Back to Search
Start Over
Genetic variations in EGFR and ERBB4 increase susceptibility to cervical cancer
- Source :
- Gynecologic Oncology. 131:445-450
- Publication Year :
- 2013
- Publisher :
- Elsevier BV, 2013.
-
Abstract
- Inherited genetic variability contributes to susceptibility to cervical cancer. We investigated the association of single nucleotide polymorphisms (SNPs) in the human epidermal growth factor receptor (ERBB) family with cervical cancer.We used the transmission disequilibrium test (TDT) to look for excessive transmission of tag single nucleotide polymorphisms (tSNPs) in ERBB family members EGFR, ERBB2, ERBB3, and ERBB4 in a large sample of women with invasive and in situ cervical cancer and their biological parents (628 trios). The study used a discovery set of trios (244) analyzed by Illumina GoldenGate in which SNPs reaching a P.05 were re-tested by TaqMan in the combined set of 628. We also explored collaborative effects of different ERBB alleles.Based on single SNP TDT tests we identified 16 significant SNPs in the discover stage and six of 14 SNPs that could be assayed by TaqMan were significantly overtransmitted in women with cervical cancer in the combined replication set. Four SNPs were located in intron 1 of EGFR and two SNPs in intron 24 of ERBB4. The EGFR variants are located near multiple enhancers, silencers, and the previously identified functional common polymorphisms in intron 1.Our data provide evidence for the involvement of intron 1 EGFR variants and intron 24 ERBB4 variants in modulating risk for the development of in situ and invasive cervical cancer. These variants should be examined in additional populations and functional studies would be needed to confirm this hypothesis.
- Subjects :
- Adult
Receptor, ErbB-4
Genotype
Uterine Cervical Neoplasms
Single-nucleotide polymorphism
Biology
Polymorphism, Single Nucleotide
Article
Linkage Disequilibrium
ErbB
medicine
Humans
SNP
ERBB3
ERBB4
Cervical cancer
Genetics
Obstetrics and Gynecology
Transmission disequilibrium test
medicine.disease
Introns
SNP genotyping
ErbB Receptors
Oncology
Carcinoma, Squamous Cell
Cancer research
Female
Carcinoma in Situ
Subjects
Details
- ISSN :
- 00908258
- Volume :
- 131
- Database :
- OpenAIRE
- Journal :
- Gynecologic Oncology
- Accession number :
- edsair.doi.dedup.....19c16a8486c001cabfc515769c6fc82f