Literature DB >> 18335504

The 10-Mb paracentric inversion of chromosome arm 2p in activating MSH2 and causing hereditary nonpolyposis colorectal cancer: re-annotation and mutational mechanisms.

Jian-Min Chen.   

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Year:  2008        PMID： 18335504     DOI： 10.1002/gcc.20556

Source DB:  PubMed          Journal:  Genes Chromosomes Cancer        ISSN： 1045-2257            Impact factor:   5.006


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  8 in total

Review 1.  Complex human chromosomal and genomic rearrangements.

Authors:  Feng Zhang; Claudia M B Carvalho; James R Lupski
Journal:  Trends Genet       Date:  2009-06-25       Impact factor: 11.639

2.  Inversion of exons 1-7 of the MSH2 gene is a frequent cause of unexplained Lynch syndrome in one local population.

Authors:  Jennifer Rhees; Mildred Arnold; C Richard Boland
Journal:  Fam Cancer       Date:  2014-06       Impact factor: 2.375

3.  Identification of MSH2 inversion of exons 1-7 in clinical evaluation of families with suspected Lynch syndrome.

Authors:  Maureen E Mork; Andrea Rodriguez; Melissa W Taggart; Miguel A Rodriguez-Bigas; Patrick M Lynch; Sarah A Bannon; Y Nancy You; Eduardo Vilar
Journal:  Fam Cancer       Date:  2017-07       Impact factor: 2.375

4.  Prevalence of CNV-neutral structural genomic rearrangements in MLH1, MSH2, and PMS2 not detectable in routine NGS diagnostics.

Authors:  Monika Morak; Verena Steinke-Lange; Trisari Massdorf; Anna Benet-Pages; Melanie Locher; Andreas Laner; Katrin Kayser; Stefan Aretz; Elke Holinski-Feder
Journal:  Fam Cancer       Date:  2020-04       Impact factor: 2.375

5.  Biallelic MUTYH mutations can mimic Lynch syndrome.

Authors:  Monika Morak; Barbara Heidenreich; Gisela Keller; Heather Hampel; Andreas Laner; Albert de la Chapelle; Elke Holinski-Feder
Journal:  Eur J Hum Genet       Date:  2014-02-12       Impact factor: 4.246

Review 6.  Clinical problems of colorectal cancer and endometrial cancer cases with unknown cause of tumor mismatch repair deficiency (suspected Lynch syndrome).

Authors:  Daniel D Buchanan; Christophe Rosty; Mark Clendenning; Amanda B Spurdle; Aung Ko Win
Journal:  Appl Clin Genet       Date:  2014-10-06

Review 7.  Diagnosis of Lynch Syndrome and Strategies to Distinguish Lynch-Related Tumors from Sporadic MSI/dMMR Tumors.

Authors:  Julie Leclerc; Catherine Vermaut; Marie-Pierre Buisine
Journal:  Cancers (Basel)       Date:  2021-01-26       Impact factor: 6.639

Review 8.  Germline Structural Variations in Cancer Predisposition Genes.

Authors:  Tímea Pócza; Vince Kornél Grolmusz; János Papp; Henriett Butz; Attila Patócs; Anikó Bozsik
Journal:  Front Genet       Date:  2021-04-14       Impact factor: 4.599
  8 in total

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