Observational Study
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
Table 2 Details of epithelial ovarian cancer patients with germline mutations
Age (yr)GeneMutation
Variant classificationCancerFamily history of cancerSynchro-nous cancersHistology
Nucleotide changeProtein changeType
63BRCA1c.1889delAp.Asn630IlefsTer2FrameshiftPathogenic Ovarian cancer IIICOvarian cancer (sister)- High-grade serous
64BRCA1c.981_982delATp.Cys328TerFrameshiftPathogenicOvarian cancer IIIBOvarian cancer (sister)-High-grade serous
56BRCA1c.5072C>Ap.Thr1691LysMissenseLikely pathogenicFallopian tube cancer IIA--High-grade serous
52BRCA1c.3748G>Tp.Glu1250TerNonsensePathogenicPeritoneal cancer IIICBreast cancer (mother) ovarian cancer (sister)-High-grade serous
46BRCA1c.2059C>Tp.Gln687TerNonsensePathogenicOvarian cancer IIICOvarian cancer (grandmother)-High-grade serous
72BRCA1c.3049G>Tp.Glu1017TerNonsensePathogenicOvarian cancer IIIABreast cancer (2 sisters) endometrial cancer (mother)-High-grade serous
57BRCA1c.3770_3771delAGp.Glu1257GlyfsTer9FrameshiftPathogenicOvarian cancer IIICBreast cancer (aunt)-High-grade serous
51BRCA1c.1426delCp.His476MetfsTer2FrameshiftPathogenicOvarian cancer IVBBreast cancer (niece)-High-grade serous
35BRCA1c.3020C>Ap.Ser1007TerNonsensePathogenicOvarian cancer IIICBreast cancer (mother)-High-grade serous
63BRCA1c.3181delAp.Ile1061TerFrameshiftPathogenicTubal cancer IVB--High-grade serous
69BRCA1c.1155G>Ap.Trp385TerNonsensePathogenicTubal cancer IC--High-grade serous
45BRCA1c.3049G>Tp.Glu1017TerNonsensePathogenicOvarian cancer IVB--High-grade serous
62BRCA1c.4327C>Tp.Arg1443FrameshiftPathogenicPeritoneal cancer IIBBreast cancer (daughter) Breast and ovarian cancer (sister) endometrial cancer (sister)-High-grade serous
59BRCA1c.981_982delATp.Cys328TerFrameshiftPathogenicOvarian cancer IIICBreast cancer (sister)-High-grade serous
49BRCA2c.4126G > Tp.Gly1376TerNonsensePathogenicOvarian cancer IIICBreast cancer (sister) Prostate cancer (uncle) Colon cancer (uncle)-High-grade serous
56BRCA2c.7558C > Tp.Arg2520TerNonsensePathogenicOvarian cancer IIIC--High-grade serous
60BRCA2c.3109C > Tp.Gln1037TerNonsensePathogenicOvarian cancer IVBBreast cancer (2 sisters)Breast cancerHigh-grade serous
49BRCA2c.1367_1368delAGp.Lys457GlufsTer4FrameshiftPathogenicOvarian cancer IIICOvarian cancer (mother)Breast cancerHigh-grade serous
40BRCA2c.22_23delAGp.Arg8AlafsTer4FrameshiftPathogenicOvarian cancer IIICBreast cancer (sister)-Clear cell carcinoma
63BRCA2c.1405_1406delGAp.Asp469NonsensePathogenicOvarian cancer IIB-Breast cancerHigh-grade serous
46MLH1c.109G > Ap.Glu37LysNonsenseLikely pathogenicOvarian cancer IIC and endometrial cancer IAG1Colon cancer (grandfather, father and uncle)-Well differentiated serous and well differentiated endometrioid
48MSH2c.1183C > Tp.Gln395TerNonsensePathogenicOvarian cancer IA and endometrial cancer IAG1Endometrial cancer (aunt)Endometrial cancerEndometrioid
48CDH1c.1118C > Tp.Pro373LeuMissenseLikely pathogenicOvarian cancer IC and endometrial cancer IAG3-Endometrial cancerEndometrioid with clear cell
54RAD51Cc.905-2A > CNot applicableSplice site lossLikely pathogenicOvarian cancer IIICOvarian cancer (mother)-High-grade serous
67ATMc.1402_1403delAAp.Lys468GlufsTer18FrameshiftLikely pathogenicOvarian cancer IA-Breast cancer (Triple- negative)Clear cell
52ATMc.8431_8432delAAp.Lys2811ValfsTer3FrameshiftLikely pathogenicOvarian cancer IIICColon cancer (mother, aunt) liver cancer (aunt)-Clear cell