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. Author manuscript; available in PMC: 2013 Jun 26.
Published in final edited form as: Cancer Control. 2009 Jan;16(1):14–22. doi: 10.1177/107327480901600103

Table 2. Society of Gynecologic Oncologists: Guidelines for Genetic Risk Assessment for Lynch Syndrome.

Patients with greater than approximately 20%–25% chance of having an inherited predisposition to endometrial, colorectal, and related cancers and for whom genetic risk assessment is RECOMMENDED: Patients with greater than approximately 5%–10% chance of having an inherited predisposition to endometrial, colorectal and related cancers and for whom genetic risk assessment may be HELPFUL:
Patients with endometrial or colorectal cancer who meet the revised Amsterdam criteria.12 Patients with endometrial or colorectal cancer diagnosed < age 50.
  • At least 3 relatives with a Lynch/HNPCC-associated cancer (colorectal cancer, cancer of the endometrium, small bowel, ureter, or renal pelvis) in one lineage.

  • One affected individual should be a first-degree relative of the other two.

  • At least 2 successive generations should be affected.

  • At least 1 HNPCC-associated cancer should be diagnosed < age 50.

Patients with synchronous or metachronous endometrial and colorectal cancer with the first cancer diagnosed < age 50 Patients with endometrial or ovarian cancer with a synchronous or metachronous colon or other Lynch/HNPCC-associated tumor* at any age.
Patients with synchronous or metachronous ovarian and colorectal cancer with the first cancer diagnosed < age 50. Patients with colorectal or endometrial cancer diagnosed at any age with two or more first- or second-degree relatives with Lynch/HNPCC-associated tumors,* regardless of age.
Patients with colorectal or endometrial cancer with evidence of a mismatch repair defect (ie, MSI or IHC loss of expression of MLH1, MSH2, MSH6 or PMS2). Patients with a first- or second-degree relative that meets the above criteria.
Patients with a first- or second-degree relative with a known mismatch repair gene mutation.
*

These tumors include colorectal, endometrial, stomach, ovarian, pancreas, ureter and renal pelvis, biliary tract, and brain (glioblastoma in Turcot syndrome), sebaceous gland adenomas, and keratoacanthomas in Muir-Torre syndrome and carcinoma of the small bowel. HNPCC = hereditary nonpolyposis colorectal cancer. Adapted from Lancaster JM, Powell CB, Kauff ND, et al. Society of Gynecologic Oncologists Education Committee statement on risk assessment for inherited gynecologic cancer predispositions.