Literature DB >> 9475093

Peutz-Jeghers disease: most, but not all, families are compatible with linkage to 19p13.3.

S Olschwang1, D Markie, S Seal, K Neale, R Phillips, S Cottrell, I Ellis, S Hodgson, P Zauber, A Spigelman, T Iwama, S Loff, C McKeown, C Marchese, J Sampson, S Davies, I Talbot, J Wyke, G Thomas, W Bodmer, A Hemminki, E Avizienyte, A de la Chapelle, L Aaltonen, I Tomlinson.   

Abstract

A locus for Peutz-Jeghers syndrome (PJS) was recently mapped to chromosome 19p13.3. Each of 12 families studied was compatible with linkage to the marker D19S886. We have analysed 20 further families and found that the majority of these are consistent with a PJS gene on 19p13.3. Three families were, however, unlinked to 19p13.3 and none of the available PJS polyps from these families showed allele loss at D19S886. There were no obvious clinicopathological or ethnic differences between the 19p13.3 linked and unlinked families. There appears, therefore, to be a major PJS locus on chromosome 19p13.3 and the possibility exists of a minor locus (or loci) elsewhere.

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Year:  1998        PMID: 9475093      PMCID: PMC1051185          DOI: 10.1136/jmg.35.1.42

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  6 in total

1.  A pericentric inversion of chromosome six in a patient with Peutz-Jeghers' syndrome and the use of FISH to localise the breakpoints on a genetic map.

Authors:  D Markie; S Huson; E Maher; A Davies; I Tomlinson; W F Bodmer
Journal:  Hum Genet       Date:  1996-08       Impact factor: 4.132

2.  Testing candidate loci on chromosomes 1 and 6 for genetic linkage to Peutz-Jeghers' disease.

Authors:  I P Tomlinson; S Olschwang; D Abelovitch; Y Nakamura; W F Bodmer; G Thomas; D Markie
Journal:  Ann Hum Genet       Date:  1996-09       Impact factor: 1.670

3.  Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome.

Authors:  D Liaw; D J Marsh; J Li; P L Dahia; S I Wang; Z Zheng; S Bose; K M Call; H C Tsou; M Peacocke; C Eng; R Parsons
Journal:  Nat Genet       Date:  1997-05       Impact factor: 38.330

Review 4.  Polyposis: the Peutz-Jeghers syndrome.

Authors:  A D Spigelman; P Arese; R K Phillips
Journal:  Br J Surg       Date:  1995-10       Impact factor: 6.939

5.  Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis.

Authors:  A Hemminki; I Tomlinson; D Markie; H Järvinen; P Sistonen; A M Björkqvist; S Knuutila; R Salovaara; W Bodmer; D Shibata; A de la Chapelle; L A Aaltonen
Journal:  Nat Genet       Date:  1997-01       Impact factor: 38.330

6.  PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer.

Authors:  J Li; C Yen; D Liaw; K Podsypanina; S Bose; S I Wang; J Puc; C Miliaresis; L Rodgers; R McCombie; S H Bigner; B C Giovanella; M Ittmann; B Tycko; H Hibshoosh; M H Wigler; R Parsons
Journal:  Science       Date:  1997-03-28       Impact factor: 47.728

  6 in total
  16 in total

1.  Somatic mutations in the STK11/LKB1 gene are uncommon in rare gynecological tumor types associated with Peutz-Jegher's syndrome.

Authors:  D C Connolly; H Katabuchi; W A Cliby; K R Cho
Journal:  Am J Pathol       Date:  2000-01       Impact factor: 4.307

2.  Breakpoint determination of 15 large deletions in Peutz-Jeghers subjects.

Authors:  Nicoletta Resta; Roberto Giorda; Rosanna Bagnulo; Silvana Beri; Erika Della Mina; Alessandro Stella; Marilidia Piglionica; Francesco Claudio Susca; Ginevra Guanti; Orsetta Zuffardi; Roberto Ciccone
Journal:  Hum Genet       Date:  2010-07-11       Impact factor: 4.132

Review 3.  Clinical genetics of multiple endocrine neoplasias, Carney complex and related syndromes.

Authors:  C A Stratakis
Journal:  J Endocrinol Invest       Date:  2001-05       Impact factor: 4.256

4.  Germline mutations of the LKB1 (STK11) gene in Peutz-Jeghers patients.

Authors:  Z J Wang; M Churchman; E Avizienyte; C McKeown; S Davies; D G Evans; A Ferguson; I Ellis; W H Xu; Z Y Yan; L A Aaltonen; I P Tomlinson
Journal:  J Med Genet       Date:  1999-05       Impact factor: 6.318

5.  Molecular and clinical characteristics in 46 families affected with Peutz-Jeghers syndrome.

Authors:  Hamid Mehenni; Nicoletta Resta; Ginevra Guanti; Louisa Mota-Vieira; Aaron Lerner; Mohammed Peyman; Kim A Chong; Larbi Aissa; Ali Ince; Angel Cosme; Michael C Costanza; Colette Rossier; Uppala Radhakrishna; Randall W Burt; Didier Picard
Journal:  Dig Dis Sci       Date:  2007-04-03       Impact factor: 3.199

6.  Molecular genetic alterations in hamartomatous polyps and carcinomas of patients with Peutz-Jeghers syndrome.

Authors:  M M Entius; J J Keller; A M Westerman; B P van Rees; M L van Velthuysen; A F de Goeij; J H Wilson; F M Giardiello; G J Offerhaus
Journal:  J Clin Pathol       Date:  2001-02       Impact factor: 3.411

7.  Peutz-Jeghers families unlinked to STK11/LKB1 gene mutations are highly predisposed to primitive biliary adenocarcinoma.

Authors:  S Olschwang; C Boisson; G Thomas
Journal:  J Med Genet       Date:  2001-06       Impact factor: 6.318

8.  Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity.

Authors:  H Mehenni; C Gehrig; J Nezu; A Oku; M Shimane; C Rossier; N Guex; J L Blouin; H S Scott; S E Antonarakis
Journal:  Am J Hum Genet       Date:  1998-12       Impact factor: 11.025

9.  Genotype-phenotype correlations in Peutz-Jeghers syndrome.

Authors:  C I Amos; M B Keitheri-Cheteri; M Sabripour; C Wei; T J McGarrity; M F Seldin; L Nations; P M Lynch; H H Fidder; E Friedman; M L Frazier
Journal:  J Med Genet       Date:  2004-05       Impact factor: 6.318

10.  Mutations in STK11 gene in Czech Peutz-Jeghers patients.

Authors:  Peter Vasovcák; Alena Puchmajerová; Jan Roubalík; Anna Krepelová
Journal:  BMC Med Genet       Date:  2009-07-19       Impact factor: 2.103

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