1Hereditary Cancer Clinic, Cancer Prevention Center, Yonsei Cancer Center, Seoul, Korea
2Department of Obstetrics and Gynecology, Institute of Women’s Life Medical Science, Women’s Cancer Clinic, Yonsei University College of Medicine, Seoul, Korea
3Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea
4Department of Surgery, Yonsei University College of Medicine, Seoul, Korea
5Department of Medicine, Yonsei University College of Medicine, Seoul, Korea
6Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea
7Department of Obstetrics and Gynecology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea
Copyright © 2018 by the Korean Cancer Association
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Characteristic | Total (n=117) | Mutation (n=38)a) | BRCA1/2 mutation (n=31) | Non-BRCA1/2 mutation (n=8) | p-value |
---|---|---|---|---|---|
Age, median (range, yr) | 52 (16-83) | 58 (40-76) | 56 (45-76) | 54 (40-71) | 0.360 |
Stage | |||||
I | 25 (21.4) | 3 (7.9) | 1 (3.2) | 2 (25.0) | 0.086 |
II | 8 (6.8) | 3 (7.9) | 3 (9.7) | 0 | |
III | 51 (43.6) | 21 (55.3) | 18 (58.1) | 4 (50.0) | |
IV | 33 (28.2) | 11 (28.9) | 9 (29.0) | 2 (25.0) | |
Histology | |||||
Serous | 83 (70.9) | 33 (86.8) | 28 (90.3) | 6 (75.0) | 0.172 |
Mucinous | 7 (6.0) | 0 | 0 | 0 | |
Endometrioid | 11 (9.4) | 1 (2.6) | 1 (3.2) | 0 | |
Clear cell | 10 (8.5) | 1 (2.6) | 0 | 1 (12.5) | |
Mixed | 6 (5.1) | 3 (7.9) | 2 (6.5) | 1 (12.5) | |
Ancestry | |||||
Asian | 116 (99.1) | 38 (100) | 31 (100) | 8 (100) | > 0.99 |
White/Caucasian | 1 (0.9) | 0 | 0 | 0 | |
Family history of cancer | 64 (54.7) | 25 (65.8) | 21 (67.7) | 4 (50.0) | 0.712 |
Diagnosis at less than 50 | 47 (40.2) | 10 (26.3) | 8 (25.8) | 2 (25.0) | 0.795 |
Concurrent breast cancer | 7 (6.0) | 6 (15.8) | 6 (19.4) | 0 | 0.307 |
Gene | Breast | Ovarian | Colorectal | Endometrial | Pancreatic | Gastric | Prostate | Other |
---|---|---|---|---|---|---|---|---|
BRCA1, BRCA2 | O | O | - | - | O | - | O | - |
MLH1, MSH2, MSH6, PMS2, EPCAM | - | O | O | O | O | O | - | O |
STK11 | O | O | O | O | O | O | - | O |
APC, BMPR1A, SMAD4 | - | - | O | - | O | O | - | O |
MUTYH | - | - | O | - | - | - | - | O |
CDKN2A, CDK4 | - | - | - | - | O | - | - | - |
TP53 | O | O | O | O | O | O | O | O |
PTEN | O | - | O | O | - | - | - | O |
CDH1 | O | - | O | - | - | O | - | - |
PALB2, ATM | O | - | - | - | - | - | - | - |
CHEK2 | O | - | O | - | O | - | O | - |
NBN | O | - | - | - | - | - | O | - |
BARD1 | O | - | - | - | - | - | - | - |
BRIP1, RAD51C, RAD51D, RAD50, SLX4 | O | O | - | - | - | - | - | - |
BLM | - | - | - | - | - | - | - | O |
MEN1, RET | - | - | - | - | - | - | - | O |
MRE11A | O | - | - | - | - | - | - | - |
POLE | - | - | O | - | - | - | - | - |
PRSS1 | - | - | - | - | O | - | - | - |
VHL, WT1 | - | - | - | - | - | - | - | O |
Characteristic | Total (n=117) | Mutation (n=38) |
BRCA1/2 mutation (n=31) | Non-BRCA1/2 mutation (n=8) | p-value |
---|---|---|---|---|---|
Age, median (range, yr) | 52 (16-83) | 58 (40-76) | 56 (45-76) | 54 (40-71) | 0.360 |
Stage | |||||
I | 25 (21.4) | 3 (7.9) | 1 (3.2) | 2 (25.0) | 0.086 |
II | 8 (6.8) | 3 (7.9) | 3 (9.7) | 0 | |
III | 51 (43.6) | 21 (55.3) | 18 (58.1) | 4 (50.0) | |
IV | 33 (28.2) | 11 (28.9) | 9 (29.0) | 2 (25.0) | |
Histology | |||||
Serous | 83 (70.9) | 33 (86.8) | 28 (90.3) | 6 (75.0) | 0.172 |
Mucinous | 7 (6.0) | 0 | 0 | 0 | |
Endometrioid | 11 (9.4) | 1 (2.6) | 1 (3.2) | 0 | |
Clear cell | 10 (8.5) | 1 (2.6) | 0 | 1 (12.5) | |
Mixed | 6 (5.1) | 3 (7.9) | 2 (6.5) | 1 (12.5) | |
Ancestry | |||||
Asian | 116 (99.1) | 38 (100) | 31 (100) | 8 (100) | > 0.99 |
White/Caucasian | 1 (0.9) | 0 | 0 | 0 | |
Family history of cancer | 64 (54.7) | 25 (65.8) | 21 (67.7) | 4 (50.0) | 0.712 |
Diagnosis at less than 50 | 47 (40.2) | 10 (26.3) | 8 (25.8) | 2 (25.0) | 0.795 |
Concurrent breast cancer | 7 (6.0) | 6 (15.8) | 6 (19.4) | 0 | 0.307 |
Case No. | Stage | Histology | Age at diagnosis (yr) | Affected gene | Family history of cancer | Nucleotide change | Amino-acid change dbSNP | Accession No. | Variant effect | Pathogenicity |
---|---|---|---|---|---|---|---|---|---|---|
1 | IC1 | Serous | 50 | RAD51C | Stomach (mother) | c.597_603delCACTCTT | p.Phe199LeufsTer38 | NM_058216.2 | Frameshift | Pathogenic |
2 | IIIC | Serous | 52 | RAD51D | - | c.270_271dupTA | p.Lys91IlefsTer13 | NM_002878.3 | Frameshift | Pathogenic |
3 | IIIC | Seromucinous | 56 | POLE | Stomach (mother) | c.6323dupT | p.Cys2109ValfsTer16 | NM_006231.2 | Frameshift | Pathogenic |
4 | IIIC | Serous | 57 | RAD51C | - | c.597_603delCACTCTT | p.Phe199LeufsTer38 | NM_058216.2 | Frameshift | Pathogenic |
5 | IIIC | Serous | 58 | RAD51D | - | c.904-2A>T | - | NM_002878.3 | Splicing | Likely pathogenic |
6 | IVB | Serous | 71 | BRIP1 | - | c.1776G>A | p.Trp592Ter | NM_032043.2 | Nonsense | Pathogenic |
7 | IC3 | Clear | 49 | MSH2 | Stomach (father), colon (brother) | c.1321dupA | p.Thr441AsnfsTer2 | NM_000251.2 | Frameshift | Pathogenic |
8 | IVB | Serous | 40 | CHEK2 | Colon (father) | c.1555C>T | p.Arg519Ter | NM_007194.3 | Nonsense | Pathogenic |
Values are presented as number (%). Two mutations including