Novel mutations in the LKB1/STK11 gene in Dutch Peutz-Jeghers families

Human Mutation

Volumn 13, Issue 6, 1999, Pages 476-481

  Westerman, Anne Marie ^a   Entius, Mark M ^b   Boor, Patrick P C ^a   Koole, Rita ^a   De Baar, Ellen ^a   Offerhaus, G Johan A ^b   Lubinski, Jan ^d   Lindhout, Dick ^c   Halley, Dicky J J ^c   De Rooij, Felix W M ^a   Wilson, J H Paul ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

^c ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^d POMERANIAN MEDICAL UNIVERSITY   (Poland)

Author keywords

Cancer; Gastrointestinal polyposis; LKB1; Mucocutaneous pigmentation; Mutation; Peutz Jeghers syndrome; Serine threonine kinase; STK11

Indexed keywords

PROTEIN SERINE THREONINE KINASE;

ARTICLE; CANCER RISK; CHROMOSOME 19P; DISEASE PREDISPOSITION; ENZYME ACTIVITY; FRAMESHIFT MUTATION; GASTROINTESTINAL POLYPOSIS; GENE AMPLIFICATION; GENE EXPRESSION; GENE MUTATION; GENETIC POLYMORPHISM; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEUTZ JEGHERS SYNDROME; PREDICTION; PRIORITY JOURNAL;

BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 19; FEMALE; GENE DELETION; HUMANS; MALE; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; NETHERLANDS; PEUTZ-JEGHERS SYNDROME; POINT MUTATION; POLYMORPHISM, GENETIC; PROTEIN-SERINE-THREONINE KINASES;

EID: 0033012429     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1999)13:6<476::AID-HUMU7>3.0.CO;2-2     Document Type: Article

References (12)

1. Avizienyte E, Roth S, Loukola A, Hemminki A, Lothe RA, Stenwig AE, Fosså SD, et al. 1998. Somatic mutations in LKB1 are rare in sporadic colorectal and testicular tumors. Cancer Res 58:2087-2090.
2. Flageole H, Raptis S, Trudel JL. 1994. Progression toward malignancy of hamartomas in a patient with Peutz-Jeghers syndrome: case report and literature review. Can J Surg 37:231-236.
3. Hemminki A, Markie D, Tomlinson I, Avizienyte E, Roth S, Loukola A, Bignell G, et al. 1998. A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature 391:184-187.
4. Hemminki A, Tomlinson I, Markie D, Jarvinen H, Sistonen P, Bjorkqvist A-M, Knuutila S, et al. 1997. Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis. Nature Genet 15:87-90.
5. Jenne DE, Reimann H, Nezu J, Friedel W, Loff S, Jeschke R, Muller O, et al. 1998. Peutz-Jeghers is caused by mutations in a novel serine threonine kinase. Nature Genet 18:38-43.
6. Krawczak M, Reiss J, Cooper DN. 1992. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet 90:41-54.
7. Mehenni H, Blouin J-L, Radhakrishna U, Bhardwaj SS, Bhardwaj K, Dixit VB, Richards KF, et al. 1997. Peutz-Jeghers syndrome: confirmation of linkage to chromosome 19p13.3 and identification of a potential second locus, on 19q13.4. Am J Hum Genet 61:1327-1334.
8. Neitzel H. 1986. A routine method for the establishment of permanent growing lymphoblastoid cell lines. Hum Genet 73:320-326.
9. Olschwang S, Markie D, Seal S, Neale K, Phillips R, Cottrell S, Ellis I, et al. 1998. Peutz-Jeghers disease: most, but not all, families are compatible with linkage to 19p13.3. J Med Genet 35:42-44.
10. Peutz JLA. 1921. Over een zeer merkwaardige, gecombineerde familiaire polyposis van de slijmvliezen van den tractus intestinalis met die van de neuskeelholte en gepaard met eigenaardige pigmentaties van huid-en slijmvliezen. Ned Maandschr Gen 10:134-146.
11. Spigelman AD, Phillips RKS. 1994. Peutz-Jeghers syndrome. In: Phillips RKS, Spigelman AD, Thompson JPS, editors. Familial adenomatous polyposis and other polyposis syndromes. London: Edward Arnold. p 188-202.
12. Westerman AM, Entius MM, de Baar E, Boor PPC, Koole R, van Velthuysen MLF, Offerhaus GJA, Lindhout D, et al. 1999. Peutz-Jeghers syndrome: 77-year follow-up of the original family. Lancet 353:1211-1215.