PMID- 10477429
OWN - NLM
STAT- MEDLINE
DCOM- 19991012
LR  - 20071114
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 14
IP  - 3
DP  - 1999
TI  - TP53 mutation and haplotype analysis of two large African American families.
PG  - 216-21
AB  - Two large apparently unrelated African American families with a high incidence of
      breast cancer and other tumors characteristic of Li-Fraumeni breast sarcoma
      cancer family syndrome were studied. Mutation screening revealed that in both
      families the affected members carried a germline mutation of the TP53 gene at
      codon 133 (ATG--> ACG, M133T). In order to determine whether an ancestral
      haplotype was shared by these two families, polymorphic markers within and
      flanking the TP53 gene were studied. Haplotype analysis using five markers
      revealed an identical haplotype shared by the two families. Loss of
      heterozygosity at the TP53 locus in the probands' tumor tissues from each family 
      was observed; in each case, the retained allele carried the common haplotype. The
      frequency of this haplotype in the general African American population is <0.003.
      This unique haplotype, combined with the rare TP53 mutation, suggests that these 
      African American families share a common ancestry. This finding suggests that
      other African Americans may be carriers of this mutation and thus may be at risk 
      of early-onset breast cancer or other cancers characteristic of the Li-Fraumeni
      breast sarcoma cancer family syndrome. The finding of recurring mutations in
      African Americans may facilitate carrier screening and identification in this
      population.
CI  - Copyright 1999 Wiley-Liss, Inc.
FAU - Hung, J
AU  - Hung J
AD  - Hamon Center for Therapeutic Oncology Research, University of Texas Southwestern 
      Medical Center, Dallas, Texas 75235-8593, USA.
FAU - Mims, B
AU  - Mims B
FAU - Lozano, G
AU  - Lozano G
FAU - Strong, L
AU  - Strong L
FAU - Harvey, C
AU  - Harvey C
FAU - Chen, T T
AU  - Chen TT
FAU - Stastny, V
AU  - Stastny V
FAU - Tomlinson, G
AU  - Tomlinson G
LA  - eng
GR  - P01-CA34936/CA/NCI NIH HHS/United States
PT  - Journal Article
PT  - Research Support, U.S. Gov't, Non-P.H.S.
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
SB  - IM
MH  - Alleles
MH  - Breast Neoplasms/genetics
MH  - DNA Mutational Analysis
MH  - Female
MH  - Gene Frequency
MH  - Genes, p53/*genetics
MH  - Haplotypes/*genetics
MH  - Humans
MH  - Li-Fraumeni Syndrome/genetics
MH  - Loss of Heterozygosity
MH  - Male
MH  - Mutation
MH  - Pedigree
MH  - Polymorphism, Single-Stranded Conformational
EDAT- 1999/09/08 00:00
MHDA- 1999/09/08 00:01
CRDT- 1999/09/08 00:00
PHST- 1999/09/08 00:00 [pubmed]
PHST- 1999/09/08 00:01 [medline]
PHST- 1999/09/08 00:00 [entrez]
AID - 10.1002/(SICI)1098-1004(1999)14:3<216::AID-HUMU4>3.0.CO;2-X [pii]
AID - 10.1002/(SICI)1098-1004(1999)14:3<216::AID-HUMU4>3.0.CO;2-X [doi]
PST - ppublish
SO  - Hum Mutat. 1999;14(3):216-21. doi:
      10.1002/(SICI)1098-1004(1999)14:3<216::AID-HUMU4>3.0.CO;2-X.