Copyright
©The Author(s) 2019.
World J Clin Oncol. Nov 24, 2019; 10(11): 358-368
Published online Nov 24, 2019. doi: 10.5306/wjco.v10.i11.358
Published online Nov 24, 2019. doi: 10.5306/wjco.v10.i11.358
Age (yr) | Gene | Mutation | Variant classification | Cancer | Family history of cancer | Synchro-nous cancers | Histology | ||
Nucleotide change | Protein change | Type | |||||||
63 | BRCA1 | c.1889delA | p.Asn630IlefsTer2 | Frameshift | Pathogenic | Ovarian cancer IIIC | Ovarian cancer (sister) | - | High-grade serous |
64 | BRCA1 | c.981_982delAT | p.Cys328Ter | Frameshift | Pathogenic | Ovarian cancer IIIB | Ovarian cancer (sister) | - | High-grade serous |
56 | BRCA1 | c.5072C>A | p.Thr1691Lys | Missense | Likely pathogenic | Fallopian tube cancer IIA | - | - | High-grade serous |
52 | BRCA1 | c.3748G>T | p.Glu1250Ter | Nonsense | Pathogenic | Peritoneal cancer IIIC | Breast cancer (mother) ovarian cancer (sister) | - | High-grade serous |
46 | BRCA1 | c.2059C>T | p.Gln687Ter | Nonsense | Pathogenic | Ovarian cancer IIIC | Ovarian cancer (grandmother) | - | High-grade serous |
72 | BRCA1 | c.3049G>T | p.Glu1017Ter | Nonsense | Pathogenic | Ovarian cancer IIIA | Breast cancer (2 sisters) endometrial cancer (mother) | - | High-grade serous |
57 | BRCA1 | c.3770_3771delAG | p.Glu1257GlyfsTer9 | Frameshift | Pathogenic | Ovarian cancer IIIC | Breast cancer (aunt) | - | High-grade serous |
51 | BRCA1 | c.1426delC | p.His476MetfsTer2 | Frameshift | Pathogenic | Ovarian cancer IVB | Breast cancer (niece) | - | High-grade serous |
35 | BRCA1 | c.3020C>A | p.Ser1007Ter | Nonsense | Pathogenic | Ovarian cancer IIIC | Breast cancer (mother) | - | High-grade serous |
63 | BRCA1 | c.3181delA | p.Ile1061Ter | Frameshift | Pathogenic | Tubal cancer IVB | - | - | High-grade serous |
69 | BRCA1 | c.1155G>A | p.Trp385Ter | Nonsense | Pathogenic | Tubal cancer IC | - | - | High-grade serous |
45 | BRCA1 | c.3049G>T | p.Glu1017Ter | Nonsense | Pathogenic | Ovarian cancer IVB | - | - | High-grade serous |
62 | BRCA1 | c.4327C>T | p.Arg1443 | Frameshift | Pathogenic | Peritoneal cancer IIB | Breast cancer (daughter) Breast and ovarian cancer (sister) endometrial cancer (sister) | - | High-grade serous |
59 | BRCA1 | c.981_982delAT | p.Cys328Ter | Frameshift | Pathogenic | Ovarian cancer IIIC | Breast cancer (sister) | - | High-grade serous |
49 | BRCA2 | c.4126G > T | p.Gly1376Ter | Nonsense | Pathogenic | Ovarian cancer IIIC | Breast cancer (sister) Prostate cancer (uncle) Colon cancer (uncle) | - | High-grade serous |
56 | BRCA2 | c.7558C > T | p.Arg2520Ter | Nonsense | Pathogenic | Ovarian cancer IIIC | - | - | High-grade serous |
60 | BRCA2 | c.3109C > T | p.Gln1037Ter | Nonsense | Pathogenic | Ovarian cancer IVB | Breast cancer (2 sisters) | Breast cancer | High-grade serous |
49 | BRCA2 | c.1367_1368delAG | p.Lys457GlufsTer4 | Frameshift | Pathogenic | Ovarian cancer IIIC | Ovarian cancer (mother) | Breast cancer | High-grade serous |
40 | BRCA2 | c.22_23delAG | p.Arg8AlafsTer4 | Frameshift | Pathogenic | Ovarian cancer IIIC | Breast cancer (sister) | - | Clear cell carcinoma |
63 | BRCA2 | c.1405_1406delGA | p.Asp469 | Nonsense | Pathogenic | Ovarian cancer IIB | - | Breast cancer | High-grade serous |
46 | MLH1 | c.109G > A | p.Glu37Lys | Nonsense | Likely pathogenic | Ovarian cancer IIC and endometrial cancer IAG1 | Colon cancer (grandfather, father and uncle) | - | Well differentiated serous and well differentiated endometrioid |
48 | MSH2 | c.1183C > T | p.Gln395Ter | Nonsense | Pathogenic | Ovarian cancer IA and endometrial cancer IAG1 | Endometrial cancer (aunt) | Endometrial cancer | Endometrioid |
48 | CDH1 | c.1118C > T | p.Pro373Leu | Missense | Likely pathogenic | Ovarian cancer IC and endometrial cancer IAG3 | - | Endometrial cancer | Endometrioid with clear cell |
54 | RAD51C | c.905-2A > C | Not applicable | Splice site loss | Likely pathogenic | Ovarian cancer IIIC | Ovarian cancer (mother) | - | High-grade serous |
67 | ATM | c.1402_1403delAA | p.Lys468GlufsTer18 | Frameshift | Likely pathogenic | Ovarian cancer IA | - | Breast cancer (Triple- negative) | Clear cell |
52 | ATM | c.8431_8432delAA | p.Lys2811ValfsTer3 | Frameshift | Likely pathogenic | Ovarian cancer IIIC | Colon cancer (mother, aunt) liver cancer (aunt) | - | Clear cell |
- Citation: Manchana T, Phowthongkum P, Teerapakpinyo C. Germline mutations in Thai patients with nonmucinous epithelial ovarian cancer. World J Clin Oncol 2019; 10(11): 358-368
- URL: https://www.wjgnet.com/2218-4333/full/v10/i11/358.htm
- DOI: https://dx.doi.org/10.5306/wjco.v10.i11.358