BRCA1 E1644X: a deleterious mutation in an African American individual with early onset breast cancer

S Eric Martin; Mark Sausen; Abraham Joseph; David D Biggs; Brewster F Kingham; Eric S Martin

doi:10.1007/s10549-008-9928-1

BRCA1 E1644X: a deleterious mutation in an African American individual with early onset breast cancer

Breast Cancer Res Treat. 2009 Jan;113(2):393-5. doi: 10.1007/s10549-008-9928-1. Epub 2008 Mar 2.

Authors

S Eric Martin¹, Mark Sausen, Abraham Joseph, David D Biggs, Brewster F Kingham, Eric S Martin

Affiliation

¹ Helen F. Graham Cancer Center, 4701 Ogletown-Stanton Road, Suite 2200, Newark, DE 19713, USA. semartin@cbg.org

PMID: 18311584
DOI: 10.1007/s10549-008-9928-1

Abstract

An African American individual with early onset breast cancer has a unique BRCA1 germline mutation, E1644X, that truncates the protein's carboxy terminal region. DNA sequencing for E1644X mutation and five BRCA1 exon-11 single nucleotide polymorphisms showed tumor LOH. Clinical history suggests paternal transmission of the deleterious allele, and tumor polymorphisms provide some insight into the ancestral origins of the mutation.

Publication types

Case Reports

MeSH terms

Adult
Age of Onset
Alleles
Amino Acid Substitution*
Black or African American / genetics*
Breast Neoplasms / ethnology
Breast Neoplasms / genetics*
Carcinoma, Ductal, Breast / ethnology
Carcinoma, Ductal, Breast / genetics*
Codon, Nonsense*
DNA, Neoplasm / genetics
Female
Genes, BRCA1*
Germ-Line Mutation*
Humans
Loss of Heterozygosity
Neoplastic Syndromes, Hereditary / ethnology
Neoplastic Syndromes, Hereditary / genetics*
Nigeria
Pedigree
Point Mutation*
Polymorphism, Single Nucleotide

Substances

Codon, Nonsense
DNA, Neoplasm