Novel nonsense mutation of BRCA2 gene in a Moroccan man with familial breast cancer
Abstract
Background: Breast cancer is the most common cancer in women worldwide. About 5 to 10% of cases are due to an inherited predisposition in two major genes, BRCA1 and BRCA2, transmitted as an autosomal dominant form. Male breast cancer is rare and is mainly due to BRCA2 than BRCA1 germline mutations.
Objective: Molecular study of BRCA2 gene in man with familial breast cancer.
Methods: PCR and direct sequencing of BRCA2 gene.
Results: Identification of novel heterozygous germline mutation c.6428C>A ; p.Ser2143Stop of BRCA2 gene.
Keywords: male, breast cancer, BRCA2 gene, mutation, genetic counseling.
While African Health Sciences has been freely accessible online there have been questions on whether it is Open Access or not. We wish to clearly state that indeed African Health Sciences is Open Access. There are key issues regarding Open Access needing clarification for avoidance of doubt:
- 1. Henceforth, papers in African Health Sciences will be published under the CC BY (Creative Commons Attribution License) 4.0 International. See details on https://creativecomons.org/)
- 2. The copyright owners or the authors grant the 3rd party (perpetually and in advance) the right to disseminate, reproduce, or use the research papers in part or in full, format/medium as long as:
- No substantive errors are introduced in the process
- Attribution of authorship and correct citation details are given
- The referencing details are not changed.
Should the papers be reproduced in part, this must be clearly stated.
- 3. The papers will be freely and universally accessible online in an easily readable format such as XML in at least one widely recognized open access repository such as PUBMED CENTRAL.
B. ABRIDGED LICENCE AGREEMENT BETWEEN AUTHORS AND African Health Sciences
I submitted my manuscript to African Health Sciences and would like to affirm that:
1.0 I am authorized by my co-authors to enter into these arrangements.
2.0 I guarantee, on behalf of self and co-authors:
- That the paper is original, and has not been published in any other peer-reviewed journal; nor is it under consideration by other journal (s). It does not infringe existing copyright or any other person’s rights
- That we are/I am the sole author(s) of the paper and with authority to enter into this agreement. My granting rights to African Health Sciences is not in breach of any other obligation
- That the paper contains nothing unlawful, or libelous. Nor anything that would constitute a breach of contract, confidence or commitment given to secrecy, if published
- That I/we have taken care to ensure the integrity of the article.
3.0 I and all co-authors, agree that the paper, if accepted for publication, shall be licensed under the Creative Commons Attribution License 4.0. (see https://creativecommons.org/)
