BRCA1 E1644X: a deleterious mutation in an African American individual with early onset breast cancer.
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.
Martin
S Eric
SE
Helen F. Graham Cancer Center, 4701 Ogletown-Stanton Road, Suite 2200, Newark, DE 19713, USA. semartin@cbg.org
Sausen
Mark
M
Joseph
Abraham
A
Biggs
David D
DD
Kingham
Brewster F
BF
Martin
Eric S
ES
D000328:Adult; D001741:Black or African American / Q000235:genetics*; D017668:Age of Onset; D000483:Alleles; D019943:Amino Acid Substitution; D001943:Breast Neoplasms / Q000208:ethnology / Q000235:genetics*; D018270:Carcinoma, Ductal, Breast / Q000208:ethnology / Q000235:genetics*; D018389:Codon, Nonsense; D004273:DNA, Neoplasm / Q000235:genetics; D005260:Female; D019398:Genes, BRCA1; D018095:Germ-Line Mutation; D006801:Humans; D019656:Loss of Heterozygosity; D009386:Neoplastic Syndromes, Hereditary / Q000208:ethnology / Q000235:genetics*; D009549:Nigeria; D010375:Pedigree; D017354:Point Mutation; D020641:Polymorphism, Single Nucleotide
D018389:Codon, Nonsense; D004273:DNA, Neoplasm