Complete germline deletion of the STK11 gene in a family with Peutz-Jeghers syndrome

European Journal of Human Genetics

Volumn 12, Issue 5, 2004, Pages 415-418

  Le Meur, Nathalie ^a,b   Martin, Cosette ^a   Saugier Veber, Pascale ^a   Joly, Géraldine ^a   Lemoine, Françoise ^a   Moirot, Hélène ^a   Rossi, Annick ^a   Bachy, Bruno ^a   Cabot, Annick ^a   Joly, Pascal ^a   Frébourg, Thierry ^a,b  

^a ROUEN UNIVERSITY HOSPITAL   (France)

^b INSERM   (France)

Author keywords

Deletion; Peutz Jeghers syndrome; QMPSF; STK11

Indexed keywords

MELANIN; PROTEIN KINASE LKB1; TUMOR SUPPRESSOR PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; BREAST CANCER; CHROMOSOME 19P; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; FAMILIAL DISEASE; FEMALE; FLUORESCENCE ANALYSIS; FLUORESCENCE IN SITU HYBRIDIZATION; GASTROINTESTINAL DISEASE; GENE DELETION; GENE LOCUS; GENETIC ANALYSIS; GERM LINE; HAMARTOMA; HETEROZYGOSITY; HUMAN; MALE; MICROSATELLITE MARKER; MOUTH MUCOSA; PEUTZ JEGHERS SYNDROME; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS;

ADOLESCENT; ADULT; CHROMOSOMES, HUMAN, PAIR 19; DNA; DNA MUTATIONAL ANALYSIS; EXONS; FAMILY HEALTH; FEMALE; GENE DELETION; GERM-LINE MUTATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MICROSATELLITE REPEATS; MIDDLE AGED; NEUROFIBROMATOSIS 1; PEUTZ-JEGHERS SYNDROME; POLYMERASE CHAIN REACTION; PROTEIN-SERINE-THREONINE KINASES;

EID: 2442681701     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201155     Document Type: Article

References (23)

1. Linder NM, Greene MH: The concise hanbook of family cancer syndromes. J Natl Cancer Inst 1998; 90: 1039-1071.
2. Järvinen HJ: Genetic testing for polyposis: practical and ethical aspects. Gut 2003; 52: 19-22.
3. Grady WM: Genetic testing for high-risk colon cancer patients. Gastroenterology 2003; 124: 1574-1594.
4. McGarrity TJ, Kulin HE, Zaino RJ: Peutz-Jeghers syndrome. Am J Gastroenterol 2000; 95: 596-604.
5. Hemminki A, Tomlinson I, Markie D et al: Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis. Nat Genet 1997; 15: 87-90.
6. Amos CI, Bali D, Thiel TJ et al: Fine mapping of a genetic locus for Peutz-Jeghers syndrome on chromosome 19p. Cancer Res 1997; 57: 3653-3656.
7. Hemminki A, Markie D, Tomlinson I et al: A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature 1998; 391: 184-187.
8. Jenne DE, Reimann H, Nezu J et al: Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase. Nat Genet 1998; 18: 38-43.
9. Tiainen M, Ylikorkala A, Makela TP: Growth suppression by Lkb1 is mediated by a G(1) cell cycle arrest. Proc Natl Acad Sci USA 1999; 96: 9248-9251.
10. Karuman P, Gozani O, Odze RD et al: The Peutz-Jegher gene product LKB1 is a mediator of p53-dependent cell death. Mol Cell 2001; 7: 1307-1319.
11. Ylikorkala A, Rossi DJ, Korsisaari N et al: Vascular abnormalities and deregulation of VEGF in Lkb1-deficient mice. Science 2001; 293: 1323-1326.
12. Spicer J, Rayter S, Young N, Elliott R, Ashworth A, Smith D: Regulation of the Wnt signalling component PAR1A by the Peutz-Jeghers syndrome kinase LKB1. Oncogene 2003; 22: 4752-4756.
13. Mehenni H, Gehrig C, Nezu J et al: Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity. Am J Hum Genet 1998; 63: 1641-1650.
14. Nakagawa H, Koyama K, Miyoshi Y et al: Nine novel germline mutations of STK11 in ten families with Peutz-Jeghers syndrome. Hum Genet 1998; 103: 168-172.
15. Miyaki M, Iijima T, Hosono K et al: Somatic mutations of LKB1 and beta-catenin genes in gastrointestinal polyps from patients with Peutz-Jeghers syndrome. Cancer Res 2000; 60: 6311-6313.
16. Ylikorkala A, Avizienyte E, Tomlinson IP et al: Mutations and impaired function of LKB1 in familial and non-familial Peutz-Jeghers syndrome anda sporadic testicular cancer. Hum Mol Genet 1999; 8: 45-51.
17. Olschwang S, Boisson C, Thomas G: Peutz-Jeghers families unlinked to STK11/LKB1 gene mutations are highly predisposed to primitive biliary adenocarcinoma. J Med Genet 2001; 38: 356-360.
18. Lim W, Hearle N, Shah B et al: Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome. Br J Cancer 2003; 89: 308-313.
19. Scott RJ, Crooks R, Meldrum CJ et al: Mutation analysis of the STK11/LKB1 gene and clinical characteristics of an Australian series of Peutz-Jeghers syndrome patients. Clin Genet 2002; 62: 282-287.
20. Mehenni H, Blouin JL, Radhakrishna U et al: Peutz-Jeghers syndrome: confirmation of linkage to chromosome 19p13.3 and identification of a potential second locus, on 19q13.4. Am J Hum Genet 1997; 61: 1327-1334.
21. Olschwang S, Markie D, Seal S et al: Peutz-Jeghers disease: most, but not all, families are compatible with linkage to 19p13.3. J Med Genet 1998; 35: 42-44.
22. Charbonnier F, Raux G, Wang Q et al: Detection of exon deletions and duplications of the mismatch repair genes in hereditary nonpolyposis colorectal cancer families using multiplex polymerase chain reaction of short fluorescent fragments. Cancer Res 2000; 60: 2760-2763.
23. Jiang CY, Esufali S, Berk T et al: STK11/LKB1 germline mutations are not identified in most Peutz-Jeghers syndrome patients. Clin Genet 1999; 56: 136-141.