caa a22 4500 445330562 CHVBK 20180317142735.0 cr unu---uuuuu 170323e20110301xx s 000 0 eng 10.1007/s10689-010-9389-7 doi (NATIONALLICENCE)springer-10.1007/s10689-010-9389-7 A new mutation of BRCA2 gene in an Italian healthy woman with familial breast cancer history [Elektronische Daten] [Maurizio Pisanò, Valeria Mezzolla, Maria Galante, Giovanni Alemanno, Corrado Manca, Vito Lorusso, Antonio Malvasi, Andrea Tinelli] Heterozygous germ line mutations in the Breast CAncer1 (BRCA1) and BRCA2 genes can lead to a high risk of breast and ovarian cancer, in addition to a significantly increased susceptibility of pancreatic, prostate and male breast cancer. The BRCA2 belongs to the tumor suppressor gene family and the protein encoded by this gene is involved in the repair of chromosomal damage, with an important role in the error-free repair of DNA double strand breaks. After complete sequencing of coding regions and splice junctions of both genes, in a family with breast cancer history, a non previously reported heterozygous mutation in BRCA2 was detected and studied in an Italian healthy female. The direct sequencing disclosed, on exon 15, an insertion (7525_7526insT). The frame shift mutation of BRCA2 causes a disruption of the translational reading frame, resulting in a stop codon 29 amino acids downstream, in the 2538 position of the BRCA2 protein. The mutated allele codifies a truncated protein, lacking the two putative nuclear localization signals (NLSs) that reside within the extreme C-terminal domain of BRCA2. Since this mutant protein not performs a translocation into the nucleus, it is fully non-functional. Springer Science+Business Media B.V., 2010 Familiar breast cancer nationallicence BRCA nationallicence Ovarian cancer nationallicence Genetic testing nationallicence Germ line mutations nationallicence Breast cancer nationallicence Frame shift nationallicence Pisanò Maurizio Molecular Biology and Experimental Oncology Lab, Oncological Hospital, Lecce, Italy aut Mezzolla Valeria Molecular Biology and Experimental Oncology Lab, Oncological Hospital, Lecce, Italy aut Galante Maria Molecular Biology and Experimental Oncology Lab, Oncological Hospital, Lecce, Italy aut Alemanno Giovanni Department of General Surgery, Vito Fazzi Hospital, Lecce, Italy aut Manca Corrado Department of General Surgery, Vito Fazzi Hospital, Lecce, Italy aut Lorusso Vito Department of Oncology, Oncological Hospital, Lecce, Italy aut Malvasi Antonio Department of Obstetrics and Gynaecology, Santa Maria Hospital, Bari, Italy aut Tinelli Andrea Division of Experimental Endoscopic Surgery, Imaging, Minimally Invasive Therapy & Technology, Department of Obstetrics and Gynaecology, Vito Fazzi Hospital, P.zza Muratore, 73100, Lecce, Italy aut Familial Cancer Springer Netherlands 10/1(2011-03-01), 65-71 1389-9600 10:1<65 2011 10 10689 https://doi.org/10.1007/s10689-010-9389-7 text/html Onlinezugriff via DOI 1 brief-communication jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10689-010-9389-7 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Pisanò Maurizio Molecular Biology and Experimental Oncology Lab, Oncological Hospital, Lecce, Italy aut NATIONALLICENCE 700 1- Mezzolla Valeria Molecular Biology and Experimental Oncology Lab, Oncological Hospital, Lecce, Italy aut NATIONALLICENCE 700 1- Galante Maria Molecular Biology and Experimental Oncology Lab, Oncological Hospital, Lecce, Italy aut NATIONALLICENCE 700 1- Alemanno Giovanni Department of General Surgery, Vito Fazzi Hospital, Lecce, Italy aut NATIONALLICENCE 700 1- Manca Corrado Department of General Surgery, Vito Fazzi Hospital, Lecce, Italy aut NATIONALLICENCE 700 1- Lorusso Vito Department of Oncology, Oncological Hospital, Lecce, Italy aut NATIONALLICENCE 700 1- Malvasi Antonio Department of Obstetrics and Gynaecology, Santa Maria Hospital, Bari, Italy aut NATIONALLICENCE 700 1- Tinelli Andrea Division of Experimental Endoscopic Surgery, Imaging, Minimally Invasive Therapy & Technology, Department of Obstetrics and Gynaecology, Vito Fazzi Hospital, P.zza Muratore, 73100, Lecce, Italy aut NATIONALLICENCE 773 0- Familial Cancer Springer Netherlands 10/1(2011-03-01), 65-71 1389-9600 10:1<65 2011 10 10689 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer