CHEK2 1100delC variant and breast cancer risk in caucasians: A meta-analysis based on 25 studies with 29,154 cases and 37,064 controls

Asian Pacific Journal of Cancer Prevention

Volumn 13, Issue 7, 2012, Pages 3501-3505

  Yang, Yuan ^a   Zhang, Fan ^b   Wang, Yang ^b   Liu, Sheng Chun ^a  

^a CHONGQING MEDICAL UNIVERSITY   (China)

^b School of Public Health   (China)

Author keywords

1100delC variant; Breast cancer; CHEK2; Meta analysis

Indexed keywords

EID: 84873607727     PISSN: 15137368     EISSN: 2476762X     Source Type: Journal    
DOI: 10.7314/APJCP.2012.13.7.3501     Document Type: Article

References (35)

1. Baeyens A, Claes K, Willems P, et al (2005). Chromosomal radiosensitivity of breast cancer with a CHEK2 mutation. Cancer Genet Cytogenet, 163, 106-12.
2. Baig RM, Mahjabeen I, Sabir M, et al (2011). Genetic changes in the PTEN gene and their association with breast cancer in Pakistan. Asian Pac J Cancer Prev, 12, 2773-8.
3. Bell DW, Kim SH, Godwin AK, et al (2007). Genetic and functional analysis of CHEK2 (CHK2) variants in multiethnic cohorts. Int J Cancer, 121, 2661-7.
4. Bell DW, Varley JM, Szydlo TE, et al (1999). Heterozygous germ line hCHEK2 mutations in Li-Fraumeni syndrome. Science, 286, 2528-31.
5. Bernstein JL, Teraoka SN, John EM, et al (2006). The CHEK2*1100delC allelic variant and risk of breast cancer: Screening results from the Breast Cancer Family Registry. Cancer Epidemiol Biomarkers Prev, 15, 348-52.
6. CHEK2 Breast Cancer Consortium (2004). CHEK2*1100delC and susceptibility to breast cancer: A collaborative analysis involving 10,860 breast cancer patient cases and 9,065 controls from 10 studies. Am J Hum Genet, 74, 1175-82.
7. Chen S, Parmigiani G (2007). Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol, 25, 1329-33.
8. Choi DH, Cho DY, Lee MH, et al (2008). The CHEK2 1100delC mutation is not present in Korean patients with breast cancer cases tested for BRCA1 and BRCA2 mutation. Breast Cancer Res Treat, 112, 569-73.
9. Cybulski C, Wokołorczyk D, Huzarski T, et al (2007). A deletion in CHEK2 of 5,395 bp predisposes to breast cancer in Poland. Breast Cancer Res Treat, 102, 119-22.
10. Dufault MR, Betz B, Wappenschmidt B, et al (2004). Limited relevance of the CHEK2 gene in hereditary breast cancer. Int J Cancer, 110, 320-5.
11. Einarsdóttir K, Humphreys K, Bonnard C, et al (2006). Linkage disequilibrium mapping of CHEK2: Common variation and breast cancer risk. PLoS Med, 3, e168.
12. Fletcher O, Johnson N, Dos Santos Silva I, et al (2009). Family History, Genetic Testing, and Clinical Risk Prediction: Pooled Analysis of CHEK2*1100delC in 1,828 Bilateral Breast Cancers and 7,030 Controls. Cancer Epidemiol Biomarkers Prev, 18, 230-4.
13. Friedrichsen DM, Malone KE, Doody DR, et al (2004). Frequency of CHEK2 mutations in a population based, patient case-control study of breast cancer in young women. Breast Cancer Res, 6, R629-35.
14. Iniesta MD, Gorin MA, Chien LC, et al (2010). Absence of CHEK2*1100delC mutation in families with hereditary breast cancer in North America. Cancer Genet Cytogenet, 202, 136-40.
15. Kleibl Z, Novotny J, Bezdickova D, et al (2005). The CHEK2 c. 1100delC germline mutation rarely contributes to breast cancer development in the Czech Republic. Breast Cancer Res Treat, 90, 165-7.
