Table 1 NCCN coded criteria
From: Evaluation and comparison of hereditary Cancer guidelines in the population
Code | Criteria | Totals |
|---|---|---|
Gene Mutation (CRIT1, CRIT4) | 156 | |
CRIT1.01 | Individuals with any blood relative with a known pathogenic/likely pathogenic variant in a cancer susceptibility gene | 156 |
CRIT4.01 | Individual from a family with a known TP53 pathogenic/likely pathogenic variant | 15 |
Breast, Ovarian and Pancreatic (CRIT1) | 202 | |
CRIT1.02 | Breast cancer dx at age ≤ 45 | 70 |
CRIT1.06 | Breast cancer dx at age ≤ 60 y with triple-negative breast cancer | 17 |
CRIT1.04 | Breast cancer dx at age 46-50y with a second breast cancer dx at any age | 1 |
CRIT1.07 | Breast cancer dx at any age with Ashkenazi Jewish ancestry | 7 |
CRIT1.08 | Breast cancer dx at any age with ≥1 close blood relative with breast cancer at age ≤ 50 y or ovarian pancreatic or metastatic or intraductal prostate cancer at any age | 49 |
CRIT1.09 | ≥3 total diagnoses of breast cancer in patient and/or close blood relatives | 72 |
CRIT1.05 | Breast cancer dx at age 46-50y with ≥1 close blood relative with breast, ovarian, pancreatic, or high-grade (Gleason score ≥ 7) or intraductal prostate cancer at any age | 17 |
CRIT1.10 | Diagnosed at any age with male breast cancer | 1 |
CRIT1.11 | Epithelial ovarian cancer (including fallopian tube cancer or peritoneal cancer) at any age | 38 |
CRIT1.14 | High-grade (Gleason score ≥ 7) prostate cancer with Ashkenazi Jewish ancestry | 2 |
Li-Fraumeni Syndrome (CRIT4) | 47 | |
CRIT4.02 | Individual diagnosed at age < 45 y with Non Ewing Sarcoma AND a first degree relative diagnosed at age < 45 y with cancer AND an additional first- or second-degree relative in the same lineage with cancer diagnosed at age < 45 yor a sarcoma at any age | 2 |
CRIT4.03 | Individual with a tumor from LFS tumor spectrum (eg soft tissue sarcoma, osteosarcoma, CNS tumor, breast cancer, adrenocortical carcinoma) before 46 y of age AND at least one first- or second-degree relative with any of the aforementioned cancers (other than breast cancer if the proband has breast cancer) before the age of 56 y or with multiple primaries at any age | 34 |
CRIT4.04 | Individual with multiple tumors (except multiple breast tumors)two of which belong to LFS tumor spectrum with the initial cancer occurring before the age of 46 y | 9 |
CRIT4.05 | Individual with adrenocortical carcinoma or choroid plexus carcinoma or rhabdomyosarcoma of embryonal anaplastic subtype at any age of onset regardless of family history | 1 |
CRIT4.06 | Breast cancer before 31 y of age | 10 |
Colorectal and Endometrial (HRS3) | 563 | |
HRS3.02 | Colorectal or endometrial cancer diagnosed < 50 y | 59 |
HRS3.04 | An individual with colorectal or endometrial cancer and ≥ 1 first-degree or second-degree relative with LS-related cancer diagnosed < 50 y | 17 |
HRS3.07 | ≥1 first-degree relative with colorectal or endometrial cancer and another synchronous or metachronous LS-related cancer | 90 |
HRS3.08 | ≥2 first-degree or second-degree relatives with LS-related cancers including ≥1 diagnosed < 50 y | 296 |
HRS3.09 | ≥3 first-degree or second-degree relatives with LS-related cancers regardless of age | 160 |
HRS3.03 | An individual with colorectal or endometrial cancer and another synchronous or metachronous LS-related cancer | 6 |
HRS3.05 | An individual with colorectal or endometrial cancer and ≥ 2 first-degree or second-degree relative with LS-related cancers regardless of age | 10 |
HRS3.06 | ≥1 first-degree relative with colorectal or endometrial cancer diagnosed < 50 y | 174 |
Relative meets criteria (CRIT1) | 1662 | |
CRIT1.17 | An affected or unaffected individual with a first- or second-degree blood relative meeting any of the NCCN Genetic/Familial High-Risk Assessment: Breast Ovarian and Pancreatic personal risk criteria from CRIT-1 | 1662 |
NCCN testing (LS1, POLYP1, GENE1) | 1957 | |
LS1.02 | Meets HRS-3 criteria but no known pathogenic/likely pathogenic variant in proband or family | 562 |
POLYP1.03 | No known pathogenic variants in any polyposis gene in family and meets POLYP1.01 criteria | 47 |
GENE1.01 | Meets NCCN Genetic/Familial High-Risk Assessment: Breast Ovarian and Pancreatic criteria from CRIT-1, CRIT-2, CRIT-4, or CRIT-5 and familial pathogenic/likely pathogenic variant known | 96 |
GENE1.02 | Meets NCCN Genetic/Familial High-Risk Assessment: Breast Ovarian and Pancreatic criteria from CRIT-1, CRIT-2, CRIT-4, or CRIT-5 but no known familial pathogenic/likely pathogenic variant | 1606 |