Risk assessment criteria
| Patterns of cancer cases must all be on the maternal or paternal side of the family. Affected spouses do not count as two separate cases on the same side of the family because they are not genetically related. | |
| If the family history collection tool obtains ages in decades (20–29, 30–39), age is approximated to the earliest age possible (for example, a relative diagnosed in their 40s should be considered 40, and so on). | |
| *Colorectal, endometrial, stomach, ovary, small bowel, pancreas, ureter, or renal pelvis (as ureter and renal pelvis are too specialised to include on general screening questionnaires, “kidney” can be accepted in lieu of these subtypes. | |
| CRC, colorectal cancer; FDR, first degree relative; HNPCC, hereditary non-polyposis colon cancer; MEN, multiple endocrine neoplasia; PC, polyposis coli; SDR, second degree relative; y, year | |
| BREAST-OVARIAN Non-Jewish families | |
| High risk breast-ovarian | Any of the following: |
| 1 case of breast cancer ⩽40 y 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 y or is bilateral | |
| 1 FDR or SDR with breast cancer diagnosed at ⩽50 y 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 breast | Any of the following: |
| 2 FDRs if both diagnosed between 51 and 60 y | |
| 1 FDR and SDR (mother or sister and maternal aunt or maternal grandmother), if sum of their ages is ⩽118 y | |
| Moderate risk ovarian | 1 FDR with ovarian cancer |
| BREAST-OVARIAN Jewish families | |
| High risk breast-ovarian | Any of the following: |
| ⩾1 case of breast cancer ⩽50 y 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 HNPCC | Any 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 y | |
| Moderate risk colon | 1 FDR with CRC ⩾50 and one SDR with CRC at any age |
| 2 FDRs with CRC ⩾50 at any age | |
| POLYPOSIS | |
| Polyposis | Any FDR or SDR with >10 polyps |
| PROSTATE | |
| High risk prostate | Any of the following: |
| 3 relatives affected, any age | |
| 2 relatives affected (2 FDRs or 1 FDR and 1 SDR), one diagnosed at <60 y | |
| Moderate risk prostate | Any of the following: |
| 1 FDR diagnosed at <60 y | |
| 2 FDRs with PC diagnosed at >60 y | |
| 1 FDR and one SDR with PC diagnosed at >60 y | |
| MELANOMA | |
| High risk melanoma | 3 FDRs or SDRs affected with melanoma and or pancreatic cancer, at least two 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-Fraumeni | All of the following: |
| 1 FDR or SDR with sarcoma, brain, or adrenal cancer diagnosed at <45 y; and | |
| 1 FDR or SDR with sarcoma, breast, brain, adrenal or leukaemia at any age; and | |
| 1 FDR or SDR with any cancer diagnosed at <60 y | |
| MULTIPLE ENDOCRINE NEOPLASIAS/THYROID CANCER | |
| High risk MEN 1 | 2 cases of pancreatic (islet cell) cancer, parathyroid (hyperplasia) and/or pituitary adenoma in FDRs or SDRs (can be same person) |
| High risk thyroid/MEN 2 | Any 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 thyroid | 1 FDR with thyroid cancer |
| FAMILIAL AGGREGATION OF OTHER CANCERS | |
| High risk cluster | Any of the following: |
| 3 cases of the following cancers in one genetic lineage: bladder, brain, endometrial, oesophageal, kidney, lung, mouth or throat, multiple myeloma, pancreatic, sarcoma, stomach, other skin cancers, testicular, haematological malignancies (in FDRs or SDRs) | |
| SINGLE CASES OF CANCER REQUIRING CANCER GENETICS CONSULTATION | |
| A single case of: | Medullary thyroid cancer, adrenocortical carcinoma, phaeochromocytoma, paraganglioma, Wilms’ tumour, or retinoblastoma |