Table 1.

Risk Assessment Criteria5

BREAST-OVARIAN
Non-Jewish familiesAny of the following:
    High-risk breast-ovarian1 case of breast cancer <40 years in an FDR* or SDR
1 FDR or SDR with both breast and ovarian cancer, at any age
>2 cases of breast cancer in FDRs or SDRs if one is diagnosed at <50 years or is bilateral
1 FDR or SDR with breast cancer diagnosed at <50 years or bilateral and 1 FDR or SDR with ovarian cancer
3 cases of breast and ovarian cancer (at least one case of ovarian cancer) in FDRs and SDRs
2 cases of ovarian cancer in FDRs and SDRs
1 case of male breast cancer in an FDR or SDR if another FDR or SDR has (male or female) breast or ovarian cancer
    Moderate-risk breastAny of the following:
2 FDRs if both diagnosed between 51 and 60 years
1 FDR and SDR (mother or sister and maternal aunt or maternal grandmother), if sum of their ages is <118 years
    Moderate-risk ovarian1 FDR with ovarian cancer
Jewish familiesAny of the following:
    High-risk breast-ovarian>1 case of breast cancer <50 years in an FDR or SDR
>1 case of ovarian cancer at any age in an FDR or SDR
>1 FDR or SDR with breast cancer at any age if another FDR or SDR has breast and/or ovarian cancer at any age
>1 case of male breast cancer in an FDR or SDR
COLON
    High-risk HNPCCAny of the following:
3 FDRs or SDRs affected with any HNPCC-associated cancers†; all cases can occur in one generation, no age restriction
1 FDR or SDR with two or more HNPCC-associated cancers†
1 FDR with CRC <50 years
    Moderate-risk colon1 FDR with CRC >50 years and one SDR with CRC at any age
2 FDRs with CRC >50 at any age
POLYPOSISAny FDR or SDR with >10 polyps
PROSTATE
    High-risk prostateAny of the following:
3 relatives affected, any age
2 relatives affected (2 FDRs or 1 FDR and 1 SDR), one diagnosed at <60 years
    Moderate-risk prostateAny of the following:
1 FDR diagnosed at <60 years
2 FDRs with PC diagnosed at >60 years
1 FDR and one SDR with PC diagnosed at >60 years
MELANOMA
    High risk melanoma3 FDRs or SDRs affected with melanoma and or pancreatic cancer, at least 2 generations (must include more than one case of melanoma) 1 FDR or SDR with multiple primary melanomas
    Moderate-risk melanoma>1 FDR with melanoma
LI-FRAUMENI SYNDROME
    High-risk Li-FraumeniAll of the following:
1 FDR or SDR with sarcoma, brain, or adrenal cancer diagnosed at <45 years;
And
1 FDR or SDR with sarcoma, breast, brain, adrenal or leukemia at any age;
And
1 FDR or SDR with any cancer diagnosed at <60 years
MULTIPLE ENDOCRINE NEOPLASIAS/THYROID CANCER
    High-risk MEN 12 cases of pancreatic (islet cell) cancer, parathyroid (hyperplasia), and/or pituitary adenoma in FDRs or SDRs (can be same person)
    High-risk thyroid/MEN 2Any of the following:
2 cases of thyroid cancer in FDRs or SDRs
1 FDR or SDR with thyroid cancer and 1 FDR or SDR with parathyroid (hyperplasia) or adrenal cancer (can be same person)
    Moderate-risk thyroid1 FDR with thyroid cancer
FAMILIAL AGGREGATION OF OTHER CANCERS
    High-risk clusterAny of the following:
3 cases of the following cancers in one genetic lineage: bladder, brain, endometrial, esophageal, kidney, lung, mouth, or throat; multiple myeloma, pancreatic, sarcoma, stomach, or other skin cancers, testicular, hematological malignancies ( in FDRs or SDRs)
SINGLE CASES OF CANCER REQUIRING CANCER GENETICS CONSULTATION
    A single case of:Medullary thyroid cancer, adrenocortical carcinoma, pheochromocytoma, paraganglioma, Wilms’ tumor, or retinoblastoma

  • * FDR, first degree relative; CRC, colorectal cancer; HNPCC, hereditary non-polyposis colon cancer; MEN, multiple endocrine neoplasia; PC, prostate cancer; SDR, second degree relative.

  • † HNPCC-associated cancers. Colorectal, endometrial, stomach, ovary, small bowel, pancreas, ureter, or renal pelvis (as ureter and renal pelvis are too specialized to include on general screening questionnaire, ′kidney′ can be accepted in lieu of these subtypes).