCA 2 are proteins associated with breast tissues which help repair damaged DNA or destroy cells if the damaged DNA cannot be repaired. They are thus tumour suppressor or caretaker genes. But if BRCA itself has undergone a mutation, it loses the ability to repair DNA. This increases the susceptibility of the carrier of the mutant gene to breast and other cancers, notably ovarian cancer. Women with abnormal BRCA 1 or BRCA 2 genes have up to 80 per cent risk of developing breast cancer by age 90 and women with BRCA 1 mutations have up to 55 per cent risk of developing ovarian cancer.

Scientists had long suspected that some cancers are inherited, especially breast and ovarian cancer. Ashkenazi Jewish females have had a long, reported history (BRCA mutations are sometimes referred to as AJ mutations).

The discovery of BRCA mutations is of recent origin, starting in 1990. Testing for BRCA mutations became possible in 1994. Therefore, literature on the subject is also of recent origin. While BRCA mutations are primarily associated with breast and ovarian cancer, there is some evidence of their role in other cancers, especially in the abdominal and thoracic cavities. Women linked to the BRCA mutation have considerably elevated risk of pancreatic cancer.

The scientific literature I have perused is chiefly about the mechanics and the biochemistry of the functioning of BRCA mutations and various cancers. I will skip all this and jump straight to what to do if the presence of BRCA mutations is suspected because of family history.

Most importantly, women post-puberty with a strong matrilineal family history of breast/ovarian cancers should get tested for BRCA mutations after consulting their gynaecologists. The following is a what-to-do guide, since I have discovered that many gynaecologists are still finding out about BRCA mutations.

If BRCA mutation is tested positive for breast cancer, regular breast self-examination must start at the age of 18. From the age of 25, clinical examination and risk assessment must be done every six months to a year; as well as an annual mammography. From the age of 30, a woman with BRCA mutation must get an annual breast MRI. In SOS cases, the options include risk reduction through tamofixen (not chemo, but oestrogen) or risk-reducing surgery (mastectomy).

If a woman tests positive for BRCA mutation for ovarian cancer, risk reduction can be through the regular use of oral contraceptives. At the age of 35-40, those who have had children can choose risk reduction through salpingo-oophorectomy (removal of ovaries and the fallopian tube) on an SOS basis. At the age of 30, or earlier, based on family history of early onset of the disease, they can consider transvaginal ultrasound and CA-125 blood tests.

I will feel that I have discharged my obligation to my Rita if even one woman benefits from reading this.

This column first appeared in the print edition on November 16, 2021 under the title ‘Surviving the BRCA mutation’. The writer taught at IIM, Ahmedabad and was the founder-director of the Institute of Rural Management, Anand

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