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Titolo:
Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1
Autore:
Ricciardone, MD; Ozcelik, T; Cevher, B; Ozdag, H; Tuncer, M; Gurgey, A; Uzunalimoglu, O; Cetinkaya, H; Tanyeli, A; Erken, E; Ozturk, M;
Indirizzi:
Bilkent Univ, Fac Sci, Dept Mol Biol & Genet, TR-06533 Ankara, Turkey Bilkent Univ Ankara Turkey TR-06533 iol & Genet, TR-06533 Ankara, Turkey Univ Hacettepe, Sch Med, Dept Pediat, TR-06100 Ankara, Turkey Univ Hacettepe Ankara Turkey TR-06100 pt Pediat, TR-06100 Ankara, Turkey Ankara Univ, Sch Med, Dept Internal Med, TR-06100 Ankara, Turkey Ankara Univ Ankara Turkey TR-06100 Internal Med, TR-06100 Ankara, Turkey Cukurova Univ, Sch Med, Dept Pediat, TR-01330 Adana, Turkey Cukurova UnivAdana Turkey TR-01330 Dept Pediat, TR-01330 Adana, Turkey Cukurova Univ, Sch Med, Dept Internal Med, TR-01330 Adana, Turkey CukurovaUniv Adana Turkey TR-01330 Internal Med, TR-01330 Adana, Turkey
Titolo Testata:
CANCER RESEARCH
fascicolo: 2, volume: 59, anno: 1999,
pagine: 290 - 293
SICI:
0008-5472(19990115)59:2<290:HMDPTH>2.0.ZU;2-H
Fonte:
ISI
Lingua:
ENG
Soggetto:
NONPOLYPOSIS COLORECTAL-CANCER; MISMATCH REPAIR DEFICIENCY; MICROSATELLITE INSTABILITY; MUTATOR PHENOTYPE; MUTATIONS; HNPCC; CELLS; HMSH2; HMLH1; GENE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
22
Recensione:
Indirizzi per estratti:
Indirizzo: Ozturk, M Bilkent Univ, Fac Sci, Dept Mol Biol & Genet, TR-06533 Ankara, Turkey Bilkent Univ Ankara Turkey TR-06533 t, TR-06533 Ankara, Turkey
Citazione:
M.D. Ricciardone et al., "Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1", CANCER RES, 59(2), 1999, pp. 290-293

Abstract

Heterozygous germ-line mutations in the DNA mismatch repair genes lead to hereditary nonpolyposis colorectal cancer, The disease susceptibility of individuals who constitutionally lack both wild-type alleles is unknown. We have identified three offspring in a hereditary nonpolyposis colorectal cancer family who developed hematological malignancy at a very early age, and at least two of them displayed signs of neurofibromatosis type 1(NF1), DNA sequence analysis and allele-specific amplification in two siblings revealeda homozygous MLH1 mutation (C676T-->Arg226Stop). Thus, a homozygous germ-line MLH1 mutation and consequent mismatch repair deficiency results in a mutator phenotype characterized by leukemia and/or lymphoma associated with neurofibromatosis type 1.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 07/07/20 alle ore 15:42:04