Identification of MSH2 Inversion of Exons 1-7 in Clinical Evaluation of Families with Suspected Lynch Syndrome

PURPOSE: Traditional germline sequencing and deletion/duplication analysis does not detect Lynch syndrome-causing mutations in all individuals whose colorectal or endometrial tumors demonstrate mismatch repair (MMR) deficiency. Unique inversions and other rearrangements of the MMR genes have been re...

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Pubblicato in:Fam Cancer
Autori principali: Mork, Maureen E., Rodriguez, Andrea, Taggart, Melissa W., Rodriguez-Bigas, Miguel A., Lynch, Patrick M., Bannon, Sarah A., You, Y. Nancy, Vilar, Eduardo
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2017
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5479758/
https://ncbi.nlm.nih.gov/pubmed/28004223
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10689-016-9960-y
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