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Hereditary cancer syndromes (BRCA, Lynch)

Syndromata carcinomatis hereditaria · Dědičné nádorové syndromy (BRCA, Lynch)

What it is

An inherited fault in BRCA1/2 or a mismatch-repair gene (Lynch syndrome) that raises the lifetime risk of cancer of the breast, ovary, prostate, pancreas, bowel or womb; half of a carrier's children inherit it.

Symptoms & signs

  • No symptoms until a cancer
  • several relatives with the same cancers
  • cancers at a young age
  • breast cancer in a man
  • bowel and womb cancer in one family

🚩 Get help if…

  • see a doctor soon Breast lump, or a change in breast skin or nipple
  • see a doctor soon Blood in the stool or a change in bowel habit for weeks
  • see a doctor soon Bleeding after menopause or between periods
  • see a doctor soon Bloating, belly swelling or feeling full quickly for weeks

Where it strikes

Medical treatment

  • Genetic counselling and testing
  • yearly MRI and mammography from 30 for BRCA carriers
  • colonoscopy every 1–2 years from 25 for Lynch
  • removal of the ovaries and tubes once children are complete — cuts ovarian cancer by about 80%
  • risk-reducing mastectomy as an option
  • testing of relatives

Natural & lifestyle

  • Know the family history on both sides
  • aspirin for Lynch carriers — fewer bowel cancers in the CAPP2 trial
  • keep to the screening schedule

Emerging & experimental

  • Polygenic risk scores
  • PARP inhibitors for BRCA-related cancers
  • cancer vaccines for Lynch carriers

Alternative, off-label & anecdotal

Approaches used outside the guidelines, with what their supporters report and what testing has found so far.

  • Consumer 'health' DNA kits — test few variants and miss most dangerous BRCA mutations; not a substitute for clinical testing anecdotal / traditional
  • Exercise, a healthy weight and little alcohol — lower breast-cancer risk in carriers in observational studies early / small studies

ICD codes