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Hereditary cancer: BRCA and Lynch syndrome
Carrying a BRCA mutation or a Lynch syndrome gene greatly raises cancer risk, so at-risk families are identified, offered genetic counselling and testing, and carriers are given early surveillance and risk-reducing surgery.
Why it matters in the exam
Family medicine papers ask about the position paper on testing for founder mutations in Israel, about the recommendations for a young BRCA2 carrier whose mother had ovarian cancer, and about surveillance in Lynch syndrome. Other questions show a family tree and ask what to recommend.
Know that in the Ashkenazi population about 1 in 40 carries one of three founder mutations, and that ovarian cancer screening with CA-125 and ultrasound does not lower mortality — so carriers are referred for salpingo-oophorectomy.
The family doctor knows the family over generations, so he is in the best position to recognise a pattern of cancer recurring in a family and to refer for genetic counselling in time.
Genetic testing is accompanied by counselling before and after, because the result matters to the whole family and to decisions about childbearing. Further questions deal with a male carrier and the implications for his daughters and sons.
Key points
- BRCA: breast about 70%; ovary about 40% in BRCA1 and about 15% in BRCA2.
- Carriers: breast MRI from 25, mammography from 30, salpingo-oophorectomy at 35–45.
- Lynch: colon and endometrium; colonoscopy every 1–2 years from 20–25.
- About 1 in 40 Ashkenazim carries a founder mutation.
- Ovarian screening with CA-125 and ultrasound is not effective.
Summary table
| Syndrome | Main risk | Surveillance | Prevention |
|---|---|---|---|
| BRCA1 | Breast about 70% lifetime, ovary about 40% | Yearly breast MRI from 25, and from 30 also mammography | Salpingo-oophorectomy at 35–40; consider mastectomy |
| BRCA2 | Breast about 70%, ovary about 15%; men — breast, prostate, pancreas | As for BRCA1 | Salpingo-oophorectomy at 40–45 |
| Lynch syndrome | Colon and endometrium; also ovary, stomach and urinary tract | Colonoscopy every 1–2 years from 20–25 | Aspirin lowers colorectal cancer risk; hysterectomy and oophorectomy after childbearing |
| When to refer for genetic counselling | Breast cancer under 50, ovarian cancer at any age, male breast cancer, several affected relatives, Ashkenazi origin with breast, ovarian or pancreatic cancer | — | Counselling before and after the test |
| Founder mutations in Israel | Two in BRCA1 and one in BRCA2 | Testing for women of Ashkenazi origin according to the position paper and the health basket | Carriers about 1 in 40 among Ashkenazim |
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Sources
- NCCN Clinical Practice Guidelines, 2025 — Genetic/familial high-risk assessment: breast, ovarian, pancreatic and prostate; colorectal, endometrial and gastric
- Israel Medical Association / Israel Ministry of Health, current — Position paper on testing for common BRCA1/2 founder mutations in the Israeli population
- Kuchenbaecker KB et al., JAMA, 2017 — Risks of breast, ovarian and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers
Sources are given for further reading; the text is written afresh and not copied from them.
Reviewed by the Examqo AI Professor · 2026-11-06. The text may contain errors; when in doubt, check the source.