Literature DB >> 19276285

Associations between single nucleotide polymorphisms in double-stranded DNA repair pathway genes and familial breast cancer.

Mary E Sehl1, Lucy R Langer, Jeanette C Papp, Lorna Kwan, Joyce L Seldon, Geovanni Arellano, Jean Reiss, Elaine F Reed, Sugandha Dandekar, Yael Korin, Janet S Sinsheimer, Zuo-Feng Zhang, Patricia A Ganz.   

Abstract

PURPOSE: DNA damage recognition and repair play a major role in risk for breast cancer. We investigated 104 single nucleotide polymorphisms (SNP) in 17 genes whose protein products are involved in double-stranded break repair (DSBR). EXPERIMENTAL
DESIGN: We used a case-control design. Both the case individuals affected with breast cancer or with both breast and ovarian cancers and the controls had similar familial risk of breast cancer and were participants in a high-risk cancer registry.
RESULTS: We found that 12 of the polymorphisms are associated with breast or breast and ovarian cancers, most notably rs16888927, rs16888997, and rs16889040, found in introns of RAD21, suggesting that SNPs in other genes in the DSBR pathway in addition to BRCA1 and BRCA2 may affect breast cancer risk.
CONCLUSIONS: SNPs within or near several DSBR DNA repair pathway genes are associated with breast cancer in individuals from a high-risk population. In addition, our study reemphasizes the unique perspective that recruitment of cases and controls from family cancer registries has for gene discovery studies.

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Year:  2009        PMID: 19276285      PMCID: PMC2778342          DOI: 10.1158/1078-0432.CCR-08-1417

Source DB:  PubMed          Journal:  Clin Cancer Res        ISSN: 1078-0432            Impact factor:   12.531


  46 in total

1.  SNPs and snails and puppy dogs' tails: analysis of SNP haplotype data using the gamete competition model.

Authors:  J S Sinsheimer; C A McKenzie; B Keavney; K Lange
Journal:  Ann Hum Genet       Date:  2001-09       Impact factor: 1.670

2.  Detection and integration of genotyping errors in statistical genetics.

Authors:  Eric Sobel; Jeanette C Papp; Kenneth Lange
Journal:  Am J Hum Genet       Date:  2002-01-08       Impact factor: 11.025

3.  Variants in DNA double-strand break repair genes and breast cancer susceptibility.

Authors:  Bettina Kuschel; Annika Auranen; Simon McBride; Karen L Novik; Antonis Antoniou; Julian M Lipscombe; Nicholas E Day; Douglas F Easton; Bruce A J Ponder; Paul D P Pharoah; Alison Dunning
Journal:  Hum Mol Genet       Date:  2002-06-01       Impact factor: 6.150

4.  The lifetime risks of breast cancer in Ashkenazi Jewish carriers of BRCA1 and BRCA2 mutations.

Authors:  J M Satagopan; K Offit; W Foulkes; M E Robson; S Wacholder; C M Eng; S E Karp; C B Begg
Journal:  Cancer Epidemiol Biomarkers Prev       Date:  2001-05       Impact factor: 4.254

5.  Genome-wide association study provides evidence for a breast cancer risk locus at 6q22.33.

Authors:  Bert Gold; Tomas Kirchhoff; Stefan Stefanov; James Lautenberger; Agnes Viale; Judy Garber; Eitan Friedman; Steven Narod; Adam B Olshen; Peter Gregersen; Kristi Kosarin; Adam Olsh; Julie Bergeron; Nathan A Ellis; Robert J Klein; Andrew G Clark; Larry Norton; Michael Dean; Jeff Boyd; Kenneth Offit
Journal:  Proc Natl Acad Sci U S A       Date:  2008-03-07       Impact factor: 11.205

6.  DNA-repair genetic polymorphisms and risk of breast cancer in Cyprus.

Authors:  Maria A Loizidou; Thalia Michael; Susan L Neuhausen; Robert F Newbold; Yiola Marcou; Eleni Kakouri; Maria Daniel; Panayiotis Papadopoulos; Simos Malas; Andreas Hadjisavvas; Kyriacos Kyriacou
Journal:  Breast Cancer Res Treat       Date:  2008-06-16       Impact factor: 4.872

7.  A single nucleotide polymorphism in the RAD51 gene modifies cancer risk in BRCA2 but not BRCA1 carriers.

Authors:  E Levy-Lahad; A Lahad; S Eisenberg; E Dagan; T Paperna; L Kasinetz; R Catane; B Kaufman; U Beller; P Renbaum; R Gershoni-Baruch
Journal:  Proc Natl Acad Sci U S A       Date:  2001-03-13       Impact factor: 11.205

