Comparative disease pattern of a patient with a novel BRCA2 truncation and knockout models for BRCA2

Josefa Salgado; Cristina Gutiérrez; Carmen Gil; Maitane Robles; Jesús García-Foncillas

doi:10.1007/s10549-010-0776-4

Comparative disease pattern of a patient with a novel BRCA2 truncation and knockout models for BRCA2

Breast Cancer Res Treat. 2010 Aug;123(1):291-3. doi: 10.1007/s10549-010-0776-4. Epub 2010 Feb 12.

Authors

Josefa Salgado¹, Cristina Gutiérrez, Carmen Gil, Maitane Robles, Jesús García-Foncillas

Affiliation

¹ Clinical Genetics Unit, University Clinic of Navarra, Avda Pio XII 36, 31008 Pamplona, Navarra, Spain. jsalgadog@unav.es

PMID: 20151322
DOI: 10.1007/s10549-010-0776-4

Abstract

We report a novel germline 490delCT mutation in BRCA2 gene, detected in a 38-year-old woman with breast cancer. The mutation originates a premature stop at codon 99, leading to a truncated protein, and has not been documented in any published report to the best of our knowledge.

Publication types

Case Reports
Comparative Study
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Animals
Base Sequence
Breast Neoplasms / genetics*
Breast Neoplasms / pathology*
Carcinoma, Ductal, Breast / genetics*
Carcinoma, Ductal, Breast / pathology
Disease Models, Animal
Female
Genes, BRCA2*
Genetic Predisposition to Disease
Humans
Mice
Mice, Knockout
Molecular Sequence Data
Mutation
Pedigree
Rats
Reverse Transcriptase Polymerase Chain Reaction