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pubmed-article:11597326pubmed:abstractTextMutations 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.lld:pubmed
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pubmed-article:11597326pubmed:articleTitleThe intronic G13964C variant in p53 is not a high-risk mutation in familial breast cancer in Australia.lld:pubmed
pubmed-article:11597326pubmed:affiliationQueensland Institute of Medical Research, Brisbane, Queensland, Australia.lld:pubmed
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