Table 2 Family history and gene mutations detected by NGS
Member | History of cancer | Germline mutation of BRCA1 | Concurrent mutation |
|---|---|---|---|
Patient | Peritoneal carcinoma, fallopian tube adenocarcinoma, metastatic colorectal cancer | BRCA1 (c.5470_5477delATTGGGCA, p.lle1824AspfsX3) | Somatic mutation: TP53 (p. Tyr220Cys) VHL (p. Ser65Ala) NF1 (exon41-46del) FGF3 (p. Ala107Pro) KMT2A (p. Asp649Asn) NBN (p. Asp677Gly) |
Mother | Breast cancer | BRCA1 (c.5470_5477delATTGGGCA, p.lle1824AspfsX3) | Not performed |
Father | Prostate cancer (Died) | – | – |
Sister | Breast cancer (Died) | – | – |
Brother | None | Wild-type | Not performed |