Mutation analysis of five candidate genes in familial breast cancer View Full Text


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Article Info

DATE

2006-12-23

AUTHORS

Anna Marsh, Sue Healey, Aaron Lewis, Amanda B. Spurdle, Mary Anne Kedda, Kum Kum Khanna, kConFab, Graham J. Mann, Gulietta M. Pupo, Sunil R. Lakhani, Georgia Chenevix-Trench

ABSTRACT

Most of the known breast cancer susceptibility genes (BRCA1, BRCA2, CHEK2 and ATM) are involved in the damage response pathway. Other members of this pathway are therefore good candidates for additional breast cancer susceptibility genes. ATR, along with ATM, plays a central role in DNA damage recognition and Chk1 relays checkpoint signals from both ATR and ATM. PPP2R1B and PPP2R5B code for subunits of protein phosphatase 2A (PP2A), which regulates autophosphorylation of ATM. In addition, EIF2S6/Int-6, which was originally identified as a common integration site for the mouse mammary tumour virus in virally induced mouse mammary tumours, is a candidate breast cancer susceptibility gene because of its putative role in maintaining chromosome stability. To investigate the role of ATR, CHK1, PPP2R1B, PPP2R5B and EIF2S6/Int-6, we carried out mutation analysis of these genes in the index cases from non-BRCA1/BRCA2 breast cancer families. We also screened sporadic breast tumours for somatic mutations in PPP2R1B and PPP2R5B. Although we identified many novel variants, we found no evidence that highly penetrant germline mutations in these five genes contribute to familial breast cancer susceptibility. More... »

PAGES

377-389

References to SciGraph publications

  • 2003-03-17. A splicing mutation affecting expression of ataxia–telangiectasia and Rad3–related protein (ATR) results in Seckel syndrome in NATURE GENETICS
  • 2002-02-11. BRCA1 regulates the G2/M checkpoint by activating Chk1 kinase upon DNA damage in NATURE GENETICS
  • 2001-08-30. Evidence for the transforming activity of a truncated Int6 gene, in vitro in ONCOGENE
  • 2001-11-22. Candidate tumour suppressor genes at 11q23–q24 in breast cancer: evidence of alterations in PIG8, a gene involved in p53-induced apoptosis in ONCOGENE
  • 2006-09-29. Mutation analysis and characterization of ATR sequence variants in breast cancer cases from high-risk French Canadian breast/ovarian cancer families in BMC CANCER
  • 2005-05-22. A screen of the complete protein kinase gene family identifies diverse patterns of somatic mutations in human breast cancer in NATURE GENETICS
  • 2004-07. ATM and Genome Maintenance: Defining Its Role in Breast Cancer Susceptibility in JOURNAL OF MAMMARY GLAND BIOLOGY AND NEOPLASIA
  • 2005-05-06. Mutation analysis of the ATRgene in breast and ovarian cancer families in BREAST CANCER RESEARCH
  • 2006-02-13. Analysis of cancer risk and BRCA1 and BRCA2mutation prevalence in the kConFab familial breast cancer resource in BREAST CANCER RESEARCH
  • 2004-11-22. Silencing of human Int-6 impairs mitosis progression and inhibits cyclin B–Cdk1 activation in ONCOGENE
  • 2001-01-04. Disruption of protein phosphatase 2A subunit interaction in human cancers with mutations in the Aα subunit gene in ONCOGENE
  • 2005-10-21. Mutation analysis of FANCD2, BRIP1/BACH1, LMO4 and SFN in familial breast cancer in BREAST CANCER RESEARCH
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1007/s10549-006-9461-z

    DOI

    http://dx.doi.org/10.1007/s10549-006-9461-z

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1017677349

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/17187232


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    34 schema:description Most of the known breast cancer susceptibility genes (BRCA1, BRCA2, CHEK2 and ATM) are involved in the damage response pathway. Other members of this pathway are therefore good candidates for additional breast cancer susceptibility genes. ATR, along with ATM, plays a central role in DNA damage recognition and Chk1 relays checkpoint signals from both ATR and ATM. PPP2R1B and PPP2R5B code for subunits of protein phosphatase 2A (PP2A), which regulates autophosphorylation of ATM. In addition, EIF2S6/Int-6, which was originally identified as a common integration site for the mouse mammary tumour virus in virally induced mouse mammary tumours, is a candidate breast cancer susceptibility gene because of its putative role in maintaining chromosome stability. To investigate the role of ATR, CHK1, PPP2R1B, PPP2R5B and EIF2S6/Int-6, we carried out mutation analysis of these genes in the index cases from non-BRCA1/BRCA2 breast cancer families. We also screened sporadic breast tumours for somatic mutations in PPP2R1B and PPP2R5B. Although we identified many novel variants, we found no evidence that highly penetrant germline mutations in these five genes contribute to familial breast cancer susceptibility.
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