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. |
|
|
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.