PMID- 10427123
OWN - NLM
STAT- MEDLINE
DCOM- 19991014
LR  - 20190516
IS  - 1019-6439 (Print)
IS  - 1019-6439 (Linking)
VI  - 15
IP  - 3
DP  - 1999 Sep
TI  - Identification of a 5-cM region of common allelic loss on 8p12-p21 in human
      breast cancer and genomic analysis of the hEXT1L/EXTR1/EXTL3 gene in this locus.
PG  - 443-51
AB  - The short arm of chromosome 8 is frequently lost in many human carcinomas
      including breast cancer, suggesting the presence of a tumor suppressor gene(s) in
      this region. We identified a gene termed hEXT1L/EXTR1/EXTL3 (hEXT1L hereinafter) 
      that was mapped to chromosome bands 8p12-p21 where frequent LOHs of this region
      was reported in breast cancer. The existence of the third breast cancer
      susceptibility gene was also suggested in this region by linkage analysis. We
      further performed LOH analysis in 8p12-p21 in 34 breast cancers and identified a 
      5-cM region of common allelic loss that overlapped with the locus for positive
      lod score in familial breast cancer. We further analyzed genomic alterations of
      hEXT1L in tumors in which frequent LOHs of 8p were reported. A total of 327
      cancers (313 primary tumors and 14 cancer cell lines) including 22 primary breast
      cancers were analyzed, but none of the tumors had somatic mutations: only one
      thyroid cancer patient without any family history of cancer had a 9-bp insertion 
      in the constitutional DNA. These results suggest that mutations of hEXT1L do not 
      play a major role in the development of sporadic cancers including breast cancer,
      and that other tumor suppressor gene(s) exists in the 5-cM region identified in
      this study.
FAU - Suzuki, A
AU  - Suzuki A
AD  - Department of Molecular Pathology, Tohoku University School of Medicine, Sendai
      980-8575, Japan.
FAU - Shao, X
AU  - Shao X
FAU - Song, X Q
AU  - Song XQ
FAU - Hanaoka, T
AU  - Hanaoka T
FAU - Irie, S
AU  - Irie S
FAU - Kashiwada, M
AU  - Kashiwada M
FAU - Samara, G
AU  - Samara G
FAU - Close, L G
AU  - Close LG
FAU - Aoki, T
AU  - Aoki T
FAU - Fujimori, M
AU  - Fujimori M
FAU - Ishikawa, Y
AU  - Ishikawa Y
FAU - Hatori, M
AU  - Hatori M
FAU - Hosaka, M
AU  - Hosaka M
FAU - Sakurada, A
AU  - Sakurada A
FAU - Sato, M
AU  - Sato M
FAU - Ohuchi, N
AU  - Ohuchi N
FAU - Satomi, S
AU  - Satomi S
FAU - Fukushige, S
AU  - Fukushige S
FAU - Horii, A
AU  - Horii A
FAU - Sato, T
AU  - Sato T
LA  - eng
GR  - R01GM55147/GM/NIGMS NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - Greece
TA  - Int J Oncol
JT  - International journal of oncology
JID - 9306042
SB  - IM
MH  - Alleles
MH  - Breast Neoplasms/*genetics
MH  - Case-Control Studies
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 8
MH  - DNA Mutational Analysis
MH  - Female
MH  - *Genes, Tumor Suppressor
MH  - Genetic Predisposition to Disease
MH  - *Genome, Human
MH  - Humans
MH  - Loss of Heterozygosity
MH  - Reverse Transcriptase Polymerase Chain Reaction
EDAT- 1999/07/31 00:00
MHDA- 1999/07/31 00:01
CRDT- 1999/07/31 00:00
PHST- 1999/07/31 00:00 [pubmed]
PHST- 1999/07/31 00:01 [medline]
PHST- 1999/07/31 00:00 [entrez]
AID - 10.3892/ijo.15.3.443 [doi]
PST - ppublish
SO  - Int J Oncol. 1999 Sep;15(3):443-51. doi: 10.3892/ijo.15.3.443.