Table 3 NCCN criteria tested in high risk group events
From: Validation of a digital identification tool for individuals at risk for hereditary cancer syndromes
BRCA-Related NCCN Criteria (V2.2017)a Fulfilled | Affectedg | Unaffectedh | Total Across Events |
(n = 343) | n (% of BRCA met) | N = 382 (%) | |
Individual from a family with a known BRCA1/BRCA2 mutation | 2 (0.58) | 10 (2.92) | 12 (3.14) |
Personal history of breast cancerb and > 1 of the following: | |||
Diagnosed < 45 y | 18 (5.25) | 59 (17.20) | 77 (20.15) |
Diagnosed < 50 y with: | |||
An additional breast cancer primary | 3 (0.87) | 6 (1.75) | 9 (2.36) |
> 1 close blood relativec with breast cancer | 11 (3.21) | 24 (7.00) | 35 (9.16) |
> 1 close blood relative with pancreatic cancer | 1 (0.29) | 1 (0.29) | 2 (0.52) |
> 1 close blood relative with prostate cancer | 3 (0.87) | 2 (0.58) | 5 (1.30) |
An unknown or limited family history | 0 (0) | 0 (0) | 0 (0) |
Diagnosed < 60 with triple negative breast cancer | 2 (0.58) | 3 (0.87) | 5 (1.30) |
Diagnosed at any age with: | |||
> 2 close blood relatives with breast cancer, pancreatic cancer, or prostate cancer at any age | 12 (3.50) | 34 (9.91) | 46 (12.04) |
> 1 close blood relative with breast cancer diagnosed < 50 y | 3 (0.87) | 3 (0.87) | 6 (1.57) |
> 1 close blood relative with ovarian carcinoma | 7 (2.04) | 23 (6.71) | 30 (7.85) |
A close male blood relative with breast cancer | 0 (0) | 1 (0.29) | 1 (0.26) |
Individual of ethnicity associated with higher mutation frequency (e.g., Ashkenazi Jewish) no additional family history may be required | 3 (0.87) | 9 (2.62) | 12 (3.14) |
Personal history of ovariand cancer | 5 (1.46) | 75 (21.87) | 80 (20.94) |
Personal history of male breast cancer | 0 (0) | 1 (0) | 1 (0.26) |
Personal history of prostate cancer at any age with > 1 close blood relative with ovarian carcinoma at any age or breast cancer < 50 y or two relatives with breast, pancreatic, or prostate cancer at any age | 0 (0) | 8 (2.33) | 8 (2.09) |
Personal history of pancreatic cancer at any age with > 1 close blood relative with ovarian carcinoma at any age or breast cancer < 50 y or two relatives with breast, pancreatic, or prostate cancer at any age | 0 (0) | 11 (3.21) | 11 (2.87) |
Family history only: | |||
First- or second- degree blood relative meeting any of the above criteria (ftotaled, individual criterion fulfilled designated above) | N/A | 271 (79.00) | 271 (79.00) |
Third-degree relative who has breast cancer and/or ovarian carcinoma and who has > 2 close blood relatives with breast cancer (at least one with breast cancer < 50 y) and/or ovarian carcinoma | N/A | 2 (0.58) | 2 (0.52) |
Total BRCA-related Criterion | 70 (20.40) | 273 (79.59) | 343 (89.79) |
Lynch Syndrome (LS) NCCN Criteria (V2.2017)f Fulfilled | Affected | Unaffected | Total Across Events |
(n = 39) | n (% of LS Criteria met) | N = 382 (%) | |
Known Lynch syndrome mutation in the family | 0 (0) | 1 (2.56) | 1 (0.26) |
Family history of > 1 first-degree relative with colorectal or endometrial cancer diagnosed < 50 y | 2 (5.19) | 5 (12.82) | 7 (.83). |
Family history of > 1 first-degree relative diagnosed with colorectal or endometrial cancer and another synchronous or metachronous LS-relatede cancer | 0 (0) | 0 (0) | 0 (0) |
Family history of > 2 first-degree or second-degree relatives with LS-related cancer, including one diagnosed < 50 y | 2 (5.13) | 15 (38.46) | 17 (4.45) |
Family history of > 3 first-degree or second-degree relatives with LS-related cancer, regardless of age | 0 (0) | 11 (28.21) | 11 (2.88) |
Family meets Amsterdam II Criteria | 0 (0) | 3 (3.79) | 3 (0.78) |
Total LS-related Criterion | 4 (10.23) | 35 (89.74) | 39 (10.21) |
Total across all criteria (N = 382) | 74 (19.37) | 308 (80.63) | 382 (100.00) |