1Center for Breast Cancer, Hospital, National Cancer Center, Goyang, Korea
2College of Veterinary Medicine, Konkuk University, Seoul, Korea
3Department of Cancer Control and Policy, Graduate School of Cancer Science and Policy, National Cancer Center, Goyang, Korea
4Biomolecular Function Research Branch, National Cancer Center, Goyang, Korea
5Genetic Counseling Clinic, Hospital, National Cancer Center, Goyang, Korea
6Department of System Cancer Science, Graduate School of Cancer Science and Policy, National Cancer Center, Goyang, Korea
7Translational Epidemiology Branch, National Cancer Center, Goyang, Korea
8Precision Medicine Branch, Research Institute, National Cancer Center, Goyang, Korea
Copyright © 2017 by the Korean Cancer Association
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Characteristic | No. (%) |
---|---|
Female | 328 |
Current age, median (range, yr) | 44 (25-76) |
Age at cancer diagnosis, median (range, yr) | 43 (25-73) |
Classification of cancer type | |
Invasive ductal carcinoma | 236 (72.0) |
Ductal carcinoma in situ | 36 (11.0) |
Invasive lobular carcinoma | 18 (5.5) |
Lobular carcinoma in situ | 4 (1.2) |
Others | 34 (10.4) |
Stage of breast cancer | |
Stage 0 | 40 (12.2) |
Stage I | 124 (37.8) |
Stage II | 102 (31.1) |
Stage III | 47 (14.3) |
Stage IV | 11 (3.4) |
Unknown | 4 (1.2) |
Family history | |
Breast cancer | 216 (65.9) |
Ovarian cancer | 25 (7.6) |
Breast and ovarian cancer | 11 (3.4) |
Without family history | 76 (23.2) |
Pathogenic mutation carrier | |
BRCA1 pathogenic variant | 20 (6.1) |
BRCA2 pathogenic variant | 27 (8.2) |
Large genomic rearrangement | |
MLPA tested patients | 196 (59.7) |
BRCA1 rearrangement carrier | 3 (0.9) |
BRCA2 rearrangement carrier | 0 |
Unclassified variants | |
Patients with BRCA1 unclassified variant | 127 (38.7) |
Patients with BRCA2 unclassified variant | 113 (34.5) |
Genetic alteration | BRCA1 | BRCA2 |
---|---|---|
Pathogenic variants | 17 | 18 |
Frameshift | 10 | 8 |
Nonsense | 7 | 10 |
Unclassified variants | 33 | 47 |
1000 Genomes Phase 3 MAFs in EAS (< 0.02) | 26 | 40 |
MAF in 328 breast cancer patients (> 0.005) | 7 | 12 |
Genotyping in controls | 6 | 9 |
Gene | GRCh38.p2 | Exon/Intron | BIC nomenclature | Nucleotide (NM_000059.3) | Amino acids (NP_000050.2) | dbSNP144 | Breast cancer patients (n=328) | 1000G ALL | 1000G EAS | Controls (n=421) | Genotype frequency |
---|---|---|---|---|---|---|---|---|---|---|---|
BRCA1 | 43,106,514 | 5 | 273C>T | c.154C>T | p.Leu52Phe | rs80357084 | 3 | - | - | 5 | 0.012 |
43,099,761 | IVS8 | 666+14delG | c.547+14delG | - | rs273902771 | 2 | - | - | 1 | 0.002 | |
43,092,965 | 11 | 2685T>C | c.2566T>C | p.Tyr856His | rs80356892 | 19 | 0.003 | 0.014 | 14 | 0.033 | |
43,092,083 | 11 | 3567C>T | c.3448C>T | p.Pro1150Ser | rs80357272 | 5 | 0.001 | 0.004 | 1 | 0.002 | |
43,071,031 | 16 | 5002T>C | c.4883T>C | p.Met1628Thr | rs4986854 | 8 | 0.003 | 0.012 | 11 | 0.026 | |
43,049,188 | 22 | 5458T>C | c.5339T>C | p.Leu1780Pro | rs80357474 | 4 | - | - | 0 | 0 | |
BRCA2 | 32,332,421 | 10 | 1171T>A | c.943T>A | p.Cys315Ser | rs79483201 | 3 | 0.002 | 0.008 | 2 | 0.005 |
32,333,222 | 10 | 1972A>C | c.1744A>C | p.Thr582Pro | rs80358457 | 2 | 0.000 | 0.002 | 7 | 0.017 | |
32,336,705 | 11 | 2578A>C | c.2350A>G | p.Met784Val | rs11571653 | 6 | 0.004 | 0.018 | 9 | 0.021 | |
32,337,575 | 11 | 3448A>T | c.3220A>T | - | rs145605603 | 2 | 0.000 | 0.001 | 1 | 0.002 | |
32,340,384 | 11 | 6257T>G | c.6029T>G | p.Val2010Gly | rs80358839 | 3 | - | - | 0 | 0 | |
32,340,680 | 11 | 6553G>A | c.6325G>A | p.Val2109Ile | rs79456940 | 3 | 0.000 | 0.002 | 3 | 0.007 | |
32,354,905 | 13 | 7280C>G | c.7052C>G | p.Ala2351Gly | rs80358932 | 3 | 0.001 | 0.004 | 3 | 0.007 | |
32,356,514 | 15 | 7750G>A | c.7522G>A | p.Gly2508Ser | rs80358978 | 2 | - | - | 0 | 0 | |
32,363,389 | 18 | 8415G>T | c.8187G>T | p.Lys2729Asn | rs80359065 | 10 | 0.003 | 0.012 | 10 | 0.024 |
Control (n=421): current age, 45 (27-71) years. MLPA, multiplex ligation-dependent probe amplification assay.
MAF, minor allele frequency; EAS, East-Asian population.
BIC, Breast Cancer Information Core; 1000G ALL, minor allele frequency from all population in the 1000 Genomes Phase 3 database; 1000G EAS, minor allele frequency from East-Asian population in the 1000 Genomes Phase 3 database.