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. 2021 Mar;9(5):364. doi: 10.21037/atm-20-5136

Table 2. Pathologic HRR gene mutations of paired ovarian cancer samples.

Sample ID Gene Variant Function Type
11 BRCA1 NM_007294.3(BRCA1):c.845C>G(p.Ser282*) Nonsense Germline
25 BRIP1 NM_032043.2(BRIP1):c.1214C>A(p.Ser405*) Nonsense Germline
31 BRCA1 NM_007294.3(BRCA1):exon17-19cn_del Large_genomic_rearrangement Germline
33 BRIP1 NM_032043.2(BRIP1):c.1315C>T(p.Arg439*) Nonsense Germline
42 BRCA2 NM_000059.3(BRCA2):c.6359C>G(p.Ser2120*) Nonsense Germline
44 BRCA1 NM_007294.3(BRCA1):c.3770_3771del(p.Glu1257fs) Frameshift_variant Germline
48 BRCA2 NM_000059.3(BRCA2):c.6405_6409del(p.Asn2135fs) Frameshift_variant Germline
ATM NM_000051.3(ATM):c.4852C>T(p.Arg1618*) Nonsense Germline
PTEN NM_000314.6(PTEN):c.844G>T(p.Gly282*) Nonsense Somatic
18 PTEN NM_000314.6(PTEN):c.346del(p.Asp116fs) Frameshift_variant Somatic
PTEN NM_000314.6(PTEN):c.389G>A(p.Arg130Gln) Missense_variant Somatic
22 BRCA1 NM_007294.3(BRCA1):c.4327C>T(p.Arg1443*) Nonsense Somatic
26 BRCA2 NM_000059.3(BRCA2):c.475+1G>A Splice_donor_variant Somatic
27 PTEN cn_del Cn_del Somatic
28 BRIP1 NM_032043.2(BRIP1):c.1741C>T(p.Arg581*) Nonsense Somatic
34 BRCA2 NM_000059.3(BRCA2):exon25-27cn_del Large_genomic_rearrangement Somatic