Deborah W Neklason

Summary

Affiliation: University of Utah
Country: USA

Publications

  1. ncbi request reprint Intron 4 mutation in APC gene results in splice defect and attenuated FAP phenotype
    Deborah W Neklason
    Department of Oncological Sciences, University of Utah, Salt Lake City, USA
    Fam Cancer 3:35-40. 2004
  2. pmc Activating mutation in MET oncogene in familial colorectal cancer
    Deborah W Neklason
    Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah, USA
    BMC Cancer 11:424. 2011
  3. pmc Colorectal adenomas and cancer link to chromosome 13q22.1-13q31.3 in a large family with excess colorectal cancer
    Deborah W Neklason
    Department of Oncological Sciences, University of Utah, Salt Lake City, Utah, USA
    J Med Genet 47:692-9. 2010
  4. pmc Common familial colorectal cancer linked to chromosome 7q31: a genome-wide analysis
    Deborah W Neklason
    Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah 84112 5550, USA
    Cancer Res 68:8993-7. 2008
  5. pmc American founder mutation for attenuated familial adenomatous polyposis
    Deborah W Neklason
    Department of Oncological Sciences, University of Utah, Salt Lake City, Utah 84112 5550, USA
    Clin Gastroenterol Hepatol 6:46-52. 2008
  6. pmc Hereditary and familial colon cancer
    Kory W Jasperson
    Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah, USA
    Gastroenterology 138:2044-58. 2010
  7. ncbi request reprint Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis
    Randall W Burt
    Department of Medicine, University of Utah, Salt Lake City, USA
    Gastroenterology 127:444-51. 2004
  8. pmc Large intron 14 rearrangement in APC results in splice defect and attenuated FAP
    Therese M F Tuohy
    Huntsman Cancer Institute, University of Utah, Salt Lake City, UT, 84112 5550, USA
    Hum Genet 127:359-69. 2010
  9. ncbi request reprint Gonadal mosaicism and familial adenomatous polyposis
    Angela L Schwab
    Huntsman Cancer Institute, University of Utah, 2000 Circle of Hope, Room 3146, Salt Lake City, UT 84112 5550, USA
    Fam Cancer 7:173-7. 2008
  10. pmc Colonic adenoma risk in familial colorectal cancer--a study of six extended kindreds
    Deborah W Neklason
    Huntsman Cancer Institute, Salt Lake City, Utah 84112 5550, USA
    Am J Gastroenterol 103:2577-84. 2008

