The BRCA2 c.68‐7T > A variant is not pathogenic:a model for clinical calibration of spliceogenicity

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Colombo, M. (Mara); Lopez-Perolio, I. (Irene); Meeks, H. D. (Huong D.); Caleca, L. (Laura); Parsons, M. T. (Michael T.); Li, H. (Hongyan); De Vecchi, G. (Giovanna); Tudini, E. (Emma); Foglia, C. (Claudia); Mondini, P. (Patrizia); Manoukian, S. (Siranoush); Behar, R. (Raquel); Garcia, E. B. (Encarna B. Gomez); Meindl, A. (Alfons); Montagna, M. (Marco); Niederacher, D. (Dieter); Schmidt, A. Y. (Ane Y.); Varesco, L. (Liliana); Wappenschmidt, B. (Barbara); Bolla, M. K. (Manjeet K.); Dennis, J. (Joe); Michailidou, K. (Kyriaki); Wang, Q. (Qin); Aittomäki, K. (Kristiina); Andrulis, I. L. (Irene L.); Anton-Culver, H. (Hoda); Arndt, V. (Volker); Beckmann, M. W. (Matthias W.); Beeghly-Fadel, A. (Alicia); Benitez, J. (Javier); ... view all 112 authors

textabstractAlthough the spliceogenic nature of the BRCA2 c.68-7T > A variant has been demonstrated, its association with cancer risk remains controversial. In this study, we accurately quantified by real-time PCR and digital PCR (dPCR), the BRCA2 isoforms retaining or ... View more
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