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  • RISK  (3)
  • GENOME-WIDE ASSOCIATION  (2)
Keywords
  • 1
    Keywords: CANCER ; CANCER CELLS ; CELLS ; tumor ; human ; NEW-YORK ; RISK ; GENE ; PROTEIN ; PROTEINS ; TUMORS ; COMPLEX ; COMPLEXES ; INFECTION ; RISK-FACTORS ; CARCINOGENESIS ; MUTATION ; cervical cancer ; CERVICAL-CANCER ; p53 ; CANCER-CELLS ; HPV ; DEGRADATION ; ONCOPROTEIN ; HUMAN-PAPILLOMAVIRUS TYPE-16 ; human papilloma virus ; TP53 ; CARCINOMA CELL-LINES ; E6 ONCOPROTEIN ; E6-mediated p53 inactivation ; E6AP ; HPV INFECTION ; MULTICENTRIC CASE-CONTROL ; P53 CODON- 72 POLYMORPHISM ; UBE3A
    Abstract: Functional loss of the tumor suppressor p53 by alterations in its TP53 gene is a frequent event in cancers of different anatomical regions. Cervical cancer is strongly linked to infection by high-risk human papillomavirus (HPV) types. The viral oncoprotein E6 has the ability to associate with and neutralize the function of p53. E6 interacts with a 100-kDa cellular protein, termed E6 associated protein (E6AP; also called ubiquitin-protein ligase E3A or UBE3A), which functions as an ubiquitin protein ligase. The dimeric complex then binds p53 and E6AP catalyzes multi-ubiquitination and degradation of p53. The ability to promote p53 degradation is an exclusive property of E6 from the high,risk HPV types. Indeed, the low- risk E6 proteins lack this activity, although they can bind p53. Consistent with the E6 function of the high-risk HPV types, the majority of cervical cancer cells have a wild type p53 gene, but the protein levels are strongly decreased. Several independent studies have shown that in a small percentage of cervical tumors the p53 gene is mutated. However, this event appears to be unrelated to the presence or absence of HPV infection and the nature of the tumor
    Type of Publication: Journal article published
    PubMed ID: 12619117
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  • 2
    Keywords: CANCER ; CELL ; COMMON ; LUNG-CANCER ; DISEASE ; POPULATION ; RISK ; RISKS ; GENE ; GENES ; GENOME ; GENETIC POLYMORPHISMS ; cell cycle ; CELL-CYCLE ; CYCLE ; ASSOCIATION ; polymorphism ; POLYMORPHISMS ; SUSCEPTIBILITY ; VARIANTS ; FREQUENCIES ; BREAST-CANCER ; genetics ; colorectal cancer ; COLORECTAL-CANCER ; CDKN2A ; ADENOCARCINOMAS ; TP53 ; RECTAL-CANCER ; VARIANT ; GENOTYPE ; HAPLOTYPES ; USA ; rectal cancer ; INCREASED RISK ; CANCERS ; Colorectal cancer susceptibility ; Haplotype analysis ; CRC ; CDKN1A ; P53 GENOTYPES ; WIDE ASSOCIATION SCAN
    Abstract: The Czech Republic has one of the highest incidences of colorectal cancer (CRC) in the world. To assess the role of genetic variants on the disease, we genotyped polymorphisms in the TP53 (rs17878362: A(1)〉A(2), rs1042522:G〉C, rs12947788: C〉T, and rs17884306:G〉A), CDKN1A (rs1801270: C〉A and rs1059234:C〉T), and CDKN2A (rs3731249:G〉A, rs11515:C〉G, and rs3088440: C〉T) genes in 614 hospital-based CRC cases and 614 matched controls from the country. Despite the tendency toward differential distribution of variant allele frequencies for some polymorphisms, none was significantly associated with CRC risk. We observed differential distribution of major haplotypes arising from four polymorphisms ill the TP53 gene between cases and controls (global P〈0.0001). The two most common haplotypes, A(1)GCG and A(2)CCG, were present in 81% of the cases compared to 71% of the controls. In comparison to the most common haplotype (A(1)GCG), the haplotype A2CCG was associated with an increased risk (odds ratio (OR], 1.40; 95% confidence interval [CI], 1.07-1.82), while the four other haplotypes A(1)CCG (OR, 0.60; 95% CI, 0.45-0.79), A(2)GCG (OR, 0.53; 95% CI, 0.35-0.81), A(1)GTG (OR, 0.31; 95% CI, 0.15-0.64), and A(1)GCA (OR, 0.19; 95% CI, 0.07-0.51) were associated with a decreased risk. The effect of haplotypes in the TP53 gene was similar in colon (global P 〈 0.000 1) and rectal cancers (P = 0.006). No association with the disease was observed with haplotypes of the CDKN1A and CDKN2A polymorphisms. The results from this study suggest that prevalent haplotypes within the TP53 gene may modulate CRC risks in the population. Hum Mutat 30, 661-668, 2009. (C) 2009 Wiley-Liss, Inc
    Type of Publication: Journal article published
    PubMed ID: 19224585
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  • 3
    Keywords: POLYMORPHISMS ; OVARIAN-CANCER ; risk factors ; SINGLE-NUCLEOTIDE POLYMORPHISMS ; breast cancer susceptibility ; GENOME-WIDE ASSOCIATION ; REPAIR GENES ; CONFER SUSCEPTIBILITY ; COMMON VARIANTS ; TUMOR CHARACTERISTICS ; BRCA1 MUTATIONS ; 11Q13 ; FAMILY REGISTRY ; IDENTIFIES 5 ; hormone receptor status
    Abstract: A recent two-stage genome-wide association study (GWAS) identified five novel breast cancer susceptibility loci on chromosomes 9, 10, and 11. To provide more reliable estimates of the relative risk associated with these loci and investigate possible heterogeneity by subtype of breast cancer, we genotyped the variants rs2380205, rs1011970, rs704010, rs614367, and rs10995190 in 39 studies from the Breast Cancer Association Consortium (BCAC), involving 49,608 cases and 48,772 controls of predominantly European ancestry. Four of the variants showed clear evidence of association (P = 3 X 10-9) and weak evidence was observed for rs2380205 (P = 0.06). The strongest evidence was obtained for rs614367, located on 11q13 (per-allele odds ratio 1.21, P = 4 X 10-39). The association for rs614367 was specific to estrogen receptor (ER)-positive disease and strongest for ER plus progesterone receptor (PR)-positive breast cancer, whereas the associations for the other three loci did not differ by tumor subtype.
    Type of Publication: Journal article published
    PubMed ID: 22461340
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  • 4
    Keywords: CANCER ; DISEASE ; RISK ; COMPLEX ; COMPLEXES ; SUSCEPTIBILITY ; VARIANTS ; COMMON DISEASES ; GENOME-WIDE ASSOCIATION ; MACULAR DEGENERATION ; CROHN-DISEASE
    Type of Publication: Journal article published
    PubMed ID: 21031564
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