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...

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Veröffentlicht in:Hered Cancer Clin Pract
Hauptverfasser: Rashid, Muhammad U., Naeemi, Humaira, Muhammad, Noor, Loya, Asif, Yusuf, Muhammed A., Lubiński, Jan, Jakubowska, Anna, Hamann, Ute
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2016
Schlagworte:
Case Report
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4942885/
https://ncbi.nlm.nih.gov/pubmed/27413415
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13053-016-0056-3
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