An ancestral Ashkenazi haplotype at the HMPS/CRAC1 locus on 15q13-q14 is associated with hereditary mixed polyposis syndrome

American Journal of Human Genetics

Volumn 72, Issue 5, 2003, Pages 1261-1267

  Jaeger, E E M ^a   Woodford Richens, K L ^a   Lockett, M ^d   Rowan, A J ^a   Sawyer, E J ^a   Heinimann, K ^a   Rozen, P ^e   Murday, V A ^c   Whitelaw, S C ^f   Ginsberg, A ^l   Atkin, W S ^d   Lynch, H T ^g   Southey, M C ^h   Debinski, H ⁱ   Eng, C ^j   Bodmer, W F ^k   Talbot, I C ^d   Hodgson, S V ^b   Thomas, H J W ^d   Tomlinson, I P M ^a  

^a IMPERIAL CANCER RESEARCH FUND   (United Kingdom)

^b GUY S HOSPITAL   (United Kingdom)

^c NHS GREATER GLASGOW AND CLYDE   (United Kingdom)

^d ST MARK S HOSPITAL   (United Kingdom)

^e TEL AVIV UNIVERSITY   (Israel)

^f DUMFRIES AND GALLOWAY ROYAL INFIRMARY   (United Kingdom)

^g CREIGHTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^h PETER MACCALLUM CANCER CENTRE   (Australia)

ⁱ CABRINI INSTITUTE   (Australia)

^j OHIO STATE UNIVERSITY   (United States)

^k JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^l NONE

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Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 15Q; CHROMOSOME 6Q; CHROMOSOME MAP; COLON ADENOMA; COLORECTAL CARCINOMA; FAMILY; FEMALE; GENE LOCATION; GENE LOCUS; GENE MAPPING; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; GENOME ANALYSIS; HAPLOTYPE; HEREDITARY MIXED POLYPOSIS SYNDROME; HETEROZYGOSITY LOSS; HUMAN; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MALE; MICROSATELLITE MARKER; PEDIGREE; PHENOTYPE; POLYPOSIS; PRIORITY JOURNAL; RECTUM ADENOMA;

EID: 0037730140     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/375144     Document Type: Article

References (10)

1. Cottingham R, Idury R, Schaeffer A (1993) Faster sequential genetic linkage computations. Am J Hum Genet 53:252-263
2. Gruber S, Entius M, Petersen G, Laken S, Longo P, Boyer R, Levin A, Mujumdar U, Trent J, Kinzler K, Vogelstein B, Hamilton S, Polymeropoulos M, Offerhaus G, Giardiello F (1998) Pathogenesis of adenocarcinoma in Peutz-Jeghers syndrome. Cancer Res 58:5267-5270
3. Lathrop G, Lalouel J, Julier C, Ott J (1984) Stategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 81:3443-3446
4. Marsh D, Coulon V, Lunetta K, Rocca-Serra P, Dahia P, Zheng Z, Liaw D, et al (1998) Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. Hum Mol Genet 7:507-515
5. O'Connell J, Weeks D (1995) The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recoding and fuzzy inheritance. Nat Genet 11:402-408
6. Thomas H, Whitelaw S, Cottrell S, Murday V, Tomlinson I, Markie D, Jones T, Bishop D, Hodgson S, Sheer D, Northover J, Talbot I, Solomon E, Bodmer W (1996) Genetic mapping of hereditary mixed polyposis syndrome to chromosome 6q. Am J Hum Genet 58:770-776
7. Tomlinson I, Rahman N, Frayling I, Mangion J, Barfoot R, Hamoudi R, Seal S, Northover J, Thomas H, Neale K, Hodgson S, Talbot I, Houlston R, Stratton M (1999) Inherited susceptibility to colorectal adenomas and carcinomas: evidence for a new predisposition gene on15q14-q22. Gastroenterology 116:789-795
8. Wang Z, Ellis I, Zauber P, Iwama T, Marchese C, Talbot I, Xue W, Yah Z, Tomlinson I (1999) Allelic imbalance at the LKB1 (STK11) locus in tumours from patients with Peutz-Jeghers' syndrome provides evidence for a hamartoma-(adenoma)-carcinoma sequence. J Pathol 188:9-13
9. Whitelaw SC, Murday VA, Tomlinson IP, Thomas HJ, Cottrell S, Ginsberg A, Bukofzer S, Hodgson SV, Skudowitz RB, Jass JR, Talbot IC, Northover JM, Bodmer WF, Solomon E (1997) Clinical and molecular features of the hereditary mixed polyposis syndrome. Gastroenterology 112:327-334
10. Woodford-Richens K, Bevan S, Churchman M, Dowling B, Jones D, Norbury CG, Hodgson SV, et al (2000) Analysis of genetic and phenotypic heterogeneity in juvenile polyposis. Gut 46:656-660