(Lynch Syndrome etc) ASCO CPG Endorsement of the Familial Risk–Colorectal Cancer: ESMO CPG

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 Hereditary Colorectal Cancer Syndromes: American Society of Clinical Oncology Clinical Practice Guideline Endorsement of the Familial Risk–Colorectal Cancer: European Society for Medical Oncology Clinical Practice Guidelines

 Lynch syndrome

• Colon and rectum: Colonoscopy every 1 to 2 years, starting at age 20 to 25 or 5 years before the youngest case in the family. No upper limit is established.
• Endometrium and ovary: Gynecological examination, pelvic ultrasound (not CA-125), and aspiration biopsy every year, from age 30 to 35 years. Consider prophylactic hysterectomy and salpingoophorectomy when childbearing is completed.
• Gastric cancer: For gastric cancer, the search for the presence of Helicobacter pylori and subsequent eradication is recommended in mutation carriers. In case of a high incidence of gastric cancer in some populations, some experts recommend upper GI endoscopy every 1 to 3 years.
• Other Lynch-associated cancers: Surveillance is not recommended due to the low sensitivity and specificity. (Although there are insufficient data supporting surveillance for other target organs, it may be considered in the context of family history.)
  
  
  
  
  ....... Unlike CRC, data to support the effectiveness of transvaginal ultrasound and endometrial biopsy for gynecologic surveillance are lacking, and only surgical removal of the uterus and ovaries (fallopian tubes???) has been shown to reduce incidence of endometrial and ovarian cancers.¹⁰ Individuals with LS also have an elevated risk of developing other cancers, specifically tumors of the urinary tract (lifetime risk, 5% to 12%), small intestine, ovary (lifetime risk, 4% to 12%), stomach (lifetime risk, 8% to 10%), pancreas (lifetime risk, 4%), biliary tract, brain, and skin.^11,12 Comparisons of phenotype according to MMR gene mutation have shown that MLH1-mutation carriers tend to develop CRC at younger ages, whereas MSH2 carriers seem to be at higher risk for extracolonic cancers, and for women with MSH6 mutations, the risk for endometrial cancer may surpass the lifetime CRC risk.^13–15 In contrast, the risks for CRC and endometrial cancer seem to be lower among individuals with mutations in PMS2 (15% to 20%) compared with carriers of other MMR gene mutations.^16........