References
1. Choi MC, Bae JS, Jung SG, Park H, Joo WD, Song SH, et al. Prevalence of germline BRCA mutations among women with carcinoma of the peritoneum or fallopian tube. J Gynecol Oncol. 2018; 29:e43.
2. Caggiari L, Miolo G, Buonadonna A, Basile D, Santeufemia DA, Cossu A, et al. Characterizing metastatic HER2-positive gastric cancer at the CDH1 haplotype. Int J Mol Sci. 2018; 19:47.
Table 2.
Case | Age (yr) | Cancer | Gene | Site | Mutation | Mutation type | Double primary* | Family history† | FH of other cancer |
---|---|---|---|---|---|---|---|---|---|
Pathogenic mutations CHAPC-001 | 34 | PC | BRCA1 | IVS | c.212+1G>T | – | – | Pancreas (father) | Gall bladder (mother) |
CHAPC-003 | 69 | PC | BRCA2 | Exon 3 | c.199_211del13 | p.Arg67Ilefs | – | Breast (sister), Prostate (father) | – |
CHAPC-011 | 60 | PC | BRCA2 | Exon 11 | c.2808_2811delACAA | p.Ala938Profs | Breast cancer | – | Cervix (patient), Brain (father) |
CHAPC-014 | 38 | PC | BRCA1 | Exon 11 | c.922_924delAGCinsT | p.Ser308Terfs | – | Ovary (grandmother) Peritoneal (cousin sister), Pancreas (cousin) | Endometrial (cousin sister), |
CHATC-003 | 34 | FTC | BRCA1 | Exon 21 | c.5339T>C | p.Leu1780Pro | – | – | Stomach (father, grandmother) |
CHATC-005 | 56 | FTC | BRCA1 | Exon 10 | c.3895C>T | p.Gln1299Ter | – | Ovary (sister) | |
VUS | |||||||||
CHAPC-002 | 56 | PC | TP53 | Exon 5 | c.516T>G | p.Val172= | – | – | – |
CHAPC-004 | 81 | PC | BRCA1 | Exon 10 | c.824G>A | p.Gly275Asp | – | – | – |
CHAPC-005 | 43 | PC | BRCA2 | Exon 10 | c.964A>C | p.Lys322Gln | – | – | – |
CHAPC-008 | 80 | PC | BRCA2 | Exon 14 | c.7050C>T | p.Thr2350= | – | – | – |
CDH1 | IVS | c.2164+15_2164+16insA | – | ||||||
CHAPC-009 | 74 | PC | CDH1 | IVS | c.2164+15_2164+16insA | – | – | Breast (daughter) | – |
CHAPC-010 | 84 | PC | CDH1 | IVS | c.2164+15_2164+16insA | – | – | – | – |
CHAPC-012 | 50 | PC | BRCA1 | Exon 10 | c.2247T>C | p.Asp749= | – | Breast (mother) | Thyroid (patient) |
CHATC-001 | 35 | FTC | BRCA2 | Exon 14 | c.7307A>T | p.Asn2436Ile | – | – | – |
CDH1 | Exon 12 | c.1888C>G | p.Leu630Val | ||||||
CHATC-005 | 56 | FTC | TP53 | Exon 6 | c.566C>T | p.Ala189Val | – | Ovary (sister) | – |