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While lifestyle and environmental factors contribute to cancer risk, family history remains one of the most crucial yet often overlooked determinants
World Cancer Day 2025: Despite the significance of family history in cancer risk, many women remain unaware of its implications.
Gynecological cancers—including ovarian, uterine, cervical, vaginal and vulvar cancers—pose a significant health burden for women. While lifestyle and environmental factors contribute to cancer risk, family history remains one of the most crucial yet often overlooked determinants. Understanding genetic predisposition can help in early detection, preventive strategies and personalized medical interventions. Dr Randeep Singh, Director and Senior Consultant, Medical Oncology, Narayana Hospital Gurugram shares all you need to know:
Understanding Genetic Risk
Family history plays a pivotal role in certain gynecological cancers, particularly ovarian and uterine cancers. Women with first-degree relatives (mother, aunts, sister or daughter) diagnosed with these cancers have a higher likelihood of developing them. This risk amplifies when multiple family members across generations are affected.
Some of the key hereditary conditions linked to gynecological cancers include:
- Hereditary Breast and Ovarian Cancer (HBOC) Syndrome – Mutations in the BRCA1 and BRCA2 genes significantly elevate the risk of ovarian and breast cancers. Women with these mutations may have up to a 44% lifetime risk of developing ovarian cancer.
- Lynch Syndrome – This inherited condition is associated with a higher risk of endometrial (uterine) and ovarian cancers due to mutations in DNA mismatch repair genes (MLH1, MSH2, MSH6, and PMS2). Women with Lynch syndrome have a 40–60% lifetime risk of developing endometrial cancer.
- Peutz-Jeghers Syndrome and Cowden Syndrome – Though rarer, these syndromes are also linked to increased risks of gynaecological and other cancers.Identifying High-Risk IndividualsWomen with a strong family history of gynaecological or related cancers (breast, colon, prostate, or pancreatic) should undergo a comprehensive risk assessment, which may include:
- Genetic Counselling – Genetic counsellors can evaluate personal and family history to assess risk levels and recommend genetic testing, if necessary.
- Genetic Testing – Blood or saliva tests can detect mutations in genes like BRCA1, BRCA2, or mismatch repair genes associated with Lynch syndrome.
Preventive Strategies and Early DetectionFor women identified as high-risk, several preventive measures can help mitigate the chances of developing gynaecological cancers:
- Regular ScreeningWhile routine screening for ovarian cancer is not widely recommended, high-risk women may benefit from transvaginal ultrasounds and CA-125 blood tests. Endometrial biopsy may be advised for those at risk of uterine cancer.
- Risk-Reducing SurgeryWomen with BRCA mutations or Lynch syndrome may consider prophylactic surgeries like risk-reducing salpingo-oophorectomy (removal of ovaries and fallopian tubes) or hysterectomy (removal of uterus).
- Lifestyle ModificationsA healthy diet, regular exercise, maintaining a healthy weight and avoiding tobacco and excessive alcohol can lower overall cancer risk.
- ChemopreventionMedications to stop cancer from occurring, such as oral contraceptives, have been shown to reduce ovarian cancer risk in high-risk women.
The Role of Awareness and EducationDespite the significance of family history in cancer risk, many women remain unaware of its implications. Healthcare providers must actively engage in educating patients about their genetic risk and the available preventive options. Open conversations within families about health history can also empower women to make informed decisions.Family history is a powerful predictor of gynaecological cancer risk. Recognizing genetic predisposition allows for proactive measures, including screening, lifestyle changes, and, in some cases, surgical intervention. Increased awareness and early detection can make a critical difference in improving outcomes and saving lives.
