Ontology highlight
ABSTRACT:
SUBMITTER: Gomes R
PROVIDER: S-EPMC7250276 | biostudies-literature | 2020 Jan-Mar
REPOSITORIES: biostudies-literature
Genetics and molecular biology 20200101 2
Specific pathogenic mutations associated with breast cancer development can vary between ethnical groups. One example is BRCA1 c.5266dupC that was first described as a founder mutation in the Ashkenazi Jewish population, but was later also found in other populations. In Brazil, this mutation corresponds to 20% of pathogenic BRCA1 variants reported. Our objective was to investigate the haplotype component of a group of Brazilian families who inherited c.5266dupC in the BRCA1 gene and to verify th ...[more]