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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, Sonja; Magri, V.; Jakubowska, A.; Vandersickel, V.; Musani, Vesna; Čretnik, Maja; Marras, E.; Perletti, G.; Vral, A.
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

Profili:

Avatar Url Sonja Levanat (autor)

Avatar Url Maja Sabol (autor)

Avatar Url Vesna Musani (autor)


Citiraj ovu publikaciju:

Willems, P.; Levanat, Sonja; Magri, V.; Jakubowska, A.; Vandersickel, V.; Musani, Vesna; Čretnik, Maja; Marras, E.; Perletti, G.; Vral, A.
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)
Willems, P., Levanat, S., Magri, V., Jakubowska, A., Vandersickel, V., Musani, V., Čretnik, M., Marras, E., Perletti, G. & Vral, A. (2008) Molecular and genetic characterization of the T309C missense transversion in BRCA1 codon 64 (C64R). U: Spandidos, D. (ur.)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).
@article{article, author = {Willems, P. and Levanat, Sonja and Magri, V. and Jakubowska, A. and Vandersickel, V. and Musani, Vesna and \v{C}retnik, Maja and Marras, E. and Perletti, G. and Vral, A.}, editor = {Spandidos, D.}, year = {2008}, pages = {S23-S23}, keywords = {BRCA1, transversion, breast cancer}, title = {Molecular and genetic characterization of the T309C missense transversion in BRCA1 codon 64 (C64R)}, keyword = {BRCA1, transversion, breast cancer}, publisher = {Spandidos Publications}, publisherplace = {Hersonissos, Gr\v{c}ka} }
@article{article, author = {Willems, P. and Levanat, Sonja and Magri, V. and Jakubowska, A. and Vandersickel, V. and Musani, Vesna and \v{C}retnik, Maja and Marras, E. and Perletti, G. and Vral, A.}, editor = {Spandidos, D.}, year = {2008}, pages = {S23-S23}, keywords = {BRCA1, transversion, breast cancer}, title = {Molecular and genetic characterization of the T309C missense transversion in BRCA1 codon 64 (C64R)}, keyword = {BRCA1, transversion, breast cancer}, publisher = {Spandidos Publications}, publisherplace = {Hersonissos, Gr\v{c}ka} }

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





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