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Titolo:
Genetic analysis of a breast-ovarian cancer family, with 7 cases of colorectal cancer linked to BRCA1, fails to support a role for BRCA1 in colorectal tumorigenesis
Autore:
Peelen, T; de Leeuw, W; van Lent, K; Morreau, H; van Eijk, R; van Vliet, M; Wijnen, J; Ligtenberg, M; Ginjaar, HB; Zweemer, R; Menko, F; Fodde, R; van Ommen, GJB; Vasen, HFA; Cornelisse, CJ; Devilee, P;
Indirizzi:
Leiden Univ, Med Ctr, Dept Human & Clin Genet, NL-2333 AL Leiden, Netherlands Leiden Univ Leiden Netherlands NL-2333 AL NL-2333 AL Leiden, Netherlands Leiden Univ, Med Ctr, Dept Pathol, NL-2333 AL Leiden, Netherlands Leiden Univ Leiden Netherlands NL-2333 AL NL-2333 AL Leiden, Netherlands Univ Nijmegen Hosp, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Univ Nijmegen Hosp Nijmegen Netherlands NL-6500 HB Nijmegen, Netherlands Univ Nijmegen Hosp, Dept Pathol, NL-6500 HB Nijmegen, Netherlands Univ Nijmegen Hosp Nijmegen Netherlands NL-6500 HB Nijmegen, Netherlands Free Univ Amsterdam Hosp, Dept Obstet & Gynecol, Amsterdam, Netherlands Free Univ Amsterdam Hosp Amsterdam Netherlands , Amsterdam, Netherlands Free Univ Amsterdam Hosp, Dept Clin Genet, Amsterdam, Netherlands Free Univ Amsterdam Hosp Amsterdam Netherlands , Amsterdam, Netherlands Leiden Univ, Med Ctr, Fdn Detect Hereditary Tumors, NL-2333 AL Leiden, Netherlands Leiden Univ Leiden Netherlands NL-2333 AL NL-2333 AL Leiden, Netherlands
Titolo Testata:
INTERNATIONAL JOURNAL OF CANCER
fascicolo: 5, volume: 88, anno: 2000,
pagine: 778 - 782
SICI:
0020-7136(200012)88:5<778:GAOABC>2.0.ZU;2-J
Fonte:
ISI
Lingua:
ENG
Soggetto:
GRADIENT-GEL-ELECTROPHORESIS; GERM-LINE MUTATIONS; ADENOMATOUS POLYPOSIS; MALIGNANT-TUMORS; RAPID DETECTION; ALLELE LOSS; APC GENE; CARRIERS; DNA; KINDREDS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
30
Recensione:
Indirizzi per estratti:
Indirizzo: Devilee, P Leiden Univ, Med Ctr, Dept Human & Clin Genet, Wassenaarseweg 72, NL-2333 AL Leiden, Netherlands Leiden Univ Wassenaarseweg 72 Leiden Netherlands NL-2333 AL ds
Citazione:
T. Peelen et al., "Genetic analysis of a breast-ovarian cancer family, with 7 cases of colorectal cancer linked to BRCA1, fails to support a role for BRCA1 in colorectal tumorigenesis", INT J CANC, 88(5), 2000, pp. 778-782

Abstract

Mutations in the BRCA1 gene cause strongly elevated risks of breast and ovarian cancers but may also confer a 3-fold increased risk for colorectal cancer. To address the relationship between BRCA1 carriership and colorectal tumorigenesis, we studied the genetics of a breast-ovarian cancer family with 7 cases of colorectal cancer. A germline 3938insG mutation in BRCA1 was found in 5 breast-cancer patients, I with ductal carcinoma in site, ovariancancer and an adenoma of the colon, and in 4/5 colorectal-cancer patients investigated. However, the youngest patient, diagnosed at age 23, was a non-carrier. Loss of the wild-type BRCA1 allele was observed in 3/3 breast tissues (2 breast carcinomas and I ductal carcinoma in situ) but in 0/6 colorectal tissues (5 carcinomas and I adenoma), suggesting that BRCA1 loss is not critical for colorectal tumorigenesis. To examine the possibility that anas yet unknown gene linked to BRCA1 was involved in the colorectal cancers, chromosome 17 segregation was studied with 7 polymorphic markers encompassing a 20 cM region including BRCA1. None of these markers showed complete allele sharing among all 5 colorectal-cancer patients studied. Clinical history, mutation analysis and microsatellite instability analysis excluded a role for any of the known colorectal-cancer susceptibility genes. In 4 other Dutch families carrying the same BRCA I mutation, only I colorectal-cancer case was reported, of which the carrier status is unknown.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 04/12/20 alle ore 19:26:05