Heterozygous p.I171V mutation of the NBN gene as a risk factor for lung cancer development.
PBN-AR
Instytucja
Instytut Genetyki Człowieka Polskiej Akademii Nauk
Informacje podstawowe
Główny język publikacji
en
Czasopismo
Oncology Letters
ISSN
1792-1074
EISSN
1792-1082
Wydawca
SPANDIDOS PUBL LTD
DOI
URL
Rok publikacji
2015
Numer zeszytu
Strony od-do
3300-3304
Numer tomu
10
Identyfikator DOI
Liczba arkuszy
0,5
Słowa kluczowe
ang.
NBN gene
nibrin
p.I171V
lung cancer risk
Open access
Tryb otwartego dostępu
Inne
Wersja tekstu w otwartym dostępie
Wersja opublikowana
Licencja otwartego dostępu
Inna
Czas opublikowania w otwartym dostępie
Po publikacji
Ilość miesięcy od publikacji
2
Data udostępnienia w sposób otwarty
Streszczenia
Język
angielski
Treść
The NBN gene, also known as NBS1, is located on the chromosome band 8q21.3, and encodes a 754-amino acid-long protein named nibrin. This protein is a member of the MRE1-RAD50-NBN nuclear complex, and is involved in numerous cell processes essential for maintaining genomic stability. Heterozygous variants in the NBN gene, including p.I171V, c.657del5 and p.R215W, have been described as risk factors for the development of several malignancies. However, there is no report regarding the association of these mutations with lung cancer thus far. Therefore, the present study aimed to evaluate whether there is an association between the heterozygous p.I171V, c.657del5 and p.R215W variants of the NBN gene and the risk of developing lung cancer. The frequency of these variants was estimated in a group of 453 adults diagnosed with non-small cell lung cancer (NSCLC) and in healthy controls (2,400 for p.I171V, 2,090 for c.657del5 and 498 for p.R215W). The p.I171V variant was assessed by restriction fragment length polymorphism analysis of polymerase chain reaction (PCR) products, using MunI (MfeI) restriction enzyme, whereas the c.657del5 and p.R215W variants were assessed by the PCR single-strand conformation polymorphism method. A significantly increased risk of developing lung cancer was observed for the p.I171V variant, which was present in 17 (3.75%) of the 453 cases of lung cancer and in 12 (0.5%) of the 2,400 healthy individuals (odds ratio, 7.759; P<0.0001). The results obtained indicated an association between the p.I171V mutation and the development of lung cancer. Therefore, this variant may be considered a risk factor for NSCLC. Prospective studies with larger groups of patients may reveal the potential impact of the p.I171V variant in the occurrence of lung cancer.
Cechy publikacji
ORIGINAL_ARTICLE
Inne
System-identifier
645752
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