Localization of a novel susceptibility gene for familial ovarian cancer to chromosome 3p22-p25

Sekiguchi, Masayuki; Nagata, Hiroshi; Tsuji, Shoji; Hirai, Yasuo; Fujimoto, Seiichiro; Hatae, Masayuki; Kobayashi, Iwao; Fujii, Tsuneo; Nagata, Ichiro; Ushijima, Kimio; Obata, Koshiro; Suzuki, Mitsuaki; Yoshinaga, Mitsuhiro; Umesaki, Naohiko; Satoh, Shinji; Enomoto, Takayuki; Motoyama, Satoru; Tanaka, Kenichi

doi:10.1093/hmg/10.13.1421

Cited by 26 publications

(15 citation statements)

References 20 publications

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“…Importantly, some cases of familial ovarian cancer have been linked precisely to the region where FANCD2 resides in the human genome (Sekine et al 2001;Simsir et al 2001;Zhang and Xu 2002). Future studies of human patients with these disorders will be needed to determine whether FA genes play a role in sporadic or inherited human cancers.…”

Section: Fancd2 Brca2 and Carcinomasmentioning

confidence: 99%

Epithelial cancer in Fanconi anemia complementation group D2 (Fancd2) knockout mice

Houghtaling¹,

Timmers²,

Noll³

et al. 2003

Genes Dev.

270

298

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Fanconi anemia (FA) is a genetic disorder characterized by hypersensitivity to DNA damage, bone marrow failure, congenital defects, and cancer. To further investigate the in vivo function of the FA pathway, mice with a targeted deletion in the distally acting FA gene Fancd2 were created. Similar to human FA patients and other FA mouse models, Fancd2 mutant mice exhibited cellular sensitivity to DNA interstrand cross-links and germ cell loss. In addition, chromosome mispairing was seen in male meiosis. However, Fancd2 mutant mice also displayed phenotypes not observed in other mice with disruptions of proximal FA genes. These include microphthalmia, perinatal lethality, and epithelial cancers, similar to mice with Brca2/Fancd1 hypomorphic mutations. These additional phenotypes were not caused by defects in the ATM-mediated S-phase checkpoint, which was intact in primary Fancd2 mutant fibroblasts. The phenotypic overlap between Fancd2-null and Brca2/Fancd1 hypomorphic mice is consistent with a common function for both proteins in the same pathway, regulating genomic stability.[Keywords: Fanconi anemia; cancer; Fancd2; Brca2; DNA repair; chromosome pairing] Supplemental material is available at http://www.genesdev.org.

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Section: Fancd2 Brca2 and Carcinomasmentioning

confidence: 99%

Epithelial cancer in Fanconi anemia complementation group D2 (Fancd2) knockout mice

Houghtaling¹,

Timmers²,

Noll³

et al. 2003

Genes Dev.

270

298

View full text Add to dashboard Cite

show abstract

“…The remaining 5% to 10% are primarily associated with germline mutations of Breast Cancer 1 (BRCA1; 17q12-21) and BRCA2 (13q12-13) genes and account for 95% of hereditary ovarian carcinomas [1,2]. Studies to identify other chromosomal regions that might harbor major genes for ovarian cancer risk provide little evidence for the existence of additional high-risk genes for ovarian cancer susceptibility [3]. Thus, there is emerging consensus that most of the genetic component of ovarian cancer risk is due to genetic polymorphisms that confer low to moderate risk.…”

Section: Introductionmentioning

confidence: 99%

Polymorphisms in the MUC16 Gene: Potential Implication in Epithelial Ovarian Cancer

Bouanene

Kacem

Fatma

et al. 2010

Pathol. Oncol. Res.

