A rare truncating BRCA2 variant and genetic susceptibility to upper aerodigestive tract cancer

. 2015 May ; 107 (5) : . [epub] 20150402

Jazyk angličtina Země Spojené státy americké Médium electronic-print

Typ dokumentu časopisecké články, Research Support, N.I.H., Extramural

Perzistentní odkaz   https://www.medvik.cz/link/pmid25838448

Grantová podpora
001 World Health Organization - International
R01CA092039 05/05S1 NCI NIH HHS - United States
1R03DE020116 NIDCR NIH HHS - United States

Deleterious BRCA2 genetic variants markedly increase risk of developing breast cancer. A rare truncating BRCA2 genetic variant, rs11571833 (K3326X), has been associated with a 2.5-fold risk of lung squamous cell carcinoma but only a modest 26% increase in breast cancer risk. We analyzed the association between BRCA2 SNP rs11571833 and upper aerodigestive tract (UADT) cancer risk with multivariable unconditional logistic regression adjusted by sex and combinations of study and country for 5942 UADT squamous cell carcinoma case patients and 8086 control patients from nine different studies. All statistical tests were two-sided. rs11571833 was associated with UADT cancers (odds ratio = 2.53, 95% confidence interval = 1.89 to 3.38, P = 3x10(-10)) and was present in European, Latin American, and Indian populations but extremely rare in Japanese populations. The association appeared more apparent in smokers (current or former) compared with never smokers (P het = .026). A robust association between a truncating BRCA2 variant and UADT cancer risk suggests that treatment strategies orientated towards BRCA2 mutations may warrant further investigation in UADT tumors.

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