Por favor, use este identificador para citar o enlazar este ítem:
http://sgc.anlis.gob.ar/handle/123456789/1362
Título : | Germline pathogenic variants in BRCA1, BRCA2, PALB2 and RAD51C in breast cancer women from Argentina | Autor : | Cerretini, Roxana Mercado, Graciela Morganstein, Josh Schiaffi, Jorge Reynoso, Mónica Montoya, Diana Valdez, Rita Narod, Steven A Akbari, Mohammad R |
Palabras clave : | Argentina;Neoplasias de la Mama;Mutación del fundador;Genética;Hereditario;PALB2 | Fecha de publicación : | dic-2019 | Journal: | Breast cancer research and treatment | Resumen : | PurposeEach year, 17,000 new breast cancer cases are diagnosed in Argentina, and 5400 women die of breast cancer. The contribution of cancer-related mutations to the incidence of breast cancer in Argentina has not yet been explored.MethodsWe sequenced the entire coding regions of BRCA1, BRCA2, PALB2 and RAD51C in 112 unselected Argentinian breast cancer patients.ResultsA pathogenic genetic variant was found in 12 of 112 (10.7%) patients; two in BRCA1 (1.8%), five in BRCA2 (4.5%), four in PALB2 (3.6%) and one in RAD51C (0.9%). Three of four (75%) PALB2 mutation carriers carried the same variant (c.1653T > A).ConclusionsA founder mutation in PALB2 accounts for up to 4% of breast cancer patients in Argentina. BRCA1, BRCA2, PALB2 and RAD51C should be included in the genetic testing panel of breast cancer patients in Argentina. |
URI : | http://sgc.anlis.gob.ar/handle/123456789/1362 | DOI: | 10.1007/s10549-019-05411-9 |
Aparece en las colecciones: | Publicaciones CeNaGeM |
Mostrar el registro Dublin Core completo del ítem
Visualizaciones de página(s)
75
comprobado en 26-abr-2024
Google ScholarTM
Consultar
Altmetric
Altmetric
Los ítems de DSpace están protegidos por copyright, con todos los derechos reservados, a menos que se indique lo contrario.