From: Evaluation and comparison of hereditary Cancer guidelines in the population
Code | Criteria | Totals |
---|---|---|
Gene Mutation | 156 | |
ACMGSyndromePatient | Has known mutation in cancer susceptibility gene | 156 |
Breast and Ovarian | 308 | |
Breast.01 | Breast cancer dx at age ≤ 50 | 90 |
Breast.02 | Triple-negative breast cancer dx at age ≤ 60 | 17 |
Breast.03 | ≥2 primary breast cancers in the same person | 3 |
Breast.04 | Ashkenazi Jewish ancestry and breast cancer at any age | 7 |
Breast.05 | ≥3 cases of breast, ovarian, pancreatic, and/or aggressive prostate cancer in close relatives including the patient | 202 |
Breast.13 | Single case (male breast cancer) present | 1 |
Ovarian.01 | Single case (ovarian, fallopian tube, or primary peritoneal cancer) present in the patient or a FDR | 38 |
Li-Fraumeni Syndrome | 50 | |
Breast.07 | Breast cancer and one additional LFS tumor in the same person or in two relatives one dx at age ≤ 45 | 39 |
Colorectal.07 | Colorectal cancer and one additional LFS tumor in the same person or in two relatives one dx at age ≤ 45 | 11 |
Leukemia.02 | Leukemia and one additional LFS tumor in the same person or in two relatives one dx at age ≤ 45 | 1 |
Brain.03 | Brain tumor and one additional LFS tumor in the same person or in two relatives one dx at age ≤ 45 | 2 |
Colorectal and Endometrial | 65 | |
Colorectal.01 | Colorectal cancer dx at age < 50 | 21 |
Endometrial.01 | Endometrial cancer dx at age < 50 | 39 |
Colorectal.02 | Colorectal cancer dx at age ≥ 50 if there is a FDR with colorectal or endometrial cancer at any age | 4 |
Endometrial.02 | Endometrial cancer dx at age ≥ 50 if there is a FDR with colorectal or endometrial cancer at any age | 1 |
Colorectal.03 | Synchronous or metachronous colorectal or endometrial cancers in the same person | 1 |
Endometrial.03 | Synchronous or metachronous colorectal or endometrial cancer in the same person | 1 |
Colorectal.05 | Colorectal cancer and two additional cases of any LS-associated cancer in the same person or in close relatives | 2 |
Endometrial.05 | Endometrial cancer and 2 additional cases of any LS-associated cancer in the same person or in close relatives | 9 |
Relative meets criteria | 1306 | |
ACMGAtRiskFDRPatient | First degree relative (mother father or sibling) meets risk criteria | 1306 |
Remaining ACMG | 68 | |
Gastric.02 | ≥2 cases of gastric cancer one dx at age < 50 in close relatives | 9 |
Gastric.04 | ≥3 cases of gastric cancer in close relatives | 1 |
Melanoma.02 | ≥3 cases of melanoma and/or pancreatic cancer in close relatives | 3 |
Prostate.02 | ≥2 cases of prostate cancer dx at age ≤ 55 in close relatives | 1 |
Thyroid.01 | Medullary thyroid cancer | 11 |
Thyroid.04 | Papillary thyroid cancer (cribriform-morular variant) | 46 |