PMID- 10480351
OWN - NLM
STAT- MEDLINE
DCOM- 19990923
LR  - 20221207
IS  - 0340-6717 (Print)
IS  - 0340-6717 (Linking)
VI  - 105
IP  - 1-2
DP  - 1999 Jul-Aug
TI  - BRCA1 mutations in African Americans.
PG  - 28-31
AB  - The breast cancer predisposing gene, BRCA1, was analyzed for germline mutations 
      in 45 African American families at high-risk for hereditary breast cancer. 
      Patients were considered high-risk if they had a family history of the disease, 
      early onset breast cancer, bilateral breast cancer, or breast and ovarian cancer. 
      The entire BRCA1 coding and flanking intron regions have been examined by single 
      stranded conformation polymorphism analysis followed by sequencing of variant 
      bands. Eleven different BRCA1 germline mutations/variations were identified in 7 
      patients from the 45 high-risk families. Two pathogenic, protein-truncating 
      mutations were detected in exon 11. A ten base pair tandem duplication, 943ins10, 
      was present in a woman with breast and ovarian cancer whose first-degree 
      relatives had prostate cancer. A four base pair deletion, 3450del4, was detected 
      in a breast cancer patient with five cases of breast cancer in the family; two of 
      the proband's sisters with breast cancer also carried the same mutation. Four 
      amino acid substitutions (Lys1183Arg, Leu1564Pro, Gln1785His, and Glu1794Asp) and 
      four nucleotide substitutions in intron 22 (IVS22+78 C/A, IVS22+67 T/C, IVS22+8 
      T/A and IVS22+7 T/C) were observed in patients and not in control subjects. One 
      early onset breast cancer patient carried five distinct BRCA1 variations, two 
      amino acid substitutions and three substitutions in intron 22. An amino acid 
      substitution in exon 11, Ser1140Gly, was identified in 3 different unrelated 
      patients and in 6 of 92 control samples. The latter probably represents a benign 
      polymorphism.
FAU - Panguluri, R C
AU  - Panguluri RC
AD  - Department of Microbiology, College of Medicine, Howard University, Washington, 
      DC 20059, USA.
FAU - Brody, L C
AU  - Brody LC
FAU - Modali, R
AU  - Modali R
FAU - Utley, K
AU  - Utley K
FAU - Adams-Campbell, L
AU  - Adams-Campbell L
FAU - Day, A A
AU  - Day AA
FAU - Whitfield-Broome, C
AU  - Whitfield-Broome C
FAU - Dunston, G M
AU  - Dunston GM
LA  - eng
GR  - G12 RR03048/RR/NCRR NIH HHS/United States
GR  - R01 CA557720/CA/NCI NIH HHS/United States
PT  - Journal Article
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
SB  - IM
MH  - Adult
MH  - Age of Onset
MH  - Aged
MH  - Aged, 80 and over
MH  - Black People/*genetics
MH  - Breast Neoplasms/*genetics
MH  - Breast Neoplasms, Male/genetics
MH  - DNA Mutational Analysis
MH  - Female
MH  - Genes, BRCA1/*genetics
MH  - Humans
MH  - Introns
MH  - Male
MH  - Middle Aged
MH  - *Mutation
MH  - Ovarian Neoplasms/genetics
MH  - Pedigree
MH  - Polymorphism, Genetic
MH  - Polymorphism, Single-Stranded Conformational
MH  - Prostatic Neoplasms/genetics
MH  - Risk Factors
MH  - United States
EDAT- 1999/09/10 00:00
MHDA- 1999/09/10 00:01
CRDT- 1999/09/10 00:00
PHST- 1999/09/10 00:00 [pubmed]
PHST- 1999/09/10 00:01 [medline]
PHST- 1999/09/10 00:00 [entrez]
AID - 10.1007/s004399900085 [doi]
PST - ppublish
SO  - Hum Genet. 1999 Jul-Aug;105(1-2):28-31. doi: 10.1007/s004399900085.