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

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): 2^nd 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): 1^st Cous fem (Br, 49), fem (Br multifocal), m (Pr, 68); 1^st cous once removed fem (Br, 46; Br, 49), m (Thy, NK); 1^st 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); 1^st Cous once removed (Ov, NK), (Ov, NK); 2^nd Cous fem (Br, 50s), (Br, 50s)