An unusual BRCA2 allele carrying two splice site mutations

Michael R Stratton, Nazneen Rahman, The emerging landscape of breast cancer susceptibility. Nature Genetics. ,vol. 40, pp. 17- 22 ,(2008) , 10.1038/NG.2007.53

Niall G Howlett, Toshiyasu Taniguchi, Susan Olson, Barbara Cox, Quinten Waisfisz, Christine de Die-Smulders, Nicole Persky, Markus Grompe, Hans Joenje, Gerard Pals, Hideyuki Ikeda, Edward A Fox, Alan D D'Andrea, Biallelic Inactivation of BRCA2 in Fanconi Anemia Science. ,vol. 297, pp. 606- 609 ,(2002) , 10.1126/SCIENCE.1073834

M. Pensabene, I. Spagnoletti, I. Capuano, C. Condello, S. Pepe, A. Contegiacomo, G. Lombardi, G. Bevilacqua, M.A. Caligo, Two mutations of BRCA2 gene at exon and splicing site in a woman who underwent oncogenetic counseling Annals of Oncology. ,vol. 20, pp. 874- 878 ,(2009) , 10.1093/ANNONC/MDN724