Authors (years) (country) | Study population | Age | Sample size | Type of variant | Measurement of association | Controlled variables | NOS Score |
---|---|---|---|---|---|---|---|
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) |