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Table 3 ATM IVS10-6T→G variant carriers: features of family history and BRCA1 and BRCA2 status

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)
  1. Age dx, age in years at diagnosis; Bil, biliary; Br, breast; Bro, brother; Cous, cousin; CRC, colorectal cancer; Dau, daughter; fem, female; GHSV, Genetic Health Services Victoria;GM, grandmother; Gr, great; Leuk, leukemia; m, male; mat, maternal; Mel, melanoma; Mo, mother; Nie, niece; NK, not known; Oc Mel, ocular melanoma; Ov, ovarian; Pr, prostate; Pat, paternal; RMH, Royal Melbourne Hospital; SAFCS, SA Familial Cancer Service; Sis, sister; Thy, thyroid; Unc, uncle; WH, Westmead Hospital.