Detail Information

Publications17

  1. ncbi request reprint Intron 4 mutation in APC gene results in splice defect and attenuated FAP phenotype
    Deborah W Neklason
    Department of Oncological Sciences, University of Utah, Salt Lake City, USA
    Fam Cancer 3:35-40. 2004
    ..The lack of a secondary transcript from the mutant allele suggests that incomplete exon skipping is not the molecular mechanism behind the attenuated phenotype...
  2. pmc Activating mutation in MET oncogene in familial colorectal cancer
    Deborah W Neklason
    Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah, USA
    BMC Cancer 11:424. 2011
    ..Familial colorectal cancer has been linked to chromosome 7q31 by multiple affected relative pair studies. The MET proto-oncogene which resides in this chromosomal region is considered a candidate for genetic susceptibility...
  3. pmc Colorectal adenomas and cancer link to chromosome 13q22.1-13q31.3 in a large family with excess colorectal cancer
    Deborah W Neklason
    Department of Oncological Sciences, University of Utah, Salt Lake City, Utah, USA
    J Med Genet 47:692-9. 2010
    ..Fewer than 5% of colon cancers arise in the presence of a clear hereditary cancer condition; however, current estimates suggest that an additional 15-25% of colorectal cancers arise on the basis of unknown inherited factors...
  4. pmc Common familial colorectal cancer linked to chromosome 7q31: a genome-wide analysis
    Deborah W Neklason
    Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah 84112 5550, USA
    Cancer Res 68:8993-7. 2008
    ..9; P = 0.02). No known familial cancer genes reside in the 7q31 locus, and thus the identified region may contain a novel susceptibility gene responsible for common familial colorectal cancer...
  5. pmc American founder mutation for attenuated familial adenomatous polyposis
    Deborah W Neklason
    Department of Oncological Sciences, University of Utah, Salt Lake City, Utah 84112 5550, USA
    Clin Gastroenterol Hepatol 6:46-52. 2008
    ....
  6. pmc Hereditary and familial colon cancer
    Kory W Jasperson
    Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah, USA
    Gastroenterology 138:2044-58. 2010
    ..This review examines the colon cancer syndromes, their genetics and management, and also the common familial colon cancers with current genetic advances and screening guidelines...
  7. ncbi request reprint Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis
    Randall W Burt
    Department of Medicine, University of Utah, Salt Lake City, USA
    Gastroenterology 127:444-51. 2004
    ..An attenuated form of familial adenomatous polyposis has been described, but the phenotype remains poorly understood...
  8. pmc Large intron 14 rearrangement in APC results in splice defect and attenuated FAP
    Therese M F Tuohy
    Huntsman Cancer Institute, University of Utah, Salt Lake City, UT, 84112 5550, USA
    Hum Genet 127:359-69. 2010
    ..This and similar types of intronic mutations may account for a significant proportion of FAP cases where APC clinical analysis fails because of the current limitations of testing options...
  9. ncbi request reprint Gonadal mosaicism and familial adenomatous polyposis
    Angela L Schwab
    Huntsman Cancer Institute, University of Utah, 2000 Circle of Hope, Room 3146, Salt Lake City, UT 84112 5550, USA
    Fam Cancer 7:173-7. 2008
    ..Parents who test negative for the mutation should be counseled about the possibility of having another affected child due to gonadal mosaicism...
  10. pmc Colonic adenoma risk in familial colorectal cancer--a study of six extended kindreds
    Deborah W Neklason
    Huntsman Cancer Institute, Salt Lake City, Utah 84112 5550, USA
    Am J Gastroenterol 103:2577-84. 2008
    ..This issue is clinically relevant since several medical societies currently recommend earlier and more rigorous colorectal screening for individuals with a strong family history of CRC...
  11. ncbi request reprint Frequency of familial colon cancer and hereditary nonpolyposis colorectal cancer (Lynch syndrome) in a large population database
    Richard A Kerber
    Department of Oncological Sciences, University of Utah, School of Medicine, USA
    Fam Cancer 4:239-44. 2005
    ....
  12. pmc Shared genomic segment analysis: the power to find rare disease variants
    Stacey Knight
    Division of Genetic Epidemiology, University of Utah School of Medicine, Salt Lake City, UT 84108, USA
    Ann Hum Genet 76:500-9. 2012
    ..96 Mb region containing the known causal APC gene with genome-wide significance. SGS is a powerful method for detecting rare variants and a valuable complement to genome-wide association studies and linkage analysis...
  13. pmc Maximum-likelihood estimation of recent shared ancestry (ERSA)
    Chad D Huff
    Department of Human Genetics, University of Utah Health Sciences Center, Salt Lake City, Utah 84112, USA
    Genome Res 21:768-74. 2011
    ..ERSA greatly expands the range of relationships that can be estimated from genetic data and is implemented in a freely available software package...
  14. ncbi request reprint Disease-associated casein kinase I delta mutation may promote adenomatous polyps formation via a Wnt/beta-catenin independent mechanism
    I Chun Tsai
    Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah, Salt Lake City, UT 84112, USA
    Int J Cancer 120:1005-12. 2007
    ..This novel human CKIdelta mutation may alter the physiological role and enhance the transforming ability of CKIdelta through a Wnt/beta-catenin independent mechanism and thereby influence colonic adenoma development...
  15. pmc Evaluating Lynch syndrome in very early onset colorectal cancer probands without apparent polyposis
    Kory W Jasperson
    Cancer Screening and Prevention Program, City of Hope Cancer Center, Duarte, CA, USA
    Fam Cancer 9:99-107. 2010
    ..Careful attention to evolving or additional clinical features is warranted and may lead to an alternate genetic diagnosis in families with early onset CRC...
  16. doi request reprint RNA sequencing of sessile serrated colon polyps identifies differentially expressed genes and immunohistochemical markers
    Don A Delker
    Department of Medicine, University of Utah, Salt Lake City, Utah, United States of America
    PLoS ONE 9:e88367. 2014
    ..Our aim was to define the comprehensive gene expression phenotype of SSA/Ps to better define this cancer precursor...
  17. ncbi request reprint Genetic testing for inherited colon cancer
    Randall Burt
    Huntsman Cancer Institute at University of Utah, Salt Lake City, Utah 84112, USA
    Gastroenterology 128:1696-716. 2005
    ..Finally, the ongoing work to discover new and possibly more common but less penetrant colon cancer susceptibility genes that cause common familial colon cancer will be presented...