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In Reply

Herlev Hospital, Copenhagen University Hospital, Herlev, Denmark

We thank Drs Lee and Ang for their comments on our recent meta-analysis, where we tested the association of CHEK2*1100delC heterozygosity and risk of breast cancer among women of Northern- and Eastern European descent.¹ Apart from those studies included in our meta-analysis, the frequency has been determined in 17 other studies (Table 1).^2-18 Studies in Asian patients with breast cancer have not reported any CHEK2*1100delC carriers, and thus no association between the variant and risk of breast cancer has been established, as pointed out by Drs Lee and Ang. The CHEK2*1100delC carrier frequencies vary between 0% and 1% among patients with breast cancer from these studies, with the highest prevalence in Russian patients.⁷ The absence or rarity of the CHEK2*1100delC heterozygosity among patients with breast cancer in these populations underlines the importance of considering ethnic background before offering a genetic test. We agree with Drs Lee and Ang that indeed, genetic testing for CHEK2*1100delC is only warranted in women of Northern and Eastern European descent. In these women CHEK2*1100delC heterozygosity is an important breast cancer risk factor, a predictor of adverse prognosis, and of poorer survival.^1,19 In the relevant populations, CHEK2*1100delC genotyping should therefore be offered to all women with familial history of breast cancer and to women with breast cancer.

The author(s) indicated no potential conflicts of interest.

REFERENCES

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13. Martinez-Bouzas C, Beristain E, Guerra I, et al: CHEK2 1100delC is present in familial breast cancer cases of the Basque Country. Breast Cancer Res Treat 103:111-113, 2007[CrossRef][Medline]

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16. Rajkumar T, Soumittra N, Nancy NK, et al: BRCA1, BRCA2 and CHEK2 (1100 del C) germline mutations in hereditary breast and ovarian cancer families in South India Asian Pac. J Cancer Prev 4:203-208, 2003

17. Song CG, Hu Z, Yuan WT, et al: 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 23:443-445, 2006[Medline]

18. The CHEK2 Breast Cancer Consortium: CHEK2*1100delC and susceptibility to breast cancer: A collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies. Am J Hum Genet 74:1175-1182, 2004[CrossRef][Medline]

19. Schmidt MK, Tollenaar RA, de Kemp SR, et al: Breast cancer survival and tumor characteristics in premenopausal women carrying the CHEK2*1100delC germline mutation. J Clin Oncol 25:64-69, 2007[Abstract/Free Full Text]

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Related Correspondence

• CHEK2*1100delC Screening of Asian Women With a Family History of Breast Cancer Is Unwarranted
  Ann S.G. Lee and Peter Ang
  JCO 2008 26: 2419 [Full Text]

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