Gene | Exon | cDNA | Amino Acid | Mutation Type | # of Carriers | ACMG Classification | Cancer Type | Gender | Age | Onset of Disease | Place of Birth (Genetic Cluster) |
---|---|---|---|---|---|---|---|---|---|---|---|
BRCA1 | 7 | c.367dup | p.Ser123PhefsTer19 | frameshift duplication | 1 | likely pathogenic | PDAC | Female | 52 | 51 | Zhejiang (East) |
 | 11 | c.2197_2201del | p.Glu733ThrfsTer5 | frameshift deletion | 1 | pathogenic | TNBC | Female | 32 | 31 | Shandong (North) |
 | 11 | c.3294del | p.Pro1099Leufs*10 | frameshift deletion | 1 | pathogenic | TNBC | Female | 24 | 22 | Anhui (East) |
 | 11 | c.3329dup | p.Gln1111Alafs*4 | frameshift duplication | 1 | pathogenic | TNBC | Female | 38 | 36 | Jiangsu (East) |
 | 18 | c.5138T > C | p.Val1713Ala | nonsynonymous substitution | 1 | likely pathogenic | TNBC | Female | 57 | 39 | Shanghai (East) |
 | - | c.5194-1del | - | intronic splicing | 1 | likely pathogenic | TNBC | Female | 35 | 33 | Jiangxi (South) |
 | 22 | c.5357T > C | p.Leu1786Pro | nonsynonymous substitution | 1 | likely pathogenic | TNBC | Female | 59 | 58 | Shanghai (East) |
 | 24 | c.5470_5477del | p.Ile1824AspfsTer3 | frameshift deletion | 3 | pathogenic | TNBC | Female | 42 | 40 | Shandong (North) |
 |  |  |  |  |  |  | TNBC | Female | 38 | 35 | Hebei (North) |
 |  |  |  |  |  |  | TNBC | Female | 34 | 33 | Hebei (North) |
BRCA2 | 5 | c.470_474del | p.Lys157Sfs*24 | frameshift deletion | 1 | pathogenic | TNBC | Female | 30 | 28 | Shanghai (East) |
 | 11 | c.3847_3848del | p.Val1283Lysfs*2 | frameshift deletion | 2 | pathogenic | PDAC | Male | 47 | 45 | Anhui (East) |
 |  |  |  |  |  |  | PDAC | Male | 71 | 70 | Shanghai (East) |
 | 11 | c.4630_4631dup | p.Asn1544LysfsTer25 | frameshift duplication | 1 | likely pathogenic | mCRPC | Male | 67 | 63 | Jiangsu (East) |
 | 11 | c.5073dup | p.Trp1692MetfsTer3 | frameshift duplication | 1 | pathogenic | HGOC | Female | 54 | 47 | Shanghai (East) |
 | 11 | c.5682 C > G | p.Tyr1894Ter | nonsense mutation | 1 | pathogenic | TNBC | Female | 39 | 26 | Shanghai (East) |
 | 11 | c.5980 C > T | p.Gln1994Ter | nonsense mutation | 1 | pathogenic | mCRPC | Male | 74 | 73 | Shanghai (East) |
 | 11 | c.6155 C > G | p.Ser2052Ter | nonsense mutation | 1 | pathogenic | TNBC | Female | 46 | 45 | Shanghai (East) |
 | 11 | c.6405_6409del | p.Asn2135LysfsTer3 | frameshift deletion | 1 | pathogenic | mCRPC | Male | 69 | 68 | Shanghai (East) |
 | 15 | c.7480 C > T | p.Arg2494* | nonsense mutation | 1 | pathogenic | PDAC | Male | 64 | 61 | Shandong (North) |
 | 22 | c.8941_8942del | p.Glu2981Lysfs*36 | frameshift deletion | 1 | pathogenic | TNBC | Female | 29 | 27 | Hubei (Central) |
 | 23 | c.9117G > A | p.Pro3039= | synonymous substitution | 1 | pathogenic | TNBC | Female | 35 | 34 | Inner Mongolia (North) |
 | 24 | c.9122 C > G | p.Ser3041Ter | nonsense mutation | 2 | likely pathogenic | TNBC | Female | 38 | 35 | Henan (North) |
 |  |  |  |  |  |  | TNBC | Female | 71 | 71 | Henan (North) |