16. Lee AS, Ang P (2008). CHEK2*1100delC screening of Asian women with a family history of breast cancer is unwarranted. J Clin Oncol, 26, 2419 (author reply 2419-20).
17. Mateus Pereira LH, Sigurdson AJ, Doody MM, et al (2004). CHEK2:1100delC and female breast cancer in the United States. Int J Cancer, 112, 541-3.
18. McInerney NM, Miller N, Rowan A, et al (2010). Evaluation of variants in the CHEK2, BRIP1 and PALB2 genes in an Irish breast cancer cohort. Breast Cancer Res Treat, 121, 203-10.
19. Meijers-Heijboer H, van den Ouweland A, Klijn J, et al (2002). Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet, 31, 55-9.
20. Miki Y, Swensen J, Shattuck-Eidens D, et al (1994). A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science, 266, 66-71.
21. Offit K, Pierce H, Kirchhoff T, et al (2003). Frequency of CHEK2*1100delC in New York breast cancer cases and controls. BMC Med Genet, 4, 1.
22. Overton, Randall C (1998). A comparison of fixed-effects and mixed (random-effects) models for meta-analysis tests of moderator variable effects. Psychological Methods, 3, 354-79.
23. Rajkumar T, Soumittra N, Nancy NK, et al (2003). BRCA1, BRCA2 and CHEK2 (1100 del C) germline mutations in hereditary breast and ovarian cancer families in South India. Asian Pac J Cancer Prev, 4, 203-8.
24. Rashid MU, Jakubowska A, Justenhoven C, et al (2005). German populations with infrequent CHEK2*1100delC and minor associations with early-onset and familial breast cancer. Eur J Cancer, 41, 2896-903.
25. Shih HA, Couch FJ, Nathanson KL, et al (2002). BRCA1 and BRCA2 mutation frequency in women evaluated in a breast cancer risk evaluation clinic. J Clin Oncol, 20, 994-9.
26. Sodha N, Bullock S, Taylor R, et al (2002). CHEK2 variants in susceptibility to breast cancer and evidence of retention of the wild type allele in tumours. Br J Cancer, 87, 1445-8.
27. Song CG, Hu Z, Yuan WT, et al (2006). CHEK2 c. 1100delC may not contribute to genetic background of hereditary breast cancer from Shanghai of China. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 23, 443-5. (In Chinese)
28. Thirthagiri E, Cheong LS, Yip CH, et al (2009). CHEK2*1100delC does not contribute to risk to breast cancer among Malay, Chinese and Indians in Malaysia. Fam Cancer, 8, 355-8.
29. Vahteristo P, Bartkova J, Eerola H, et al (2002). A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer. Am J Hum Genet, 71, 432-8.
30. Weischer M, Bojesen SE, Ellervik C, et al (2008). CHEK2*1100delC Genotyping for Clinical Assessment of Breast Cancer Risk: Meta-Analyses of 26,000 Patient Cases and 27,000 Controls. J Clin Oncol, 26, 542-8.
31. Weischer M, Bojesen SE, Tybjaerg-Hansen A, et al (2007). Increased risk of breast cancer associated with CHEK2*1100delC. J Clin Oncol, 25, 57-63.
32. Wooster R, Bignell G, Lancaster J, et al (1995). Identification of the breast cancer susceptibility gene BRCA2. Nature, 378, 789-92.
33. World Cancer Report (2008). International Agency for Research on Cancer. Available at: http://globocan.iarc.fr/factsheets/ populations/factsheet.asp? uno=900.
34. Zhang B, Beeghly-Fadiel A, Long J, and Zheng W (2011). Genetic variants associated with breast-cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence. Lancet Oncol, 12, 477-88.
35. Zhang S, Phelan CM, Zhang P, et al (2008). Frequency of the CHEK2 1100delC Mutation among Women with Breast Cancer: An International Study. Cancer Res, 68, 2154-7.