Table 2 The main characteristics of Case Controls studies of ATM variants on risk of Breast cancer

Thomas A. Buchholz;et al.(2004,USA)

Patients with breast carcinoma between 1997 to 2000, and Control participants did not have a personal history of malignant disease

All age

1031Total

940(case

)91 control

Ser49Cys

odds ratio [OR] breast carcinoma:

5.52

(1.89–16.12)

bilateral breast carcinoma:

10.31

(2.12–50.13)

Age; Ethnicity; History of second malignancy; Family history of breast carcinoma; Stage and Type of surgery

7

7

Melissa C Southey. et al. (2016, Australia) [30]]

Participants were drawn from studies participating in The Breast Cancer Association Consortium (BCAC)

All age

Total 848,355

(Case 42,671)

Control42164)

c.7271 T > G

p.Val2424Gly

OR: 11.6

(1.50 to 89.9)

-.

666

6

Philip Bretsky. et al. (2003, California)

Participants were recruited between 1993 and 1996

45–75 years

Total (854)

(Case 428)

Control 426)

L546V

OR: 3.35

(1.27–8.84)

Age, Ethnicity, family history of breast cancer

6

6

J.L Bernstein et al. (2006, the San Francisco, California; Ontario, Canada, Melbourne, Sydney and Australia) [9]

Diagnosed between 1995 and 1998 were identified

All age

Total (5011)

Case (3743)

Control (1268)

c.7271 T > G

Heterozygous

OR: 8.6

(3.9–18.9)

Age

7

7

c.1066–6 T > G

Heterozygous

OR: 0.4

(0.2–1.0)

Hong Ding. et al. (2010, China)

There were six studies of population-based design and five studies of hospital-based design

All age

Total (13788)

Case (8831)

Control (4957)

C.1066-6 T < G

OR: 0.87

(0.55–1.37)

–

77

7

Teresa Tapia. et al. (Chile 2007,)

Sample was obtained from a blood bank, Santiago, Chile.

All age

Total (294)

Case (94)

Control (200)

c. 2572 T > C,

(p. F858L)

0.53 OR:

0.07–3.55))

–

7

7

7

8

8

8

7

7

6

c.1744 T > C,

(p. F582L)

(20.3–0.92) 4.32

T > C2119

(p.S707P)

(1.63–0.04) 0.26

IVS24-9delT

(3.05–0.99) 1.74

IVS38–8 T > C

(2.05–0.45) 0.96

c.5557 G > A, p.D1853N

(4.77–1.33) 2.52

IVS38–8 T > C, c.5557G > A

(4.64–0.51) 1.53

IVS24-9delT and c.5557G > A ((p.D1853N

(8.40–1.87) 3.97

Brennan Decker. et al. (2017,UK)

A population-based study of breast cancer (BC) in the region of East Anglia (UK)

All age

Total (18575)

Case (13087)

Control (5488)

c.7390 T > C (p.Cys2464Arg, rs55801750,

OR: 0.37

(0.19–0.73)

Gene length, with approximately

60 variants per kilobase of coding sequence

7

Deborah Thompson; et al.(19) (2005,Australia) [20]

case-control-family study which recruited subjects between 1992 and 1999 from metropolitan Melbourne and Sydney, Australia

To age 70

Total (1153)

Case (775)

Control (378)

c.1066-6 T > G (IVS10-6 T > G)

HR: 3.4

(0.80–11.0)

–

7

Total (457)

Case (84) Control (373)

c.4258C > T (p.Leu1420Phe)

HR: 0.8

(0.3 to 1.8)

Csilla I. Szabo. et al. (2004, Austria)

All families were originally referred to clinics for medical care and were later selected for research purposes for including at least two cases of invasive breast cancer in first- or second-degree relatives.

before age 60 years

Total (1715)

Case (1172):

961 FH (non-BRCA1/2) cases and 211 FH (BRCA1/2) cases)

Control (543)

IVS10–6TG

OR: 1.60

(0.48–5.35)

Sample that did not carry a pathogenic mutation of the BRCA1 or BRCA2genes

8

Denise L. Stredrick. et al. (2006, USA and Poland)

The study of ATM was initiated in a nested breast cancer case–control study within the U.S. Radiologic Technologist (USRT) cohort study, Blood samples were collected between 1999 and 2004

And

The second study is a case–control investigation of breast cancer conducted in Poland from 2000 to 2003

All age

(USRT)

1048 control Case 861

(Poland)

3037 cases and 3639 control

(c.146C > G, p.S49C)

Poland, OR:

1.88 (1.17–3.02)

USRT, OR:

1.60 (0.88–2.90)

Combined, OR:

1.69 (1.19–2.40)

Study group

(USRTor Poland)

and

Age

(below 50, 50^59, 60^69, 70+ years)

8

S707P

Poland, OR:

1.25 (0.80–1.94)

