𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Colorectal cancer and the CHEK2 1100delC mutation

✍ Scribed by Mirjam M. de Jong; Ilja M. Nolte; Gerard J. te Meerman; Winette T. A. van der Graaf; Marcel J. Mulder; Gerrit van der Steege; Marcel Bruinenberg; Michael Schaapveld; Renée C. Niessen; Maran J. W. Berends; Rolf H. Sijmons; Robert M. W. Hofstra; Elisabeth G. E. de Vries; Jan H. Kleibeuker

Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
82 KB
Volume
43
Category
Article
ISSN
1045-2257

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

The CHEK2 1100delC mutation was recently identified as a low‐penetrance breast cancer susceptibility allele. The mutation occurred more frequently in families with clustering of breast and colorectal cancers (CRCs) than in families with clustering of breast cancer only. Hence, the 1100delC mutation could also be a low‐penetrance CRC susceptibility allele. To test this hypothesis, we examined the mutation in 629 unselected CRC cases, 230 controls, and 105 selected CRCs diagnosed in patients before age 50. The mutation was observed in 1.6% of unselected patients and in 0.3% of controls (Not significant (NS)). After stratifying unselected patients according to defined genetic risk (on the basis of age at diagnosis and family history of colorectal and endometrial cancer), the highest frequency was observed in high‐risk patients (12.5%), followed by moderate‐risk patients (3.3%), and was lowest in low‐risk patients (1.0%, P~trend~ 0.014). In selected patients, 1.6% carried the mutation (NS). Subgroup analyses for tumor localization, gender, and age at diagnosis did not reveal an association with the 1100delC genotype. In addition, a pooled analysis, combining data of one published study in unselected CRC cases and our study, also did not reveal an association. In conclusion, the frequency of the 1100delC genotype was neither significantly increased in unselected CRC patients nor in selected CRC patients diagnosed before age 50. However, after stratifying unselected CRC patients according to defined genetic risk, a significant trend of increasing frequency was observed. Together, the results are consistent with a low‐penetrance effect (OR 1.5–2.0) of the CHEK2 1100delC on CRC risk. Large case–control studies are required to clarify the exact role of the CHEK2 1100delC mutation in CRC. © 2005 Wiley‐Liss, Inc.

📜 SIMILAR VOLUMES

CHEK2*1100delC and male breast cancer ri
CHEK2*1100delC and male breast cancer risk in Israel
✍ Tal Ohayon; Inbar Gal; Ruth Gershoni Baruch; Csilla Szabo; Eitan Friedman 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 French ⚖ 49 KB

## Dear Sir, Fewer than 1% of all breast cancers occur in males. 1 Known risk factors for male breast cancer primarily include Klinefelter syndrome and other clinical conditions associated with aberrant hormonal status (e.g., benign breast disease and gynecomastia, liver cirrhosis, estrogen therap

CHEK2 mutations and HNPCC-related colore
CHEK2 mutations and HNPCC-related colorectal cancer
✍ Janina Suchy; Cezary Cybulski; Dominika Wokołorczyk; Oleg Oszurek; Bohdan Górski 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 French ⚖ 128 KB

## 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 canc

CHEK2 1100delC is not a risk factor for
CHEK2 1100delC is not a risk factor for male breast cancer population
✍ Kirsi Syrjäkoski; Tuula Kuukasjärvi; Anssi Auvinen; Olli-P Kallioniemi 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 French ⚖ 50 KB

## Abstract Genetic risk factors for male breast cancer (MBC) are poorly understood. High penetrance genes such as BRCA1 or BRCA2 account for only a small proportion of the disease. A 1100delC mutation in CHEK2 (previously known as CHK2), a cell‐cycle checkpoint kinase, has been implicated in predi

Correlation of CHEK2 protein expression
Correlation of CHEK2 protein expression and c.1100delC mutation status with tumor characteristics among unselected breast cancer patients
✍ Outi Kilpivaara; Jirina Bartkova; Hannaleena Eerola; Kirsi Syrjäkoski; Pia Vahte 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 French ⚖ 145 KB

The CHEK2 kinase is a tumor suppressor whose activation in response to DNA double-strand breaks contributes to cell cycle arrest or apoptosis. The c.1100delC mutation is associated with familial breast cancer, and tumors from mutation carriers show reduced or absent CHEK2 protein expression. We have