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CHEK2 mutations and HNPCC-related colorectal cancer

✍ Scribed by Janina Suchy; Cezary Cybulski; Dominika Wokołorczyk; Oleg Oszurek; Bohdan Górski; Tadeusz Dębniak; Anna Jakubowska; Jacek Gronwald; Tomasz Huzarski; Tomasz Byrski; Ireneusz Dziuba; Marek Gogacz; Rafał Wiśniowski; Piotr Wandzel; Zbigniew Banaszkiewicz; Grzegorz Kurzawski; Józef Kładny; Steven A. Narod; Jan Lubiński

Publisher
John Wiley and Sons
Year
2010
Tongue
French
Weight
128 KB
Volume
126
Category
Article
ISSN
0020-7136

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✦ Synopsis

Abstract

Recently, the 1100delC variant of cell cycle checkpoint kinase 2 (CHEK2) has been reported to confer a colorectal cancer risk in hereditary non‐polyposis‐colorectal cancer (HNPCC) and HNPCC‐related families in the Netherlands. To investigate whether CHEK2 mutations confer increased cancer risk in HNPCC and HNPCC‐related families in Poland, we genotyped 463 probands from HNPCC and HNPCC‐related families, and 5,496 controls for 4 CHEK2 alleles (1100delC, IVS2+1G>A, del5395, I157T). All 463 probands were screened for mutations in the HNPCC‐related genes MSH2, MLH1 and MSH6. A positive association was observed for HNPCC‐related cancer and the I157T missense CHEK2 mutation (OR = 1.7; p = 0.007), but not for the truncating alleles (OR = 1.0; p = 1.0). The association with the I157T was seen both for the 117 cases who fulfill Amsterdam criteria (OR = 1.9; p = 0.1) and for the 346 cases who do not fulfill the criteria (OR = 1.6; p = 0.03). One hundred forty‐five of the 463 families had a mutation in MSH2, MLH1 or MSH6 (MMR‐positive families). A positive association between the CHEK2 I157T mutation and HNPCC‐related cancer was observed only for MMR‐negative cases (OR = 2.1; p = 0.0004), but not for MMR‐positive cases (OR = 0.8; p = 0.9). The association with I157T was particularly strong for MMR‐negative cases with familial colorectal cancer (2 or more first‐degree relatives affected) (OR = 2.5; p < 0.0001). We conclude that the I157T variant of CHEK2 increases the risk of colorectal cancer among MMR‐negative, HNPCC/HNPCC‐related families in Poland.

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