PMID- 10092300
OWN - NLM
STAT- MEDLINE
DCOM- 19990414
LR  - 20190707
IS  - 0016-5085 (Print)
IS  - 0016-5085 (Linking)
VI  - 116
IP  - 4
DP  - 1999 Apr
TI  - Inherited susceptibility to colorectal adenomas and carcinomas: evidence for a
      new predisposition gene on 15q14-q22.
PG  - 789-95
AB  - BACKGROUND & AIMS: The aim of this study was to evaluate the role of known
      colorectal adenoma and carcinoma susceptibility genes and to locate a novel
      susceptibility gene in an Ashkenazi family (SM1311) with dominantly inherited
      predisposition to colorectal adenomas and carcinomas. METHODS: Clinicopathologic 
      and family history data were collected. Genetic linkage and mutational analyses
      were used to investigate the genetic basis of the family's disease. RESULTS:
      Affected members of SM1311 develop multiple tubular, villous, tubulovillous,
      and/or serrated colorectal adenomas throughout the large bowel, and some develop 
      colon carcinoma. There are no extracolonic features clearly associated with
      disease in SM1311. We have shown that the family's phenotype does not result from
      APC mutations (including the I1307K variant) or from genetic changes in the other
      known genes that predispose to colon cancer. Using genetic linkage analysis,
      supplemented by allele loss in tumors, we have provided evidence for a new
      colorectal cancer susceptibility gene, CRAC1 (colorectal adenoma and carcinoma), 
      mapping to chromosome 15q14-q22. CONCLUSIONS: We provide evidence for a novel
      colorectal adenoma and carcinoma susceptibility gene on chromosome 15q14-q22.
      Further studies are needed to confirm this localization and to evaluate the
      contribution of CRAC1 to this disease.
FAU - Tomlinson, I
AU  - Tomlinson I
AD  - Section of Cancer Genetics, Haddow Laboratories, Institute of Cancer Research,
      Sutton, Surrey, England.
FAU - Rahman, N
AU  - Rahman N
FAU - Frayling, I
AU  - Frayling I
FAU - Mangion, J
AU  - Mangion J
FAU - Barfoot, R
AU  - Barfoot R
FAU - Hamoudi, R
AU  - Hamoudi R
FAU - Seal, S
AU  - Seal S
FAU - Northover, J
AU  - Northover J
FAU - Thomas, H J
AU  - Thomas HJ
FAU - Neale, K
AU  - Neale K
FAU - Hodgson, S
AU  - Hodgson S
FAU - Talbot, I
AU  - Talbot I
FAU - Houlston, R
AU  - Houlston R
FAU - Stratton, M R
AU  - Stratton MR
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Gastroenterology
JT  - Gastroenterology
JID - 0374630
SB  - AIM
SB  - IM
MH  - Adenoma/*genetics
MH  - Adult
MH  - Aged
MH  - Carcinoma/*genetics
MH  - *Chromosomes, Human, Pair 15
MH  - Colorectal Neoplasms/*genetics
MH  - Female
MH  - Genetic Linkage
MH  - *Genetic Predisposition to Disease
MH  - Haplotypes
MH  - Humans
MH  - Loss of Heterozygosity
MH  - Male
MH  - Middle Aged
MH  - Mutation
EDAT- 1999/03/26 00:00
MHDA- 1999/03/26 00:01
CRDT- 1999/03/26 00:00
PHST- 1999/03/26 00:00 [pubmed]
PHST- 1999/03/26 00:01 [medline]
PHST- 1999/03/26 00:00 [entrez]
AID - S0016-5085(99)70061-2 [pii]
AID - 10.1016/s0016-5085(99)70061-2 [doi]
PST - ppublish
SO  - Gastroenterology. 1999 Apr;116(4):789-95. doi: 10.1016/s0016-5085(99)70061-2.