Wynik wyszukiwania w bazie Polska Bibliografia Lekarska GBL

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Tytuł oryginału: Sex hormone-binding globulin polymorphisms in familial and sporadic breast cancer.
Autorzy: F”rsti Asta, Jin Quinren, Grzybowska Ewa, S”derberg Magnus, Zientek Helena, Siemińska Marzena, Rozgozińska-Szczepka Jadwiga, Chmielik Ewa, Utracka-Hutka Beata, Hemminki Kari
Źródło: Carcinogenesis 2002: 23 (8) s.1315-1320, il., tab., bibliogr. 37 poz.
Sygnatura GBL: 312,779

Hasła klasyfikacyjne GBL:
  • ginekologia i położnictwo
  • onkologia

    Typ dokumentu:
  • praca kliniczna
  • praca opublikowana za granicą
  • tytuł obcojęzyczny

    Wskaźnik treści:
  • ludzie
  • płeć żeńska

    Streszczenie angielskie: Ovarian steroids are one of the strongest risk factors for breast cancer. Sex hormone-binding globulin (SHBG) binds and transports sex steroids in the blood, regulating their bioavailable fraction and access to target cells. It can also inhibit the estradiol-induced proliferation of breast cancer cells through its membrane receptor. Three coding-region polymorphisms, which oead to an amino acid change, have been reported. We studied the influence of these three polymorphisms on breast cancer risk in three different populations: polish familial breast cancer cases, 27 p.c. of them carrying a BRCA1/BRCA2 mutation, Nordic familial and sporadic breast cancer cases. The reported G to A polymorphism in exon 1 was not found in the 423 analyzed samples. Instead, we found a C to T transition causing an arg to cys amino acid change within the same codon in one polish breast cancer patient and her daughter. Both of them were heterozygotes for the exon 8 to A polymorphism as well. They were diagnosed for bilateral breast cancer and carried a BRCA1 mutation (5382insC). Analysis of the tumor samples showed that they had lost the wild-type allele both at exons 1 and 8 of the SHBG gene. Analysis of the other Polish samples showed no correlation of the exon 8 polymorphism to breast cancer, bilateral breast cancer, BRCA1/BRCA2 mutations or age at diagnosis. No association of the exon 8 polymorphism with breast cancer in the Nordic familial or sporadic cases was found. The C to T polymorphism located in exon 4 was rare in all the studied populations (overal allele frequency 0.011)...

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    Tytuł oryginału: Germline mutations in the BRCA1 gene predisposing to breast and ovarian cancers in Upper Silesia population.
    Autorzy: Grzybowska Ewa, Siemińska Marzena, Zientek Helena, Kalinowska Ewa, Michalska Jadwiga, Utracka-Hutka Beata, Rogozińska-Szczepka Jadwiga, Kaźmierczak-Maciejewska Maria
    Źródło: Acta Bioch. Pol. 2002: 49 (2) s.351-356, tab., bibliogr. s. 354-356 - 37 Spotkanie Polskiego Towarzystwa Biochemicznego Toruń 10-14.09. 2001
    Sygnatura GBL: 303,116

    Hasła klasyfikacyjne GBL:
  • onkologia
  • ginekologia i położnictwo
  • genetyka

    Typ dokumentu:
  • tytuł obcojęzyczny
  • praca związana ze zjazdem
  • praca epidemiologiczna

    Wskaźnik treści:
  • płeć żeńska
  • ludzie

    Streszczenie angielskie: Germline mutations in the BRCA1 or BRCA2 genes predispose their cariers to breast or/and ovary cancers during their lifetime. The most frequent mutations: 5382insC, 185delAG, C61G and 4153delA in BRCA1, and 6174delT and 9631delC in BRCA2 were studied in a group of 148 probands admitted for genetic counseling, using allele-specific amplification (ASA) PCR test. Fifteen carriers of three different mutations: 5382insC, 185delAG and C61G in BRCA1 were found. Two families carried the 185delAG mutationand additional two C61G in BRCA1. Nobody carried the mutation 4153delA in BRCA1 nor 617delT or 9631delC in BRCA2. Most of the carriers of a germline mutation were observed among the patients who developed bilateral breast cancer (17 p.c.). The lowest frequency of the germline mutations was found inthe healthy persons who had two or more relatives affected with breast or ovarian cancer.

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