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Mr Parijat Bhattacharjee, Private Consultant Gynaecologist, Harrow, Brentford, Northwood, London, UK / Media / Videos » Ovarian cancer, Heredity & Genetics explained by Dr. Parijat Bhattacharjee

Ovarian cancer, Heredity & Genetics explained by Dr. Parijat Bhattacharjee

Ovarian cancer, Heredity & Genetics explained by Dr. Parijat Bhattacharjee
Posted on: 03-Jul-2026

This video, titled "Ovarian cancer, Heredity & Genetics explained by Dr. Parijat Bhattacharjee" by Gynae Consultant, provides a comprehensive overview of how genetic mutations influence the risk of ovarian and associated cancers, alongside the clinical options available for high-risk families.

Introduction to Genetics and Cancer

  • Gene Mutations: Genes act as chemical instructions made of DNA, determining how cells grow and function. While random mutations happen naturally all the time, only specific mutations can be passed down to become hereditary (familial) risks.
  • Testing Criteria: Approximately 90% of ovarian cancers fall under the "non-mucinous" category. In the UK, medical guidelines dictate that all women diagnosed with a non-mucinous ovarian cancer should be offered genetic screening.

High-Risk Genetic Mutations

BRCA1 and BRCA2 Mutations

Abbreviated from "BReast CANcer," these mutations significantly raise the lifetime risk of several malignancies compared to a baseline general population risk of only 2%:

  • BRCA1: Carries a 30% to 50% lifetime risk of developing ovarian cancer.
  • BRCA2: Carries a 10% to 25% lifetime risk of developing ovarian cancer.
  • Associated Risks: Both genes spike breast cancer risks in men and women, elevate prostate cancer risks in men, and slightly increase pancreatic cancer risks (especially with BRCA2).
  • Note: Certain demographics, such as the Ashkenazi Jewish community, face a tenfold higher rate of inheriting these mutations.

Other Genetic Syndromes

  • Lynch Syndrome (HNPCC): Caused by mutations in genes like MSH2, MSH6, MLH1, or PMS2. Beyond a primary risk for bowel cancer, it carries a 9% to 12% lifetime risk for ovarian cancer, alongside elevated risks for endometrial, stomach, liver, kidney, bladder, skin, and brain cancers.
  • RAD51C and RAD51D: Rare mutations that raise lifetime ovarian cancer risk to roughly 10%.
  • Peutz-Jeghers Syndrome (STK11): An exceptionally rare condition (1 in 100,000 individuals) that presents an 18% risk of gynecological malignancy by age 80, most commonly causing ovarian sex cord-stromal tumors.
  • BRIP1: Another rare gene mutation associated with hereditary ovarian cancer.

Clinical Genetic Testing

The evaluation is coordinated by clinical geneticists through a simple blood test. Results take 6 to 10 weeks and fall into three categories:

  • Mutation Positive: Confirms a high-risk hereditary gene. Predictive testing is subsequently offered to any family members over the age of 18.
  • Mutation Negative: No high-risk hereditary variant found.
  • Variant of Unknown Significance (VUS): The test is inconclusive because the identified genetic variation lacks sufficient clinical data to confirm if it causes cancer.

Risk Reduction and Management Strategies

Surveillance and Prevention

  • Breast Screening: While average-risk women in the UK receive routine mammograms every three years between ages 50 and 70, high-risk BRCA carriers are bumped up to an intensive annual schedule (comprising both MRIs and mammograms) starting at age 30.
  • Prophylactic Surgery: Women can opt for a preventive bilateral mastectomy to remove breast tissue, or a bilateral prophylactic salpingo-oophorectomy (laparoscopic removal of the fallopian tubes and ovaries). Performing an oophorectomy before menopause yields the most profound protective benefit.
  • Chemoprevention: Medications like Tamoxifen or Raloxifene can be prescribed to lower breast cancer risks.
  • Oral Contraceptives: Utilizing a combined contraceptive pill for more than five years reduces the risk of non-mucinous ovarian cancer by 50%. While it marginally increases breast cancer risk during use, this risk fully returns to baseline within five years of stopping the pill.

Post-Surgery and Family Planning Considerations

  • Surgical Menopause: Immediate removal of the ovaries induces surgical menopause. Managing symptoms via Hormone Replacement Therapy (HRT) requires specialized counsel, as HRT can slightly elevate breast cancer risks.
  • Family Planning Alternatives: Because these genetic mutations carry a 50% (1-in-2) chance of being passed down to offspring, affected individuals may explore alternative options. These include adoption, donor eggs/sperm, or undergoing IVF paired with pre-implantation genetic testing (PGT) to select embryos free from the mutation before uterine transfer.