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MUC16 plays an important role in epithelial ovarian cancer. In this paper, we studied the association between two tags SNPs of MUC16 and the risk of epithelial ovarian cancer. We aimed also to test the association between these tags SNPs and elevated level of the protein CA125. We analyzed a collection of 117 cases. Forty-one samples of patients with epithelial ovarian cancer and 76 samples from Tunisian volunteers were genotyped for two synonymous coding tags SNPs of the MUC16 gene (rs1596797, A/C and rs2547065, C/G) using polymerase chain reaction and sequencing. For the rs1596797 SNP, there was no significant difference in genotype distribution, a rare variation observed in only one patient. For the polymorphism rs2547065, mean CA125 levels were 24 and 78 UI/ml in patients with GG and GC genotypes versus 230 UI/ml in patients with CC genotype (P = 0.36). Compared to the C/C genotype, the 'G' allele (C/G+G/G genotypes) did not significantly modified the risk of developing epithelial ovarian cancer (OR = 0.43; 95% CI). As for the polymorphism rs1596797, compared to the C/C genotype, the 'A' allele (C/A+A/A genotypes) did not significantly modified the risk of developing epithelial ovarian cancer (OR = 881.7; 95% CI). MUC16 gene polymorphisms selected in this study are neither involved in genetic predisposition to epithelial ovarian cancer nor associated with CA125 level.

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“…Collectively, these high-risk, high-penetrance genes are rare in the population and are estimated to account for 10% to 15% of ovarian cancer (11). Studies to identify other chromosomal regions that might harbor major genes for ovarian cancer risk provide little evidence for the existence of additional high-risk genes for ovarian cancer susceptibility (12). Thus, there is emerging consensus that most of the genetic component of ovarian cancer risk is due to genetic polymorphisms that confer low to moderate risk.…”

Section: Introductionmentioning

confidence: 99%

Association of Single Nucleotide Polymorphisms in Glycosylation Genes with Risk of Epithelial Ovarian Cancer

Sellers

Huang

Cunningham³

et al. 2008

Cancer Epidemiology, Biomarkers &Amp; Prevention

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Studies suggest that underglycosylation of the cell membrane mucin MUC1 may be associated with epithelial ovarian cancer. We identified 26 genes involved in glycosylation and examined 93 single nucleotide polymorphisms (SNP) with a minor allele frequency of z0.05 in relation to incident ovarian cancer. Cases were ascertained at the Mayo Clinic, Rochester, MN (n = 396) or a 48-county region in North Carolina (Duke University; n = 534). Ovarian cancerfree controls (n = 1,037) were frequency matched to the cases on age, race, and residence. Subjects were interviewed to obtain data on risk factors and a sample of blood for DNA and genotyped using the Illumina GoldenGate assay. We excluded subjects and individual SNPs with genotype call rates of <90%. Data were analyzed using logistic regression, with adjustment for age and residence. We fitted dominant, log additive, and recessive genetic models. Among Caucasians, nine SNPs in eight genes were associated with risk at P < 0.05 under at least one genetic model before adjusting for multiple testing. A SNP in GALNT1 (rs17647532) was the only one that remained statistically significant after Bonferroni adjustment for multiple testing but was not statistically significant in Hardy-Weinberg equilibrium among controls. Haplotype analyses revealed a global association of GALNT1 with risk (P = 0.038, under a recessive genetic model), which largely reflected a decreased risk of one haplotype (0.10 frequency; odds ratio, 0.07; P = 0.01) compared with the most common haplotype (0.39 frequency). These results suggest that genetic polymorphisms in the glycoslyation process may be novel risk factors for ovarian cancer. (Cancer Epidemiol Biomarkers Prev 2008;17(2):397 -404)

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Localization of a novel susceptibility gene for familial ovarian cancer to chromosome 3p22-p25

Cited by 26 publications

References 20 publications

Epithelial cancer in Fanconi anemia complementation group D2 (Fancd2) knockout mice

Epithelial cancer in Fanconi anemia complementation group D2 (Fancd2) knockout mice

Polymorphisms in the MUC16 Gene: Potential Implication in Epithelial Ovarian Cancer

Association of Single Nucleotide Polymorphisms in Glycosylation Genes with Risk of Epithelial Ovarian Cancer

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