USRT, OR:

0.47 (0.23–0.93)

Combined, OR:

0.92 (0.65–1.32)

F858L

Poland, OR:

1.12 (0.67–1.86)

USRT, OR:

2.03 (1.05–3.90)

Combined, OR:

1.44 (0.98–2.11)

P1526P

Poland, OR:

1.02 (0.86–1.22)

USRT, OR:

0.75 (0.49–1.13)

Combined, OR:

0.93 (0.79–1.09)

Jonine L. Bernstein (2017, USA)

All women in the WECARE Study were interviewed and complete medical treatment history information was collected

All age

Total (2107)

Control (1399)

)708(case

c.1899-55 T > G

Relative risk (RR):

0.5 (0.3–0.8)

- unilateral breast cancer (UBC)

8

c.3161C > G

0.5 (0.3–0.9)

c.6348-54 T > C

0.2 (0.1–0.8)

c.5558A > T

0.2 (0.1–0.6)

T. Stankovic, et al. (1998, British)

Lymphoblastic cell lines (LCLs) from 78 patients in 68 A-T families

All age

Total (603)

Controls (202)

Case (401)

c.7271 T > G

(Relative risk: 12.7)

–

7

Patricio González-Hormazábal. (2008, South American (Chili))

Chilean families were selected from the files of the Metropolitan Santiago National Health Service, National Cancer Society

All age

Total (326)

Case (126)

Control (200)

IVS24-9delT, IVS38–8 T > C, 5557G > A

T/(−T), T/T, G/A

OR: 1.31 [0.63–2.66]

BRCA1/2 negative breast cancer cases and controls.

6

T(/−T), T/C, G/A

OR: 3.19 [1.16–8.89]

IVS24-9delT, 5557G > A

T/(−T), G/A

OR: 1.74 [0.96–3.16]

IVS38–8 T > C, 5557G > A

T/T, G/A

OR: 1.31 [0.63–2.66]

T/C, G/A

OR: 1.31 [0.63–2.66]

IVS24-9delT, IVS38–8 T > C

T/(−T), T/T

OR: 1.31 [0.63–2.66]

T/(−T), T/C

OR: 3.19 [1.16–8.89]

G > A 5557

(G/A)

OR: 1.74 [0.96–3.16]

(A allele)

OR: 1.67 [0.94–2.92]

IVS38–8 T > C

(T/C)

OR: 3.09 [1.11–8.59]

(C allele)

OR: 3.00 [1.09–8.21]

IVS24-9delT

(T/−T)

OR: 1.74 [0.96–3.16]

(−T) allele

OR: 1.67 [0.94–2.92]

Johanna Tommiska. et al. (2006, Helsinki)

The familial breast cancer patients have been collected bya systematic interview for family history at the Helsinki University Central Hospital

All age

Total (1592)

Case (884)

Control (708)

ATMex39 D1853N

Unselected breast cancer patients

OR: 0.89 [0.72–1.09]

–

7

Familial breast cancer patients

OR: 0.89 [0.73–1.10]

Index with one affected first degree relative

OR: 0.85 [0.67–1.07]

Three or more affected in the family

OR: 0.98 [0.74–1.30]

Unselected breast cancer patients, Bilateral

OR: 0.60 [0.32–1.11]

Familial breast cancer patients, Bilateral

OR: 0.94 [0.59–1.49]

ATMivs38(−8)T > C

Unselected breast cancer patients

OR: 1.06 [0.69–1.64]

Familial breast cancer patients

OR: 1.32 [0.87–2.02]

Index with one affected first degree relative

OR: 1.47 [0.93–2.31]

Three or more affected in the family

OR: 1.08 [0.60–1.95]

Unselected breast cancer patients, Bilateral

OR: 1.43 [0.49–4.15]

Familial breast cancer patients, Bilateral

OR: 0.96 [0.40–2.32]

Amanda B Spurdle. et al. (2002, Australian)

Cases were women with a diagnosis of a first primary breast cancer identified and Controls were women without breast cancer selected from the electoral roll Using stratified random sampling, frequency-matched for age.

59

Total (3835)

cases (1300)

controls (600)

C2119

OR: 1.08 (0.59–1.97)

age, country of birth, state, education, marital status, number of live births, height, weight, age at menarche, oral contraceptive use, and reported family

8

G3161

OR: 1.30 (0.85–1.98)

Kirsi Määttä, et al. (Swede 2016,)

Hereditary breast and /or ovarian cancer (HBOC) families were used for whole exome sequencing.

All age

Total (1118)

Case (129)

Control (989)

c.2572T4C p.(F858L)))

0.75 (0.10–5.92)

BRCA1/2 founder variant-negative HBOC

7

7

c.3161C4G p.(P1054R)))

0.54 (0.07–4.13)

c.5558A4T p.(D1853V)))

1.54 (0.18–13.19)