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Titolo:
Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutchpedigree
Autore:
Wagner, A; Hendriks, Y; Meijers-Heijboer, EJ; de Leeuw, WJF; Morreau, H; Hofstra, R; Tops, C; Bik, E; Brocker-Vriends, AHJT; van der Meer, C; Lindhout, D; Vasen, HFA; Breuning, MH; Cornelisse, CJ; van Krimpen, C; Niermeijer, MF; Zwinderman, AH; Wijnen, J; Fodde, R;
Indirizzi:
Leiden State Univ, Med Ctr, Dept Human & Clin Genet, NL-2333 AL Leiden, Netherlands Leiden State Univ Leiden Netherlands NL-2333 AL 3 AL Leiden, Netherlands Erasmus Univ, Dept Clin Genet, NL-3000 DR Rotterdam, Netherlands Erasmus Univ Rotterdam Netherlands NL-3000 DR DR Rotterdam, Netherlands Leiden State Univ, Med Ctr, Dept Pathol, NL-2333 AL Leiden, Netherlands Leiden State Univ Leiden Netherlands NL-2333 AL 3 AL Leiden, Netherlands Univ Groningen Hosp, Dept Med Genet, Groningen, Netherlands Univ GroningenHosp Groningen Netherlands Genet, Groningen, Netherlands Univ Utrecht, Med Ctr, Dept Med Genet, Utrecht, Netherlands Univ Utrecht Utrecht Netherlands , Dept Med Genet, Utrecht, Netherlands Reinier de Graaf Gasthuis, SSDZ, Dept Pathol, Delft, Netherlands Reinier de Graaf Gasthuis Delft Netherlands Pathol, Delft, Netherlands
Titolo Testata:
JOURNAL OF MEDICAL GENETICS
fascicolo: 5, volume: 38, anno: 2001,
pagine: 318 - 322
SICI:
0022-2593(200105)38:5<318:AHOTMG>2.0.ZU;2-E
Fonte:
ISI
Lingua:
ENG
Soggetto:
NONPOLYPOSIS COLORECTAL-CANCER; MICROSATELLITE INSTABILITY; COLON-CANCER; GENE; ENDOMETRIAL; FAMILIES; SUSCEPTIBILITY; ASSOCIATION; CARCINOMAS; SEQUENCES;
Keywords:
hereditary non-polyposis colorectal cancer; MSH6;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
24
Recensione:
Indirizzi per estratti:
Indirizzo: Fodde, R Leiden State Univ, Med Ctr, Dept Human & Clin Genet, Wassenaarseweg 72, NL-2333 AL Leiden, Netherlands Leiden State Univ Wassenaarseweg 72 Leiden Netherlands NL-2333 AL
Citazione:
A. Wagner et al., "Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutchpedigree", J MED GENET, 38(5), 2001, pp. 318-322

Abstract

Hereditary non-polyposis colorectal cancer (HNPCC) is the most common genetic susceptibility syndrome for colorectal cancer. HNPCC is most frequentlycaused by germline mutations in the DNA mis-match repair (MMR) genes MSH2 and MLH1. Recently, mutations in another MMR gene, MSH6 (also known as GTBP), have also been shown to result in HNPCC. Preliminary data indicate that the phenotype related to MSH6 mutations may differ from the classical HNPCCcaused by defects in MSH2 and MLH1. Here, we describe an extended Dutch HNPCC family not fulfilling the Amsterdam criteria II and resulting from a MSH6 mutation. Overall, the penetranceof colorectal cancer appears to be significantly decreased (p<0.001) amongthe MSH6 mutation carriers in this family when compared with MSH2 and MLHIcarriers (32% by the age of 80 v <greater than>80%). Endometrial cancer is a frequent manifestation among female carriers (six out of 13 malignant tumours). Transitional cell Abstract Hereditary non-polyposis colorectal cancer (HNPCC) is the most common genetic susceptibility syndrome for colorectal Department of Pathology, Leiden University Medical Centre, The carcinoma of the urinary tract is relatively common in both male female carriers (10% of the carriers). Moreover, the mean age of onset of both colorectal cancer (MSH6 v MSH2/MLH1 = 55 years v 44/41 years) and endometrial carcinomas (MSH6 v MSH2/MLH1 = 55 years v 49/48 years) is delayed. As previously reported, we confirm thatthe pattern of microsatellite instability, in combination with immunohistochemical analysis, can predict the presence of a MSH6 germline defect. The detailed characterisation of the clinical phenotype of this kindred contributes to the establishment of genotype-phenotype correlations in HNPCC owing to mutations in specific mismatch repair genes.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 24/11/20 alle ore 13:44:58