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Pregled bibliografske jedinice broj: 367451

Molecular and genetic characterization of the T309C missense transversion in BRCA1 codon 64 (C64R)


Willems, P; Levanat, S; Magri, V; Jakubowska, A; Vandersickel, V; Musani, V; Cretnik, M; Marras, E; Perletti, G; Vral, A
Molecular and genetic characterization of the T309C missense transversion in BRCA1 codon 64 (C64R) // International Journal of Molecular Medicine / Spandidos DA (ur.).
Heraklion, Grčka: Lychnia, 2008. str. S23-S23 (predavanje, nije recenziran, sažetak, znanstveni)


Naslov
Molecular and genetic characterization of the T309C missense transversion in BRCA1 codon 64 (C64R)

Autori
Willems, P ; Levanat, S ; Magri, V ; Jakubowska, A ; Vandersickel, V ; Musani, V ; Cretnik, M ; Marras, E ; Perletti, G ; Vral, A

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
International Journal of Molecular Medicine / Spandidos DA - Heraklion, Grčka : Lychnia, 2008, S23-S23

Skup
The 13th World Congress on Advances in Oncology, and 11th International Symposium on Molecular Medicine

Mjesto i datum
Hersonisos, Kreta, Grčka, 9-11.10.2008

Vrsta sudjelovanja
Predavanje

Vrsta recenzije
Nije recenziran

Ključne riječi
BRCA1; transversion; breast cancer

Sažetak
In the Milan area (Northern Italy) we have identified a family characterized by a high prevalence of ovary and breast cancer cases (5 out of 6 subjects over 3 generations, 83, 3%) in the mother lineage of a healthy male proband of 50 years of age. Analysis of BRCA1 and BRCA2 genes revealed the presence of a missense T309C transversion in the codon 64 of BRCA1. The aims of the present investigation were: (i) to characterize the functional consequences of the C64R substitution at the molecular level, and (ii) to study whether additional mutations or polymorphisms may be linked to the peculiar phenotypic features observed in the Italian pedigree.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti



POVEZANOST RADA


Projekt / tema
098-0982464-2461 - Prijenos signala u tumorima: Hh-Gli put, interakcije i potencijalne terapije (Sonja Levanat, )

Ustanove
Institut "Ruđer Bošković", Zagreb

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE