Table 2 Germline BRCA1 and BRCA2 mutations detected in selected samples from 136 unrelated probands and clinicopathologic correlations
From: BRCA1 and BRCA2 mutations in central and southern Italian patients
Sex | Type of cancer | Family history | Gene | Exon | Codon | Nucleotide | Effect |
|---|---|---|---|---|---|---|---|
Female | Br (26) | None | BRCA1 | 11 | 454 | 1479 | delAG-ter454 |
Female | Ov (45) | Mo: Ov (57) | BRCA1 | 11 | 502 | 1623 | 5bpdel-ter505 |
Female | Br (64) | D: Br (24) | BRCA1 | 11 | 1254 | 3880 | delAG-ter1265 |
D: Br (41) | |||||||
Female | Br (38) | Fa: Ga (64) | BRCA1 | 5 | 61 | 300 | Cys/Gly |
Pa: Br (50) | |||||||
Female | bil Br (40) | Mo: Br (49) | BRCA1 | 16 | 1655 | 5083 | del19bp-ter1670 |
Male | Br (79) | S: Br (35) | BRCA2 | 11 | 1293 | 4109 | TTA-TAA |
S: Br (55) | (Lys-Stop) | ||||||
S: Br (50) | |||||||
S: Col (47) | |||||||
Female | Br (55) | S: Br (49) | BRCA2 | 11 | 1370 | 4339 | CAG-TAG |
S: Pan (52) | (Glu-Stop) | ||||||
B: Col (54) | |||||||
Female | Br (62) | Mo: Br (59) | BRCA2 | 11 | 1629 | 5117 | TCA-TGA |
(Ser-Stop) | |||||||
Male | Br (54) | None | BRCA2 | 11 | 1906 | 5950 | delCT-ter1909 |
Female | Br (57) | S: Br (50) | BRCA2 | 11 | 2156 | 6696 | delTC-ter2174 |
2Female | Br (34) | None | BRCA2 | 11 | 2156 | 6696 | delTC-ter2174 |