Family data for the BRCA2 exon 7 variants analysed in this study
| BRCA2 | Publications | Family data* | |
|---|---|---|---|
| Nucleotide variant | Protein variant | ||
| c.517G>T | p.Gly173Cys | F1: 2 BC (30, 40†) | |
| c.520C>T | p.Arg174Cys | Ref.16 | F2: 6 BC
(44, 48†, 50, 54†, 60, 65) F3: 2 BC (37†, 54) |
| c.522T>G | p.Arg174Arg | F4: 4 BC (44, 53, 63†, 66) | |
| c.572A>G | p.Asp191Gly | F5: 2 BC (25†, 36) F6: 1 BC (36†, 37) | |
| c.587G>A | p.Ser196Asn | F7: Bilateral BC† (45, 47) | |
| c.617C>G | p.Ser206Cys | F8: 2 BC (48†, 53) | |
| c.625C>T | p.Leu209Phe | F9: 2 BC (33†54) | |
| c.631G>A | p.Val211Ile | Ref.23 Ref.24 Reported with mutation BRCA2 c.7008-2A>T in cis | F10: 3 BC (44†, 50, 70) F11: 4 BC (32, 55†, 70) Both probands carry an additional BRCA2 mutation (c.7008-2A>T) in cis |
*Family data are reported for each family (F1 to F11). Number of cancers in the same familial branch (BC, breast cancers), as well as age at diagnosis (in parenthesis, proband in bold) are indicated;
†Individuals for whom a genetic analysis was performed and revealed the presence of a BRCA2 variant, as indicated. Note that the mother of the proband in family F2 was diagnosed with breast cancer at age 54 years and was also found to be a carrier of the variant c.520C>T.