Pregled bibliografske jedinice broj: 367451
Molecular and genetic characterization of the T309C missense transversion in BRCA1 codon 64 (C64R)
Molecular and genetic characterization of the T309C missense transversion in BRCA1 codon 64 (C64R) // Abstracts of the 13th World Congress on Advances in Oncology and the 11th International Symposium on Molecular Medicine / International Journal of Molecular Medicine 22(Suppl. 1) / Spandidos, D. A. (ur.).
Heraklion: Spandidos Publications, 2008. str. S23-S23 (predavanje, nije recenziran, sažetak, znanstveni)
CROSBI ID: 367451 Za ispravke kontaktirajte CROSBI podršku putem web obrasca
Naslov
Molecular and genetic characterization of the T309C missense transversion in BRCA1 codon 64 (C64R)
Autori
Willems, P. ; Levanat, Sonja ; Magri, V. ; Jakubowska, A. ; Vandersickel, V. ; Musani, Vesna ; Čretnik, Maja ; Marras, E. ; Perletti, G. ; Vral, A.
Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni
Izvornik
Abstracts of the 13th World Congress on Advances in Oncology and the 11th International Symposium on Molecular Medicine / International Journal of Molecular Medicine 22(Suppl. 1)
/ Spandidos, D. A. - Heraklion : Spandidos Publications, 2008, S23-S23
Skup
The 13th World Congress on Advances in Oncology and 11th International Symposium on Molecular Medicine
Mjesto i datum
Hersonissos, Grčka, 09.10.2008. - 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
Projekti:
MZOS-098-0982464-2461 - Prijenos signala u tumorima: Hh-Gli put, interakcije i potencijalne terapije (Levanat, Sonja, MZOS ) ( CroRIS)
Ustanove:
Institut "Ruđer Bošković", Zagreb
Citiraj ovu publikaciju:
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