PMID- 10323242
OWN - NLM
STAT- MEDLINE
DCOM- 19990521
LR  - 20190722
IS  - 0340-6717 (Print)
IS  - 0340-6717 (Linking)
VI  - 104
IP  - 3
DP  - 1999 Mar
TI  - Molecular characterization of germline mutations in the BRCA1 and BRCA2 genes
      from breast cancer families in Taiwan.
PG  - 201-4
AB  - A total of 18 families with multiple cases of breast cancer were identified from 
      southern Taiwan, and 5 of these families were found to carry cancer-associated
      germline mutations in the BRCA1 and BRCA2 genes. One novel cryptic splicing
      mutation of the BRCA1 gene, found in two unrelated families, was shown to be a
      deletion of 10 bp near the branch site in intron 7. This mutation causes an
      insertion of 59 nucleotides derived from intron 7 and results in a frameshift,
      leading to premature translational termination of BRCA1 mRNA in exon 8. Deletions
      of 2670delC, 3073delT and 6696-7delTC in the BRCA2 gene were found in three other
      breast cancer families. All three deletions are predicted to generate frameshifts
      and to result in the premature termination of BRCA2 protein translation. Several 
      genetic polymorphisms in both BRCA1 and BRCA2 genes were also detected in this
      investigation.
FAU - Li, S S
AU  - Li SS
AD  - Institute of Biomedical Sciences, National Sun Yat-Sen University, Kaohsiung,
      Taiwan, Republic of China. lissl@mail.nsysu.edu.tw
FAU - Tseng, H M
AU  - Tseng HM
FAU - Yang, T P
AU  - Yang TP
FAU - Liu, C H
AU  - Liu CH
FAU - Teng, S J
AU  - Teng SJ
FAU - Huang, H W
AU  - Huang HW
FAU - Chen, L M
AU  - Chen LM
FAU - Kao, H W
AU  - Kao HW
FAU - Chen, J H
AU  - Chen JH
FAU - Tseng, J N
AU  - Tseng JN
FAU - Chen, A
AU  - Chen A
FAU - Hou, M F
AU  - Hou MF
FAU - Huang, T J
AU  - Huang TJ
FAU - Chang, H T
AU  - Chang HT
FAU - Mok, K T
AU  - Mok KT
FAU - Tsai, J H
AU  - Tsai JH
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
RN  - 0 (BRCA1 Protein)
RN  - 0 (BRCA2 Protein)
RN  - 0 (DNA, Complementary)
RN  - 0 (Neoplasm Proteins)
RN  - 0 (RNA, Messenger)
RN  - 0 (Transcription Factors)
SB  - IM
MH  - Adult
MH  - Amino Acid Sequence
MH  - Amino Acid Substitution
MH  - BRCA1 Protein/*genetics
MH  - BRCA2 Protein
MH  - Base Sequence
MH  - Breast Neoplasms/*genetics
MH  - DNA Mutational Analysis
MH  - DNA, Complementary/chemistry/genetics
MH  - Exons
MH  - Family Health
MH  - Female
MH  - Germ-Line Mutation
MH  - Heterozygote
MH  - Humans
MH  - Introns
MH  - Middle Aged
MH  - Molecular Sequence Data
MH  - Mutagenesis, Insertional
MH  - Neoplasm Proteins/*genetics
MH  - Point Mutation
MH  - RNA, Messenger/genetics
MH  - Reverse Transcriptase Polymerase Chain Reaction
MH  - Sequence Analysis, DNA
MH  - Sequence Deletion
MH  - Taiwan
MH  - Transcription Factors/*genetics
EDAT- 1999/05/14 00:00
MHDA- 1999/05/14 00:01
CRDT- 1999/05/14 00:00
PHST- 1999/05/14 00:00 [pubmed]
PHST- 1999/05/14 00:01 [medline]
PHST- 1999/05/14 00:00 [entrez]
AID - 10.1007/s004390050936 [doi]
PST - ppublish
SO  - Hum Genet. 1999 Mar;104(3):201-4. doi: 10.1007/s004390050936.