Title |
Mutation analysis of the SHFM1 gene in breast/ovarian cancer families
|
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Published in |
Journal of Cancer Research and Clinical Oncology, February 2013
|
DOI | 10.1007/s00432-013-1385-5 |
Pubmed ID | |
Authors |
Sandra Bonache, Miguel de la Hoya, Sara Gutierrez-Enriquez, Anna Tenés, Miriam Masas, Judith Balmaña, Orland Diez |
Abstract |
About 5-10 % of breast cancer is due to inherited disease predisposition. Currently known susceptibility genes such as BRCA1 and BRCA2 explain less than 25 % of familial aggregation of breast cancer, which suggests the involvement of additional genetic susceptibility. The SHFM1 [split hand/foot malformation (ectrodactyly) type 1] gene plays an important role in the regulation of gene transcription and cell proliferation and may be involved in the maintenance of genomic integrity. It is a potential candidate for being involved in heritable cancer susceptibility due to its biological function. The SHFM1 protein binds in mammalian cells to the longest conserved region of the BRCA2 protein and is required for BRCA2 stability and function, making a critical contribution to the BRCA2 function in mediating homologous recombination. Therefore, variants in the SHFM1 gene could affect the BRCA2 functionality and be associated with the familial breast/ovarian carcinogenesis. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Spain | 1 | 100% |
Demographic breakdown
Type | Count | As % |
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Practitioners (doctors, other healthcare professionals) | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Netherlands | 1 | 6% |
Unknown | 17 | 94% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 5 | 28% |
Student > Doctoral Student | 4 | 22% |
Student > Ph. D. Student | 2 | 11% |
Student > Bachelor | 2 | 11% |
Student > Master | 1 | 6% |
Other | 1 | 6% |
Unknown | 3 | 17% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 5 | 28% |
Medicine and Dentistry | 5 | 28% |
Agricultural and Biological Sciences | 3 | 17% |
Physics and Astronomy | 1 | 6% |
Unknown | 4 | 22% |