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Titolo:
High frequency of recurrent mutations in BRCA1 and BRCA2 genes in Polish families with breast and ovarian cancer
Autore:
Grzybowska, E; Zientek, H; Jasinska, A; Rusin, M; Kozlowski, P; Sobczak, K; Sikorska, A; Kwiatkowska, E; Gorniak , L; Kalinowska, E; Utracka-Hutka, B; Wloch, J; Chmielik, E; Krzyzosiak, WJ;
Indirizzi:
Polish Acad Sci, Inst Bioorgan Chem, Canc Genet Lab, PL-61704 Poznan, Poland Polish Acad Sci Poznan Poland PL-61704 enet Lab, PL-61704 Poznan, Poland Maria Sklodowska Curie Mem Inst, Ctr Oncol, Dept Tumor Biol, Gliwice, Poland Maria Sklodowska Curie Mem Inst Gliwice Poland or Biol, Gliwice, Poland Maria Sklodowska Curie Mem Inst, Ctr Oncol, Chemotherapy Clin, Gliwice, Poland Maria Sklodowska Curie Mem Inst Gliwice Poland py Clin, Gliwice, Poland Maria Sklodowska Curie Mem Inst, Ctr Oncol, Surg Clin, Gliwice, Poland Maria Sklodowska Curie Mem Inst Gliwice Poland rg Clin, Gliwice, Poland Maria Sklodowska Curie Mem Inst, Ctr Oncol, Dept Pathol, Gliwice, Poland Maria Sklodowska Curie Mem Inst Gliwice Poland Pathol, Gliwice, Poland
Titolo Testata:
HUMAN MUTATION
fascicolo: 6, volume: 16, anno: 2000,
pagine: 482 - 490
SICI:
1059-7794(2000)16:6<482:HFORMI>2.0.ZU;2-G
Fonte:
ISI
Lingua:
ENG
Soggetto:
GERM-LINE MUTATIONS; SUSCEPTIBILITY GENE; ASHKENAZI JEWS; RISK; IDENTIFICATION; POPULATION; PATIENT; TP53; PCR;
Keywords:
hereditary breast-ovarian cancer; BRCA1; BRCA2; TP53; p53; Li-Fraumeni syndrome; LFS; recurrent mutations; Poland;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
33
Recensione:
Indirizzi per estratti:
Indirizzo: Krzyzosiak, WJ Polish Acad Sci, Inst Bioorgan Chem, Canc Genet Lab, Noskowskiego 12-14, PL-61704 Poznan, Poland Polish Acad Sci Noskowskiego 12-14 Poznan Poland PL-61704
Citazione:
E. Grzybowska et al., "High frequency of recurrent mutations in BRCA1 and BRCA2 genes in Polish families with breast and ovarian cancer", HUM MUTAT, 16(6), 2000, pp. 482-490

Abstract

Germ-line mutations in BRCA1 and BRCA2 genes result in a significantly increased risk of breast and ovarian cancer, Other genes involved in an increased predisposition to breast cancer include the TP53 gene, mutated in Li-Fraumeni syndrome. To estimate the frequency of germline mutations in these three genes in Upper Silesia, we have analyzed 47 breast/ovarian cancer families from that region. We found five different disease predisposing mutations in 17 (36%) families. Twelve families (25.5%) carried known BRCA1 mutations (5382insC and C61G), four families (8.5%) carried novel BRCA2 mutations(9631delC and 6886delGAAAA), and one family (2%) harbored novel mutation 1095del8 in the TP53 gene, which is the largest germline deletion in coding sequence of this gene identified thus far, The 5382insC mutation in BRCA1 was found in 11 families and the 9631delC mutation in BRCA2 occurred in three families. These two mutations taken together contribute to 82% of all mutations found in this study, and 30% of the families investigated harbor oneof these mutations. The very high frequency of common mutations observed in these families can only be compared to that reported for Ashkenazi Jewish, Icelandic, and Russian high-risk families. This frequency, however, may not be representative for the entire Polish population. The observed distribution of mutations will favor routine pre-screening of predisposed familiesusing a simple and cost-effective test. Hum Mutat 16:482-490, 2000. (C) 2000 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 27/09/20 alle ore 13:42:34