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Germline TP53 alterations in Finnish breast cancer families are rare and occur at conserved mutation-prone sites.

ABSTRACT: We have screened for germline TP53 mutations in Finnish BRCA1 and BRCA2 mutation-negative families. This study represents the largest survey of the entire protein-encoding portion of TP53, and indicates that mutations are only found at conserved domains in breast cancer families also meeting the criteria for Li-Fraumeni/Li-Fraumeni-like syndrome, explaining only a very small additional fraction of the hereditary breast cancer cases.

SUBMITTER: Rapakko K 

PROVIDER: S-EPMC2363618 | biostudies-other | 2001 Jan

REPOSITORIES: biostudies-other

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Germline TP53 alterations in Finnish breast cancer families are rare and occur at conserved mutation-prone sites.

Rapakko K K   Allinen M M   Syrjäkoski K K   Vahteristo P P   Huusko P P   Vähäkangas K K   Eerola H H   Kainu T T   Kallioniemi O P OP   Nevanlinna H H   Winqvist R R  

British journal of cancer 20010101 1

We have screened for germline TP53 mutations in Finnish BRCA1 and BRCA2 mutation-negative families. This study represents the largest survey of the entire protein-encoding portion of TP53, and indicates that mutations are only found at conserved domains in breast cancer families also meeting the criteria for Li-Fraumeni/Li-Fraumeni-like syndrome, explaining only a very small additional fraction of the hereditary breast cancer cases. ...[more]