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Akademický článek

Insights from 25 years of oncogenetics: one person’s perspective

Autor: Eitan Friedman

Publikováno v: Frontiers in Genetics, Vol 14 (2023)

In early 1995, I established the oncogenetics service at the Genetics Institute of the Sheba Medical Center in Israel. The purpose of this article is to describe the key points and issues that were raised throughout my personal journey since then: ph

Externí odkaz: https://doaj.org/article/86b0f36629844e0e875f9aa448545136

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Population‐based screening of Uruguayan Ashkenazi Jews for recurrent BRCA1 and BRCA2 pathogenic sequence variants

Autor: Cecilia Castillo, Nora Artagaveytia, Lucia Brignoni, Yael Laitman, Natalia Camejo, Ana Laura Hernández, Gabriel Krygier, Alfonso Cayota, Lucia Delgado, Eitan Friedman

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 10, Iss 6, Pp n/a-n/a (2022)

Abstract In Ashkenazi Jews (AJ) three recurring pathogenic sequence variants (PSVs) are detected in ~2.5% of the general population in the BRCA1 (c.68_69del = 185delAG, c.5266dup = 5382insC), and BRCA2 (c.5946del = 6174delT). Population‐based scree

Externí odkaz: https://doaj.org/article/48d7434207b44001811e94cd83557d37

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Analysis of the pathogenic variants of BRCA1 and BRCA2 using next-generation sequencing in women with familial breast cancer: a case–control study

Autor: Omar Alejandro Zayas-Villanueva, Luis Daniel Campos-Acevedo, José de Jesús Lugo-Trampe, David Hernández-Barajas, Juan Francisco González-Guerrero, María Fernanda Noriega-Iriondo, Ilse Alejandra Ramírez-Sánchez, Laura Elia Martínez-de-Villarreal

Publikováno v: BMC Cancer, Vol 19, Iss 1, Pp 1-8 (2019)

Abstract Background Pathogenic variants (PVs) of BRCA genes entail a lifetime risk of developing breast cancer in 50–85% of carriers. Their prevalence in different populations has been previously reported. However, there is scarce information regar

Externí odkaz: https://doaj.org/article/a0ffabcfb65d4cdbb5b757dcde402f13

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Frequency of Rearrangements Versus Small Indels Mutations in BRCA1 and BRCA2 Genes in Turkish Patients with High Risk Breast and Ovarian Cancer

Autor: Hülya Yazıcı, Seda Kılıç, Demet Akdeniz, Özge Şükrüoğlu, Şeref Buğra Tuncer, Mukaddes Avşar, Gözde Kuru, Betül Çelik, Seden Küçücük, Pınar Saip

Publikováno v: European Journal of Breast Health, Vol 14, Iss 2, Pp 93-99 (2018)

Objective:The current rearrangement ratio of BRCA1 and BRCA2 genes is not known in the Turkish population. Rearrangements are not routinely investigated in many Turkish laboratories. This creates problems and contradictions between clinics. Therefore

Externí odkaz: https://doaj.org/article/c3bd932314424395b6df30c37c012848

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