Heterozygous carriers of the I171V mutation of the NBS1 gene have a significantly increased risk of solid malignant tumours

Heterozygous carriers of the I171V mutation of the NBS1 gene have a significantly increased risk of solid malignant tumours

Abstract Homozygous mutation 657del5 within the NBS1 gene is responsible for the majority of Nijmegen breakage syndrome (NBS) cases. NBS patients are characterised by increased susceptibility to malignancies mainly of lymphoid origin. Recently it has been postulated that heterozygous carriers of 657...

Full description

Saved in:
Bibliographic Details
Published in:European journal of cancer (1990) Vol. 44; no. 4; pp. 627 - 630
Main Authors: Nowak, Jerzy, Mosor, Maria, Ziółkowska, Iwona, Wierzbicka, Malgorzta, Pernak-Schwarz, Monika, Przyborska, Marta, Rożnowski, Krzysztof, Pławski, Andrzej, Słomski, Ryszard, Januszkiewicz, Danuta
Format: Journal Article
Language:English
Published: Oxford Elsevier Ltd 01-03-2008
Elsevier
Subjects:
Adult
Aged
Aged, 80 and over
Biological and medical sciences
Cancer predisposition
Cell Cycle Proteins - genetics
Female
Genetic Predisposition to Disease - genetics
Hematology, Oncology and Palliative Medicine
Heterozygote
Humans
I171V mutation
Male
Medical sciences
Middle Aged
Multiple tumors. Solid tumors. Tumors in childhood (general aspects)
Mutation - genetics
NBS1 gene
Neoplasms - genetics
Nuclear Proteins - genetics
Pharmacology. Drug treatments
Risk Factors
Tumors
I171V mutation
Cancer predisposition
NBS1 gene
Solid tumor
Pharmacology
Malignant tumor
Epidemiology
Heterozygosity
Cancerology
Predisposition
Genetics
Mutation
Cancer
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Abstract Homozygous mutation 657del5 within the NBS1 gene is responsible for the majority of Nijmegen breakage syndrome (NBS) cases. NBS patients are characterised by increased susceptibility to malignancies mainly of lymphoid origin. Recently it has been postulated that heterozygous carriers of 657del5 NBS1 mutation are at higher risk of cancer development. The aim of the study was to analyse the frequency of I171V mutation in NBS1 gene in 270 women with breast cancer, 176 patients with larynx cancer, 81 with second primary tumours of head and neck, 131 with colorectal carcinoma and 600 healthy individuals. I171V mutation was present in 17 cancer patients compared with only one in healthy individuals. This constitutes 2.58% in studied patients with malignancies and 0.17% in the control group ( P = 0.0002; relative risk 1.827; odds ratio 15.886; 95% confidence interval 2.107–119.8). Since DNA was isolated from non malignant cells, all mutations found in cancer patients appeared to be of germinal origin. It can be concluded that NBS1 allele I171V may be a general susceptibility gene in solid tumours.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
ISSN:0959-8049
1879-0852
DOI:10.1016/j.ejca.2008.01.006