Table 2 Pathogenic/like pathogenic variants in 2,080 Apparently Healthy Han Chinese Individuals
Gene | Exon | cDNA | Amino Acid | Mutation Type | ACMG Classification | Age and Gender of Carrier | Place of Birth (Genetic Cluster) | Developed Cancer during Follow-up? |
|---|---|---|---|---|---|---|---|---|
BRCA1 | 11 | c.869del | p.Leu290Tyrfs*8 | frameshift deletion | likely pathogenic | 29, Male | Jiangsu (East) | No, follow up duration of 20 months |
|  | 10 | c.2934T > G | p.Tyr978* | nonsense mutation | pathogenic | 38, Male | Hunan (South) | No, follow up duration of 24 months |
| Â | 24 | c.5470_5477del | p.Ile1824AspfsTer3 | frameshift deletion | pathogenic | 51, Female | Shandong (North) | TNBC in the 16th month of follow-up |
| Â | Â | Â | Â | Â | Â | 30, Female | Henan (North) | No, follow up duration of 5 months |
| Â | 24 | c.5521del | p.Ser1841Valfs*2 | frameshift deletion | pathogenic | 71, Female | Shandong (North) | No, follow up duration of 19 months |
BRCA2 | 11 | c.3523 C > T | p.Gln1175Ter | nonsense mutation | pathogenic | 33, Female | Zhejiang (East) | TNBC in the 10th month of follow-up |
| Â | 11 | c.3599_3600del | p.Cys1200Ter | nonsense mutation | pathogenic | 53, male | Anhui (East) | PDAC in the 9th month of follow-up |
|  | 11 | c.5682 C > G | p.Tyr1894Ter | nonsense mutation | pathogenic | 50, Female | Zhejiang (East) | No, follow up duration of 7 months |
| Â | 14 | c.7409dup | p.Thr2471HisfsTer4 | frameshift duplication | pathogenic | 48, Male | Jilin (North) | No, follow up duration of 6 months |
| Â | 21 | c.8650del | p.Tyr2884IlefsTer7 | frameshift deletion | likely pathogenic | 30, Female | Shanghai (East) | No, follow up duration of 7 months |
| Â | 27 | c.9753del | p.Lys3251Asnfs*24 | frameshift deletion | pathogenic | 39, Female | Jiangsu (East) | No, follow up duration of 21 months |