Literature DB >> 24924393

A simple approach for classifying new mutations as somatic or germinal in DNA samples lacking paired tissue.

Ignacio Erquiaga1, Cristina Hurtado1, Paula Aranaz1, Francisco J Novo1, José L Vizmanos1.   

Abstract

When studying mutations in DNA samples, determining whether novel sequence changes are somatic mutations or germline polymorphisms can be difficult. Here we describe a novel and very simple approach for identification of somatic mutations and loss of heterozygosity (LoH) events in DNA samples where no matched tissue sample is available. Our method makes use of heterozygous polymorphisms that are located near the putative mutation to trace both germinal alleles.

Keywords:  cancer; loss of heterozygosity; mutation detection; somatic mutation

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Year:  2014        PMID: 24924393     DOI: 10.2144/000114180

Source DB:  PubMed          Journal:  Biotechniques        ISSN: 0736-6205            Impact factor:   1.993


  1 in total

1.  p.Y317H is a new JAK2 gain-of-function mutation affecting the FERM domain in a myelofibrosis patient with CALR mutation.

Authors:  Laura Eder-Azanza; Cristina Hurtado; David Navarro-Herrera; Paula Aranaz; Francisco J Novo; José L Vizmanos
Journal:  Haematologica       Date:  2017-05-04       Impact factor: 9.941

  1 in total

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