Using Somatic Mutations from Tumors to Classify Variants in Mismatch Repair Genes

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Using Somatic Mutations from Tumors to Classify Variants in Mismatch Repair Genes

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im Juli 2018 veröffentlichter wissenschaftlicher Artikel

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wetenschappelijk artikel

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наукова стаття, опублікована в липні 2018

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Using Somatic Mutations from Tumors to Classify Variants in Mismatch Repair Genes

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Using Somatic Mutations from Tumors to Classify Variants in Mismatch Repair Genes

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Using Somatic Mutations from Tumors to Classify Variants in Mismatch Repair Genes

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Using Somatic Mutations from Tumors to Classify Variants in Mismatch Repair Genes

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Using Somatic Mutations from Tumors to Classify Variants in Mismatch Repair Genes

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Using Somatic Mutations from Tumors to Classify Variants in Mismatch Repair Genes

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P1476

Using Somatic Mutations from Tumors to Classify Variants in Mismatch Repair Genes

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Angela L Jacobson

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Brian H Shirts

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Colin C Pritchard

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Heather Hampel

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John Michael O Ranola

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Rachel Pearlman

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Sarah Upham

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Tom Walsh

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P2860

Opportunities for immunotherapy in microsatellite instable colorectal cancer

Sequenza: allele-specific copy number and mutation profiles from tumor sequencing data.

Human MutL homolog (MLH1) function in DNA mismatch repair: a prospective screen for missense mutations in the ATPase domain.

The use of loss of constitutional heterozygosity data to ascertain the location of predisposing genes in cancer families.

Tumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significance.

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

An intronic mutation in MLH1 associated with familial colon and breast cancer.

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results.

Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations.

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.

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19-29

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scholarly article

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10.1016/J.AJHG.2018.05.001

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English

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103

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Eric Q. Konnick

Mary-Claire King

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2018-06-07T00:00:00Z

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29887214

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6035155

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