Published in:
01-03-2000 | Meeting abstract
Germline TP53mutations in Finnish breast cancer patients
Authors:
K Rapakko, M Allinen, K Syrjäkoski, P Vahteristo, P Huusko, K Vähäkangas, H Eerola, T Kainu, O-P Kallioniemi, H Nevanlinna, R Winqvist
Published in:
Breast Cancer Research
|
Special Issue 1/2000
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Excerpt
Breast cancer is the most frequent malignancy among women, positive family history being one of the strongest risk factors. Mutations in
BRCA1 and
BRCA2 account for a portion of inherited predisposition to breast cancer, but recently it was discovered that mutations in these two genes were less common in the studied Finnish cancer families than expected. Therefore, mutations in other susceptibility genes have actively been searched for.
TP53 is a tumor suppressor gene that is often found mutated in the Li-Fraumeni syndrome (LFS). Germline alterations of
TP53 are also thought to cause predisposition to breast cancer. In a previous study by Huusko
et al [
1], we screened Finnish LFS families for
TP53 exon 5-8 mutations and detected two, Tyr220Cys (exon 6) and Asn235Ser (exon 7), both of which appeared to be associated with accumulation of female breast cancer cases in particular. …
