Literature DB >> 9288765

Fine mapping of a genetic locus for Peutz-Jeghers syndrome on chromosome 19p.

C I Amos1, D Bali, T J Thiel, J P Anderson, I Gourley, M L Frazier, P M Lynch, M A Luchtefeld, A Young, T J McGarrity, M F Seldin.   

Abstract

Peutz-Jeghers syndrome (PJS) was recently mapped in a single report to the telomeric region of chromosome 19p (A. Hemminki et al., Nat. Genet., 15: 87-90, 1997). Our studies confirm this location and provide further localization of the PJS locus. In the five families examined, there were no recombinants with the marker D19S886. The multipoint log odds score at D19S886 is 7.52, and we found no evidence for genetic heterogeneity. We also found that all carriers expressed the PJS phenotype and no noncarriers displayed PJS sequellae, indicating complete penetrance with no sporadic cases.

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Year:  1997        PMID: 9288765

Source DB:  PubMed          Journal:  Cancer Res        ISSN: 0008-5472            Impact factor:   12.701


  17 in total

Review 1.  Anal squamous cell carcinoma in a patient with Peutz-Jeghers syndrome.

Authors:  B Mullhaupt; P Bauerfeind; M O Kurrer; M Fried
Journal:  Dig Dis Sci       Date:  2001-02       Impact factor: 3.199

2.  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

3.  Total gastrointestinal endoscopy in the management of Peutz-Jeghers syndrome.

Authors:  N De Luca; Y Chia; D A Gorard
Journal:  Postgrad Med J       Date:  1998-12       Impact factor: 2.401

4.  Germline and somatic mutations of the STK11/LKB1 Peutz-Jeghers gene in pancreatic and biliary cancers.

Authors:  G H Su; R H Hruban; R K Bansal; G S Bova; D J Tang; M C Shekher; A M Westerman; M M Entius; M Goggins; C J Yeo; S E Kern
Journal:  Am J Pathol       Date:  1999-06       Impact factor: 4.307

5.  The patients with Peutz-Jeghers syndrome have a high risk of developing cancer.

Authors:  Cengiz Tavusbay; Turan Acar; Haldun Kar; Kemal Atahan; Erdinç Kamer
Journal:  Turk J Surg       Date:  2018-01-03

6.  5'-CpG island methylation of the LKB1/STK11 promoter and allelic loss at chromosome 19p13.3 in sporadic colorectal cancer.

Authors:  J Trojan; A Brieger; J Raedle; M Esteller; S Zeuzem
Journal:  Gut       Date:  2000-08       Impact factor: 23.059

7.  Frequent loss of heterozygosity at the 19p13.3 locus without LKB1/STK11 mutations in human carcinoma metastases to the brain.

Authors:  S B Sobottka; M Haase; G Fitze; M Hahn; H K Schackert; G Schackert
Journal:  J Neurooncol       Date:  2000-09       Impact factor: 4.130

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

Review 9.  Molecular approach to genetic and epigenetic pathogenesis of early-onset colorectal cancer.

Authors:  Gulcin Tezcan; Berrin Tunca; Secil Ak; Gulsah Cecener; Unal Egeli
Journal:  World J Gastrointest Oncol       Date:  2016-01-15

10.  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

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