title: Association of APC and MCC polymorphisms with increased breast cancer risk in an Indian population.
abstract: The adenomatous polyposis coli (APC) and mutated in colorectal cancer (MCC) genes are key regulatory genes of the Wnt/β-catenin signaling pathway, which are independently involved in maintaining low levels of β-catenin in the cell. In addition to genetic and epigenetic alterations, some genetic polymorphisms in the genes associated with the Wnt signaling pathway have been reported to be associated with an increased risk of cancer, including breast cancer. In the present study we analyzed the association of genotype and haplotype status of two single nucleotide polymorphisms (SNPs), rs2229992 and rs11283943, in the APC and MCC genes, respectively, with an increased risk of breast carcinogenesis in a breast cancer and control population from eastern India. We observed a significant association of the rs11283943 SNP with increased breast cancer risk. Two specific haplotypes involving the minor allele of rs11283943 were found to be associated with an increased breast cancer risk. Kaplan-Meier curves showed a significant association of the 2-2 genotype (genotype homozygous for the rs11283943 minor allele) with decreased survival (p=0.045) of the breast cancer patients in our study, in particular patients with early-onset BC.
authors.affiliation: Department of Oncogene Regulation, Chittaranjan National Cancer Institute, Kolkata, India.
authors.forename: Nupur
authors.initials: N
authors.lastname: Mukherjee
authors.forename: Nilanjana
authors.initials: N
authors.lastname: Bhattacharya
authors.forename: Satyabrata
authors.initials: S
authors.lastname: Sinha
authors.forename: Neyaz
authors.initials: N
authors.lastname: Alam
authors.forename: Runu
authors.initials: R
authors.lastname: Chakravarti
authors.forename: Susanta
authors.initials: S
authors.lastname: Roychoudhury
authors.forename: Chinmay Kumar
authors.initials: CK
authors.lastname: Panda
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000483:Alleles; D014408:Biomarkers, Tumor / Q000235:genetics*; D001943:Breast Neoplasms / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D017491:Genes, APC; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D007194:India; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012306:Risk; D015398:Signal Transduction; D013534:Survival; D025521:Tumor Suppressor Proteins / Q000235:genetics*; D051153:Wnt Proteins / Q000235:genetics; D051176:beta Catenin / Q000235:genetics / Q000378:metabolism
chemical_list: D014408:Biomarkers, Tumor; D025521:Tumor Suppressor Proteins; D051153:Wnt Proteins; D051176:beta Catenin; C067857:MCC protein, human