Department of Radiation Oncology and Kimmel Cancer Center, Thomas jefferson University, The intronic G13964C variant in p53 is not a high-risk mutation in familial breast cancer in Australia.

Authors

Anna Marsh, Queensland Institute of Medical Research, Brisbane, Queensland, Australia
Amanda B Spurdle, Queensland Institute of Medical Research, Brisbane, Queensland, AustraliaFollow
Bruce C Turner, Department of Radiation Oncology and Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, Pennsylvania, USAFollow
Sian Fereday, Anti Cancer Council of Victoria, Melbourne, Victoria, Australia
Heather Thorne, Peter MacCallum Cancer Institute, Melbourne, Victoria, Australia
Gulietta M Pupo, Westmead Institute for Cancer Research, University of Sydney at Westmead Millennium Institute, Westmead, New South Wales, Australia
Graham J Mann, Westmead Institute for Cancer Research, University of Sydney at Westmead Millennium Institute, Westmead, New South Wales, Australia
John L Hopper, University of Melbourne, Melbourne, Victoria, AustraliaFollow
Joseph F Sambrook, Peter MacCallum Cancer Institute, Melbourne, Victoria, Australia
Georgia Chenevix-Trench, Queensland Institute of Medical Research, Brisbane, Queensland, AustraliaFollow

Document Type

Article

Publication Date

1-1-2001

Comments

This article has been peer reviewed and is published in BMC Breast Cancer Research Volume 3, Issue 5, 2001, Pages 346-349. The published version is available at DOI: 10.1186/bcr319. Copyright © BioMed Central Ltd.

Abstract

BACKGROUND: Mutations in BRCA1 and BRCA2 account for approximately 50% of breast cancer families with more than four affected cases, whereas exonic mutations in p53, PTEN, CHK2 and ATM may account for a very small proportion. It was recently reported that an intronic variant of p53--G13964C--occurred in three out of 42 (7.1%) 'hereditary' breast cancer patients, but not in any of 171 'sporadic' breast cancer control individuals (P = 0.0003). If this relatively frequent occurrence of G13964C in familial breast cancer and absence in control individuals were confirmed, then this would suggest that the G13964C variant plays a role in breast cancer susceptibility. METHOD: We genotyped 71 familial breast cancer patients and 143 control individuals for the G13964C variant using polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) analysis. RESULTS: Three (4.2%; 95% confidence interval [CI] 0-8.9%) G13964C heterozygotes were identified. The variant was also identified in 5 out of 143 (3.5%; 95% CI 0.6-6.4%) control individuals without breast cancer or a family history of breast cancer, however, which is no different to the proportion found in familial cases (P = 0.9). CONCLUSION: The present study would have had 80% power to detect an odds ratio of 4.4, and we therefore conclude that the G13946C polymorphism is not a 'high-risk' mutation for familial breast cancer.

Recommended Citation

Marsh, Anna; Spurdle, Amanda B; Turner, Bruce C; Fereday, Sian; Thorne, Heather; Pupo, Gulietta M; Mann, Graham J; Hopper, John L; Sambrook, Joseph F; and Chenevix-Trench, Georgia, "Department of Radiation Oncology and Kimmel Cancer Center, Thomas jefferson University, The intronic G13964C variant in p53 is not a high-risk mutation in familial breast cancer in Australia." (2001). Department of Radiation Oncology Faculty Papers. Paper 20.
https://jdc.jefferson.edu/radoncfp/20

PubMed ID

11597326