8.  Polymorphisms in the DNA repair gene XRCC1 and breast cancer.

Authors:  E J Duell; R C Millikan; G S Pittman; S Winkel; R M Lunn; C K Tse; A Eaton; H W Mohrenweiser; B Newman; D A Bell
Journal:  Cancer Epidemiol Biomarkers Prev       Date:  2001-03       Impact factor: 4.254

9.  In search of the tumour-suppressor functions of BRCA1 and BRCA2.

Authors:  R Scully; D M Livingston
Journal:  Nature       Date:  2000-11-23       Impact factor: 49.962

10.  Functional link of BRCA1 and ataxia telangiectasia gene product in DNA damage response.

Authors:  S Li; N S Ting; L Zheng; P L Chen; Y Ziv; Y Shiloh; E Y Lee; W H Lee
Journal:  Nature       Date:  2000-07-13       Impact factor: 49.962

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  17 in total

1.  Association screening of common and rare genetic variants by penalized regression.

Authors:  Hua Zhou; Mary E Sehl; Janet S Sinsheimer; Kenneth Lange
Journal:  Bioinformatics       Date:  2010-08-06       Impact factor: 6.937

2.  Genetic variants of genes in the NER pathway associated with risk of breast cancer: A large-scale analysis of 14 published GWAS datasets in the DRIVE study.

Authors:  Jie Ge; Hongliang Liu; Danwen Qian; Xiaomeng Wang; Patricia G Moorman; Sheng Luo; Shelley Hwang; Qingyi Wei
Journal:  Int J Cancer       Date:  2019-05-13       Impact factor: 7.396

3.  Association of BRCA1 functional single nucleotide polymorphisms with risk of differentiated thyroid carcinoma.

Authors:  Li Xu; Phi C Doan; Qingyi Wei; Yanhong Liu; Guojun Li; Erich M Sturgis
Journal:  Thyroid       Date:  2011-12-02       Impact factor: 6.568

Review 4.  Can corruption of chromosome cohesion create a conduit to cancer?

Authors:  Huiling Xu; Jonathan M Tomaszewski; Michael J McKay
Journal:  Nat Rev Cancer       Date:  2011-02-17       Impact factor: 60.716

Review 5.  Poly (ADP-ribose) polymerase as a novel therapeutic target in cancer.

Authors:  Christina M Annunziata; Joyce O'Shaughnessy
Journal:  Clin Cancer Res       Date:  2010-09-07       Impact factor: 12.531

6.  BRCA1 polymorphisms and breast cancer epidemiology in the Western New York exposures and breast cancer (WEB) study.

Authors:  Luisel J Ricks-Santi; Jing Nie; Catalin Marian; Heather M Ochs-Balcom; Maurizio Trevisan; Stephen B Edge; Yasmine Kanaan; Jo L Freudenheim; Peter G Shields
Journal:  Genet Epidemiol       Date:  2013-05-14       Impact factor: 2.135

7.  DNA double-strand break repair genotype and phenotype and breast cancer risk within sisters from the New York site of the Breast Cancer Family Registry (BCFR).

Authors:  Hui-Chen Wu; Lissette Delgado-Cruzata; Nicola Machella; Qiao Wang; Regina M Santella; Mary Beth Terry
Journal:  Cancer Causes Control       Date:  2013-09-24       Impact factor: 2.506

8.  Interaction between DNA Polymerase β and BRCA1.

Authors:  Aya Masaoka; Natalie R Gassman; Julie K Horton; Padmini S Kedar; Kristine L Witt; Cheryl A Hobbs; Grace E Kissling; Keizo Tano; Kenjiro Asagoshi; Samuel H Wilson
Journal:  PLoS One       Date:  2013-06-27       Impact factor: 3.240

9.  Cohesin is required for activation of MYC by estradiol.

Authors:  Miranda V McEwan; Michael R Eccles; Julia A Horsfield
Journal:  PLoS One       Date:  2012-11-08       Impact factor: 3.240

10.  A two-stage association study identifies methyl-CpG-binding domain protein 2 gene polymorphisms as candidates for breast cancer susceptibility.

Authors:  Yadav Sapkota; Paula Robson; Raymond Lai; Carol E Cass; John R Mackey; Sambasivarao Damaraju
Journal:  Eur J Hum Genet       Date:  2012-01-18       Impact factor: 4.246

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