Pathology - Research Publications

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Author: Southey, Melissa × Author: VENTER, DEON × Author: Dite, Gillian × Start date: 2001 × End date: 2009 ×

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    Risk factors for breast cancer in young women by oestrogen receptor and progesterone receptor status
    McCredie, MRE ; Dite, GS ; Southey, MC ; Venter, DJ ; Giles, GG ; Hopper, JL (NATURE PUBLISHING GROUP, 2003-11-03)
    We used data from 765 cases and 564 controls in the population-based Australian Breast Cancer Family Study to investigate whether, in women under the age of 40, the profile of risk factors differed between breast cancer subtypes defined by joint oestrogen and progesterone receptor status. As hypothesised, no significant differences were found.
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    The intronic G13964C variant in p53 is not a high-risk mutation in familial breast cancer in Australia
    Marsh, A ; Spurdle, AB ; Turner, BC ; Fereday, S ; Thorne, H ; Pupo, GM ; Mann, GJ ; Hopper, JL ; Sambrook, JF ; Chenevix-Trench, G (BIOMED CENTRAL LTD, 2001)
    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.