Table 3.
Germline mutations in patients with HGSC.
| Gene | Genetic polymorphism | NCBI Genomes Browser | Clinical Significance | Frequency |
|---|---|---|---|---|
| BRCA2 | c.1405_1406del p.Asp469* chr 13.32907016_32907017del | rs397507586 | Pathogenic | 1 |
| c.2339C>G p.Ser780* chr13: 32910831 C>G | rs587781471 | Pathogenic | 1 | |
| c.3554_3563del p.Thr1185Ilefs*9 chr13: 32912046_32912055del | rs397507675 | Pathogenic | 1 | |
| c.2808_2811del: p.Ala938Profs*21 chr13: 32911300_32911303del | rs80359351 | Pathogenic | 1 | |
| c.7355 A>T p.Asn2452Ile chr13: 32929345 A>T | VUS | 1 | ||
| c.8117A>G p.Asn2706Ser chr13: 32937456 A>G | rs80359055 | VUS | 1 | |
| BRCA1 | c.5497G>A p.Val1833Met chr17:41197790 C>T | rs80357268 | Pathogenic | 2 |
| exon6: c.427del: p.Glu143LysfsTer20 | Pathogenic | 1 | ||
| exon20: c.5194-452_5277+3638del NM_007294.3 | Pathogenic | 1 | ||
| c.3679C>T p.Gln1227Ter | Pathogenic | 1 | ||
| c.3481_3491del: p.Glu1161Phefs exon11 | Pathogenic | 1 | ||
| c.3157dup p.Glu1053Glyfs*7 chr17: 41244391 dup | rs397509042 | Pathogenic | 1 | |
| p.Cys61Gly c.181 T>G | Pathogenic | 1 | ||
| c.3541G>A p.Val1181Ile | rs56336919 | VUS | 1 | |
| c.457A>G p.Ser153Gly | VUS | 1 | ||
| c.536A>G p.Tyr179Cys | VUS | 1 | ||
| c.1456T>C p.Phe486Leu | VUS | 1 | ||
| c.1648A>C p.Asn550His | VUS | 1 | ||
| c.3367G>T p.Asp1123Tyr | VUS | 1 | ||
| APC | c.3920T>A p.Ile1307Lys chr5:112175211 T>A | rs1801155 | Pathogenic | 1 |
| MUTYH | c.452A>G p.Tyr151Cys | Pathogenic | 1 | |
| MLH1 | c.1460G>A (p.Arg487Gln) chr3: 37070325G>A | rs587778917 | VUS | 1 |
| MSH2 | c.1043A>G p.Gln348Arg chr2: 47643535 A>G | rs773177076 | VUS | 1 |
| c.1321 A>T p.Thr441Ser chr2: 47672731 A>T | VUS | 1 | ||
| c.439 G>A p.Val147Ile chr2: 47637305 G>A | rs773125415 | VUS | 1 | |
| ATM | c.7816A>G p.Ile2606Val chr11: 108203516 A>G | rs376824528 | VUS | 1 |
| BRIP1 | c.2327 C>A p.Ala776Asp chr17: 59820426 G>T | rs1555590421 | VUS | 1 |
| CHEK2 | c.320-5T>A chr22: 29121360 A>T | rs121908700 | VUS | 1 |