Familial breast cancer and the hCHK2 1100delC mutation: assessing cancer risk.
AffiliationCR-UK Department of Cancer Genetics, Paterson Institute for Cancer Research, Manchester, UK. email@example.com
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AbstractGermline mutations in the human checkpoint gene, hCHK2, were first identified in 1999 in cases of Li-Fraumeni syndrome. Recent studies have demonstrated that the hCHK2 1100delC mutation acts as a low-penetrance tumour suppressor gene in familial breast cancer not associated with mutations in BRCA1 or BRCA2. The present article describes the published studies on hCHK2 1100delC and addresses some of the key questions raised.
CitationFamilial breast cancer and the hCHK2 1100delC mutation: assessing cancer risk. 2003, 5 (3):123-5 Breast Cancer Res.
JournalBreast Cancer Research
- Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations.
- Authors: Meijers-Heijboer H, van den Ouweland A, Klijn J, Wasielewski M, de Snoo A, Oldenburg R, Hollestelle A, Houben M, Crepin E, van Veghel-Plandsoen M, Elstrodt F, van Duijn C, Bartels C, Meijers C, Schutte M, McGuffog L, Thompson D, Easton D, Sodha N, Seal S, Barfoot R, Mangion J, Chang-Claude J, Eccles D, Eeles R, Evans DG, Houlston R, Murday V, Narod S, Peretz T, Peto J, Phelan C, Zhang HX, Szabo C, Devilee P, Goldgar D, Futreal PA, Nathanson KL, Weber B, Rahman N, Stratton MR, CHEK2-Breast Cancer Consortium.
- Issue date: 2002 May
- [CHEK2 and breast cancer risk].
- Authors: Coupier I, Stoppa-Lyonnet D
- Issue date: 2002 Nov
- CHEK2 variants in susceptibility to breast cancer and evidence of retention of the wild type allele in tumours.
- Authors: Sodha N, Bullock S, Taylor R, Mitchell G, Guertl-Lackner B, Williams RD, Bevan S, Bishop K, McGuire S, Houlston RS, Eeles RA
- Issue date: 2002 Dec 2
- The CHEK2 1100delC mutation is not present in Korean patients with breast cancer cases tested for BRCA1 and BRCA2 mutation.
- Authors: Choi DH, Cho DY, Lee MH, Park HS, Ahn SH, Son BH, Haffty BG
- Issue date: 2008 Dec
- TP53, hChk2, and the Li-Fraumeni syndrome.
- Authors: Varley J
- Issue date: 2003