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

2001

Rare TP53 Mutations in Finnish Breast Cancer Families

publication Evidence: moderate

Author Information

Author(s): Rapakko K, Allinen M, Syrjäkoski K, Vahteristo P, Huusko P, Vähäkangas K, Eerola H, Kainu T, Kallioniemi O-P, Nevanlinna H, Winqvist R

Primary Institution: University of Oulu/Oulu University Hospital, Oulu, Finland

Are germline TP53 mutations present in Finnish breast cancer families?

The study found that TP53 mutations are rare and occur only at specific sites in families with hereditary breast cancer.

The study represents the largest survey of the entire protein-encoding portion of TP53.
Mutations were only found at conserved domains in families meeting Li-Fraumeni criteria.
TP53 mutations explain only a small fraction of hereditary breast cancer cases.

This study looked for specific gene changes in families with breast cancer and found that these changes are very uncommon.

The study screened for germline TP53 mutations in Finnish BRCA1 and BRCA2 mutation-negative families.

The study only focused on families meeting specific criteria and may not represent all breast cancer cases.

Finnish families with breast cancer, specifically those negative for BRCA1 and BRCA2 mutations.

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