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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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| 出版年: | Fam Cancer |
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| 主要な著者: | , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2017
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| 主題: | |
| オンライン･アクセス: | 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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