Table 3.
Patients | Genes | Age at diagnosis | Sequence variant | Consequence | Interpretation | Affected member family | |
---|---|---|---|---|---|---|---|
Breast or ovarian cancers (age at diagnosis: years) | Other cancer (age at diagnosis: years) | ||||||
760 | BRCA1 | 39 | c.5117G>C | (p.Gly1706Ala) | FP | No | Uncle M, liver 2 aunts P, blood (75, 80) |
769 | BRCA2 | 40 | c.7462A>G | (p.Arg2488Gly) | VUCS | Mother, breast (62) | No |
772 | BRCA2 BRCA1 |
39 | c.1504A>C | (p.Lys502Gln) | VUCS | Sister, breast (23) | No |
c.5117G>C | (p.Gly1706Ala) | FP | |||||
789 | BRCA2 | 40 | c.5939C>T | (p.Thr1980Ile) | VUCS | No | No |
798 | BRCA2 | 39 | c.1627C>A | (p.His543Asn) | VUCS | No | Father, lung (76) |
FP: favor polymorphism, M: maternal, P: paternal, VUCS: variant of uncertain clinical significance.