Mutation analysis of five candidate genes in familial breast cancer

Marsh, Anna, Healey, Sue C., Lewis, Aaron, Spurdle, Amanda B., Kedda, Mary-Anne, Khanna, Kum Kum, Mann, Graham J., Pupo, Gulietta M., Lakhani, Sunil R., Chenevix-Trench, Georgia, & The Kathleen Cunningham Foundation for Research into Familial Breast Cancer, - (2006) Mutation analysis of five candidate genes in familial breast cancer. Breast Cancer Research and Treatment, 105(3), pp. 377-389.

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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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10 citations in Scopus
11 citations in Web of Science®
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ID Code: 8847
Item Type: Journal Article
Refereed: Yes
Additional Information: For more information, please refer to the journal's website (see hypertext link) or contact the author.
Author contact details:
Keywords: ATR, BRCA1/2, CHK1, EIF2S6/Int, 6, Familial breast cancer, PPP2R1B, PPP2R5B
DOI: 10.1007/s10549-006-9461-z
ISSN: 1573-7217
Subjects: Australian and New Zealand Standard Research Classification > BIOLOGICAL SCIENCES (060000) > GENETICS (060400)
Australian and New Zealand Standard Research Classification > MEDICAL AND HEALTH SCIENCES (110000) > PUBLIC HEALTH AND HEALTH SERVICES (111700) > Epidemiology (111706)
Divisions: Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
Copyright Owner: Copyright 2006 Springer
Deposited On: 02 Aug 2007 00:00
Last Modified: 22 Mar 2016 05:05

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