Table 2 Application of guidelines to women from the general population
Criteria indicating the important family history of HBOC | NCCN | ACMG/NSGC | SGO | |||
|---|---|---|---|---|---|---|
Details of criteria | Details of criteria | Details of criteria | ||||
N | % | N | % | N | % | |
An individual at any age with a known pathogenic/likely pathogenic variant in a cancer susceptibility gene | Pathogenic variant in a cancer susceptibility gene present in the family | Pathogenic variant in a cancer susceptibility gene present in the family | BRCA1 or BRCA2 pathogenic variant present in the family | |||
10 | 1 | 10 | 1 | 10 | 1 | |
Two breast cancer primaries in a single individual | Present in patient/FDR/SDR, one at 46–50 years | Present in patient/FDR | Present in patient/FDR/ several SDRs/TDRs, one of them < 50 | |||
0 | 0 | 2 | 0.2 | 0 | 0 | |
Two individuals with breast cancer on the same side of the family with at least one diagnosed before or at 50 years | Present in patient/FDR/SDR | / | One in patient/FDR and another in FDR/SDR/TDR | |||
13 | 1.3 | 0 | 0 | 13 | 1.3 | |
Ovarian cancer (including peritoneal and fallopian tube cancer) | Present in patient/FDR/ SDR | Present in patient /FDR | Present in patient /FDR/several SDRs/TDRs | |||
57 | 5.7 | 29 | 2.9 | 29 | 2.9 | |
Male breast cancer | Present in FDR/SDR | Present in FDR | Present in FDR/SDR/TDR | |||
1 | 0.1 | 1 | 0.1 | 1 | 0.1 | |
Breast cancer diagnosed before or at 45/50 years | Cancer diagnosed ≤45 years in patient/FDR/SDR | Cancer diagnosed ≤50 years in patient/FDR | Cancer diagnosed ≤45 years in patient/FDR/several SDRs/TDRs | |||
44 | 4.4 | 35 | 3.5 | 24 | 2.4 | |
Pancreatic or metastatic prostate cancer | Pancreatic cancer in patient/FDR or breast cancer in patient/FDR/SDR and pancreatic cancer in SDR/TDR or high risk prostate cancer in patient/FDR or any prostate cancer in FDR/SDR and FDR/SDR/TDR with ovarian/pancreatic/high risk prostate cancer or patient/FDR/SDR with breast cancer and FDR/SDR/TDR with prostate cancer (either breast cancer at 46–50 or high risk prostate cancer) | / | Pancreatic cancer in patient/FDR and ≥ 2 FDR/SDR/TDR with breast/ovarian (peritoneal, fallopian tube)/ prostate cancer | |||
35 | 3.5 | 0 | 0 | 0 | 0 | |
An individual with a personal and/or family history of two cancers | Breast cancer in patient/FDR/SDR and FDR/SDR/TDR with ovarian (peritoneal, fallopian tube) | / | Breast cancer in patient/FDR and FDR/SDR/TDR with ovarian (peritoneal, fallopian tube) cancer | |||
22 | 2.2 | 0 | 0 | 10 | 1.0 | |
An individual with a personal and/or family history of three or more cancers | ≥3 cases of breast/prostate cancer in patient/FDR/SDR/TDR | ≥3 cases of breast/ovarian (peritoneal, fallopian tube)/pancreatic/aggressive prostate cancer in patient/FDR/SDR/TDR without cousins | Breast cancer in patient/FDR and ≥ 2 FDR/SDR/TDR with breast cancer in or breast cancer in patient/FDR and ≥ 2 FDR/SDR/TDR with pancreatic/aggressive prostate cancer | |||
8 | 0.8 | 7 | 0.7 | 3 | 0.3 | |
Number of women meeting the guidelines* | 132 | 13.2 | 71 | 7.1 | 70 | 7 |