Table 2.
ACMG coded criteria
| 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 |
These are the criteria included in the hereditary cancer ontology used to evaluate FHx from ACMG that at least one proband met. Each section (Gene Mutation, LFS, Colorectal and Endometrial, Relative meets criteria, and Remaining ACMG) groups related criteria together. For each criterion in a section the total number of probands who met that criteria are recorded. Given that a proband can meet more than one criteria, the section totals are the total number of probands who met at least one criteria from the criteria in that section