From: Frequency of the ATM IVS10-6T→G variant in Australian multiple-case breast cancer families
Proband | Institution | Index case (site, age dx) | Risk | BRCA1 | BRCA2 | Features of family history, first, second degree and other relatives (site, age dx) |
---|---|---|---|---|---|---|
1 | GHSV | Br, 37 | High | 5055delG (STOP 1657) | Normal | Breast/ovarian First degree: Mo (Br, 41; Ov, 42) Second degree: Mat Aunt (Ov, 46) Other (Mat): 2nd Cous fem (Br, 46–50); GrGM (Br, 86) |
2 | RMH | Br, 62; Ov, 62 | Mod | Normal | Normal | Breast/ovarian First degree: Sis (?Oc Mel, 61) Second degree: Mat Unc (NK, 40s) |
3 | SAFCS | Br, 51 | Mod | Normal | Normal | Breast First degree: Mo (Br, 51); Son (CRC, 24) |
4 | SAFCS | Br, 35 | Mod | 4654G→T (S1512I, unclassified variant) | Normal | Breast First degree: Mo (Br, 46) |
5 | SAFCS | Br, 68 | High | Normal | Normal | Breast/thyroid First degree: Mo (Br, 64); Bro (Pr, 64) Second degree: Nie (Br, 35; CRC, 42); Nie (Br, 35; Br, 51; Thy, 51); Mat GM (Br, 72) Other (Mat): 1st Cous fem (Br, 49), fem (Br multifocal), m (Pr, 68); 1st cous once removed fem (Br, 46; Br, 49), m (Thy, NK); 1st cous twice removed (Leuk, 14) |
6 | SAFCS | Br, 64 | High | Normal | Normal | Breast First degree: Mo (Br, 53); Sis (Br, 44); Dau (Mel, 38) Second degree: Mat Aunt (Br, 78); Mat GM (Bil, 75 and 92) |
7 | WH | Ov, 56 | High | 2080insA (STOP 762) | Normal | Breast/ovarian Second degree: Pat GM (Br, 63) Other (Pat): first Cous fem (Ov, 54), (Br, 53), (Br, 63); 1st Cous once removed (Ov, NK), (Ov, NK); 2nd Cous fem (Br, 50s), (Br, 50s) |