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A new mutation of BRCA2 gene in an Italian healthy woman with familial breast cancer history

Content Provider	Springer Nature Link
Author	Pisanò, Maurizio Mezzolla, Valeria Galante, Maria Maddalena Aleman, Giovanni Manca, Corrado Lorusso, Vito Malvasi, Antonio Tinelli, Andrea
Copyright Year	2010
Abstract	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.
Starting Page	65
Ending Page	71
Page Count	7
File Format	PDF
ISSN	13899600
Journal	Familial Cancer
Volume Number	10
Issue Number	1
e-ISSN	15737292
Language	English
Publisher	Springer Netherlands
Publisher Date	2010-09-29
Publisher Place	Dordrecht
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Familiar breast cancer BRCA Ovarian cancer Genetic testing Germ line mutations Breast cancer Frame shift Biomedicine general Epidemiology Human Genetics Cancer Research
Content Type	Text
Resource Type	Article
Subject	Genetics Cancer Research Genetics (clinical) Oncology

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