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A novel deleterious c.2656G>T MSH2 germline mutation in a Pakistani family with a phenotypic overlap of hereditary breast and ovarian cancer and Lynch syndrome
BACKGROUND: Hereditary breast and ovarian cancer syndrome (HBOC) and Lynch syndrome (LS) account for a significant proportion of inherited gynecologic malignancies, mainly caused by pathogenic germline mutations in the BRCA1 and BRCA2 genes or in mismatch repair (MMR) genes, such as MLH1 and MSH2. W...
Autores principales: | Rashid, Muhammad U., Naeemi, Humaira, Muhammad, Noor, Loya, Asif, Yusuf, Muhammed A., Lubiński, Jan, Jakubowska, Anna, Hamann, Ute |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4942885/ https://www.ncbi.nlm.nih.gov/pubmed/27413415 http://dx.doi.org/10.1186/s13053-016-0056-3 |
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