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CHEK2
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References
These sources were used to develop the Genetics Home Reference
gene summary
on the
CHEK2
gene.
Ahn J, Urist M, Prives C. The Chk2 protein kinase. DNA Repair (Amst). 2004 Aug-Sep;3(8-9):1039-47. Review.
PubMed citation
Bell DW, Varley JM, Szydlo TE, Kang DH, Wahrer DC, Shannon KE, Lubratovich M, Verselis SJ, Isselbacher KJ, Fraumeni JF, Birch JM, Li FP, Garber JE, Haber DA. Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome. Science. 1999 Dec 24;286(5449):2528-31.
PubMed citation
CHEK2 Breast Cancer Case-Control 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. 2004 Jun;74(6):1175-82. Epub 2004 Apr 30.
PubMed citation
Cybulski C, Górski B, Huzarski T, Masojć B, Mierzejewski M, Debniak T, Teodorczyk U, Byrski T, Gronwald J, Matyjasik J, Zlowocka E, Lenner M, Grabowska E, Nej K, Castaneda J, Medrek K, Szymańska A, Szymańska J, Kurzawski G, Suchy J, Oszurek O, Witek A, Narod SA, Lubiński J. CHEK2 is a multiorgan cancer susceptibility gene. Am J Hum Genet. 2004 Dec;75(6):1131-5. Epub 2004 Oct 18.
PubMed citation
Entrez
Gene
Kilpivaara O, Alhopuro P, Vahteristo P, Aaltonen LA, Nevanlinna H. CHEK2 I157T associates with familial and sporadic colorectal cancer. J Med Genet. 2006 Jul;43(7):e34.
PubMed citation
Mateus Pereira LH, Sigurdson AJ, Doody MM, Pineda MA, Alexander BH, Greene MH, Struewing JP. CHEK2:1100delC and female breast cancer in the United States. Int J Cancer. 2004 Nov 10;112(3):541-3.
PubMed citation
Nevanlinna H, Bartek J. The CHEK2 gene and inherited breast cancer susceptibility. Oncogene. 2006 Sep 25;25(43):5912-9. Review.
PubMed citation
Sodha N, Houlston RS, Bullock S, Yuille MA, Chu C, Turner G, Eeles RA. Increasing evidence that germline mutations in CHEK2 do not cause Li-Fraumeni syndrome. Hum Mutat. 2002 Dec;20(6):460-2.
PubMed citation
Vahteristo P, Bartkova J, Eerola H, Syrjäkoski K, Ojala S, Kilpivaara O, Tamminen A, Kononen J, Aittomäki K, Heikkilä P, Holli K, Blomqvist C, Bartek J, Kallioniemi OP, Nevanlinna H. A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer. Am J Hum Genet. 2002 Aug;71(2):432-8. Epub 2002 Jul 28.
PubMed citation
Walsh T, Casadei S, Coats KH, Swisher E, Stray SM, Higgins J, Roach KC, Mandell J, Lee MK, Ciernikova S, Foretova L, Soucek P, King MC. Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. JAMA. 2006 Mar 22;295(12):1379-88.
PubMed citation
Wu X, Dong X, Liu W, Chen J. Characterization of CHEK2 mutations in prostate cancer. Hum Mutat. 2006 Aug;27(8):742-7.
PubMed citation
Reviewed: August 2007
Published: June 10, 2013