Cargando…
BRCA1 and BRCA2 founder mutations account for 78% of germline carriers among hereditary breast cancer families in Chile
Identifying founder mutations in BRCA1 and BRCA2 in specific populations constitute a valuable opportunity for genetic screening. Several studies from different populations have reported recurrent and/or founder mutations representing a relevant proportion of BRCA mutation carriers. In Latin America...
Autores principales: | Alvarez, Carolina, Tapia, Teresa, Perez-Moreno, Elisa, Gajardo-Meneses, Patricia, Ruiz, Catalina, Rios, Mabel, Missarelli, Claudio, Silva, Mariela, Cruz, Adolfo, Matamala, Luis, Carvajal-Carmona, Luis, Camus, Mauricio, Carvallo, Pilar |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Impact Journals LLC
2017
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5650336/ https://www.ncbi.nlm.nih.gov/pubmed/29088781 http://dx.doi.org/10.18632/oncotarget.18815 |
Ejemplares similares
-
High frequency of pathogenic non-founder germline mutations in BRCA1 and BRCA2 in families with breast and ovarian cancer in a founder population
por: Maksimenko, J., et al.
Publicado: (2018) -
Tumor Testing for Somatic and Germline BRCA1/BRCA2 Variants in Ovarian Cancer Patients in the Context of Strong Founder Effects
por: Peixoto, Ana, et al.
Publicado: (2020) -
BRCA1 and BRCA2 screening of nine Chilean founder mutations through allelic-discrimination and real-time PCR in breast/ovarian cancer patients
por: Alvarez, Carolina, et al.
Publicado: (2022) -
The Features of BRCA1 and BRCA2 Germline Mutations in Hakka Ovarian Cancer Patients: BRCA1 C.536 A>T Maybe a Founder Mutation in This Population
por: Luo, Yu, et al.
Publicado: (2022) -
Mexican BRCA1 founder mutation: Shortening the gap in genetic assessment for hereditary breast and ovarian cancer patients
por: Fragoso-Ontiveros, Veronica, et al.
Publicado: (2019)