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Title: Germline pathogenic variants in BRCA1, BRCA2, PALB2 and RAD51C in breast cancer women from Argentina
Authors: Cerretini, Roxana 
Mercado, Graciela 
Morganstein, Josh 
Schiaffi, Jorge 
Reynoso, Mónica 
Montoya, Diana 
Valdez, Rita 
Narod, Steven A 
Akbari, Mohammad R 
Keywords: Argentina;Neoplasias de la Mama;Mutación del fundador;Genética;Hereditario;PALB2
Issue Date: Dec-2019
Journal: Breast cancer research and treatment 
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.
DOI: 10.1007/s10549-019-05411-9
Appears in Collections:Publicaciones CeNaGeM

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