Colorectal Cancer Linkage on Chromosomes 4q21, 8q13, 12q24, and 15q22
Publication Date
May 31, 2012
Journal
PLOS ONE
Authors
Mine S. Cicek, Julie M. Cunningham, Brooke L. Fridley, Daniel J. Serie, et al
Volume
7
Issue
5
Pages
e38175
DOI
https://dx.plos.org/10.1371/journal.pone.0038175
Publisher URL
http://journals.plos.org/plosone/article?id=10.1371%2Fjournal.pone.0038175
PubMed
http://www.ncbi.nlm.nih.gov/pubmed/22675446
PubMed Central
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3364975
Europe PMC
http://europepmc.org/abstract/MED/22675446
Web of Science
000305338500103
Scopus
84861655606
Mendeley
http://www.mendeley.com/research/colorectal-cancer-linkage-chromosomes-4q21-8q13-12q24-15q22
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Mendeley | Further Information

{"title"=>"Colorectal cancer linkage on chromosomes 4q21, 8q13, 12q24, and 15q22", "type"=>"journal", "authors"=>[{"first_name"=>"Mine S.", "last_name"=>"Cicek", "scopus_author_id"=>"7004621950"}, {"first_name"=>"Julie M.", "last_name"=>"Cunningham", "scopus_author_id"=>"7402342190"}, {"first_name"=>"Brooke L.", "last_name"=>"Fridley", "scopus_author_id"=>"16039265400"}, {"first_name"=>"Daniel J.", "last_name"=>"Serie", "scopus_author_id"=>"57197834076"}, {"first_name"=>"William R.", "last_name"=>"Bamlet", "scopus_author_id"=>"6507377111"}, {"first_name"=>"Brenda", "last_name"=>"Diergaarde", "scopus_author_id"=>"6602323610"}, {"first_name"=>"Robert W.", "last_name"=>"Haile", "scopus_author_id"=>"7005617814"}, {"first_name"=>"Loic", "last_name"=>"Le Marchand", "scopus_author_id"=>"7006229986"}, {"first_name"=>"Theodore G.", "last_name"=>"Krontiris", "scopus_author_id"=>"7007152814"}, {"first_name"=>"H. Banfield", "last_name"=>"Younghusband", "scopus_author_id"=>"6701630423"}, {"first_name"=>"Steven", "last_name"=>"Gallinger", "scopus_author_id"=>"34975072000"}, {"first_name"=>"Polly A.", "last_name"=>"Newcomb", "scopus_author_id"=>"7005002750"}, {"first_name"=>"John L.", "last_name"=>"Hopper", "scopus_author_id"=>"7201924128"}, {"first_name"=>"Mark A.", "last_name"=>"Jenkins", "scopus_author_id"=>"55507588400"}, {"first_name"=>"Graham", "last_name"=>"Casey", "scopus_author_id"=>"7103102611"}, {"first_name"=>"Fredrick", "last_name"=>"Schumacher", "scopus_author_id"=>"56386979100"}, {"first_name"=>"Zhu", "last_name"=>"Chen", "scopus_author_id"=>"55235508700"}, {"first_name"=>"Melissa S.", "last_name"=>"DeRycke", "scopus_author_id"=>"55790789000"}, {"first_name"=>"Allyson S.", "last_name"=>"Templeton", "scopus_author_id"=>"7201988373"}, {"first_name"=>"Ingrid", "last_name"=>"Winship", "scopus_author_id"=>"7003439648"}, {"first_name"=>"Roger C.", "last_name"=>"Green", "scopus_author_id"=>"7403917662"}, {"first_name"=>"Jane S.", "last_name"=>"Green", "scopus_author_id"=>"55066654100"}, {"first_name"=>"Finlay A.", "last_name"=>"Macrae", "scopus_author_id"=>"7004360576"}, {"first_name"=>"Susan", "last_name"=>"Parry", "scopus_author_id"=>"7101887459"}, {"first_name"=>"Graeme P.", "last_name"=>"Young", "scopus_author_id"=>"7402900227"}, {"first_name"=>"Joanne P.", "last_name"=>"Young", "scopus_author_id"=>"7408526219"}, {"first_name"=>"Daniel", "last_name"=>"Buchanan", "scopus_author_id"=>"7203007859"}, {"first_name"=>"Duncan C.", "last_name"=>"Thomas", "scopus_author_id"=>"55568520781"}, {"first_name"=>"D. Timothy", "last_name"=>"Bishop", "scopus_author_id"=>"35354474200"}, {"first_name"=>"Noralane M.", "last_name"=>"Lindor", "scopus_author_id"=>"7006650995"}, {"first_name"=>"Stephen N.", "last_name"=>"Thibodeau", "scopus_author_id"=>"34573421500"}, {"first_name"=>"John D.", "last_name"=>"Potter", "scopus_author_id"=>"35380121900"}, {"first_name"=>"Ellen L.", "last_name"=>"Goode", "scopus_author_id"=>"7004452379"}], "year"=>2012, "source"=>"PLoS ONE", "identifiers"=>{"pmid"=>"22675446", "doi"=>"10.1371/journal.pone.0038175", "sgr"=>"84861655606", "scopus"=>"2-s2.0-84861655606", "issn"=>"19326203", "pui"=>"364923409"}, "id"=>"438abef8-8417-3976-9c56-e95c33ac2143", "abstract"=>"A substantial proportion of familial colorectal cancer (CRC) is not a consequence of known susceptibility loci, such as mismatch repair (MMR) genes, supporting the existence of additional loci. To identify novel CRC loci, we conducted a genome-wide linkage scan in 356 white families with no evidence of defective MMR (i.e., no loss of tumor expression of MMR proteins, no microsatellite instability (MSI)-high tumors, or no evidence of linkage to MMR genes). Families were ascertained via the Colon Cancer Family Registry multi-site NCI-supported consortium (Colon CFR), the City of Hope Comprehensive Cancer Center, and Memorial University of Newfoundland. A total of 1,612 individuals (average 5.0 per family including 2.2 affected) were genotyped using genome-wide single nucleotide polymorphism linkage arrays; parametric and non-parametric linkage analysis used MERLIN in a priori-defined family groups. Five lod scores greater than 3.0 were observed assuming heterogeneity. The greatest were among families with mean age of diagnosis less than 50 years at 4q21.1 (dominant HLOD = 4.51, α = 0.84, 145.40 cM, rs10518142) and among all families at 12q24.32 (dominant HLOD = 3.60, α = 0.48, 285.15 cM, rs952093). Among families with four or more affected individuals and among clinic-based families, a common peak was observed at 15q22.31 (101.40 cM, rs1477798; dominant HLOD = 3.07, α = 0.29; dominant HLOD = 3.03, α = 0.32, respectively). Analysis of families with only two affected individuals yielded a peak at 8q13.2 (recessive HLOD = 3.02, α = 0.51, 132.52 cM, rs1319036). These previously unreported linkage peaks demonstrate the continued utility of family-based data in complex traits and suggest that new CRC risk alleles remain to be elucidated.", "link"=>"http://www.mendeley.com/research/colorectal-cancer-linkage-chromosomes-4q21-8q13-12q24-15q22", "reader_count"=>24, "reader_count_by_academic_status"=>{"Unspecified"=>3, "Professor > Associate Professor"=>1, "Librarian"=>2, "Student > Doctoral Student"=>1, "Researcher"=>5, "Student > Ph. D. Student"=>4, "Student > Master"=>3, "Other"=>2, "Student > Bachelor"=>1, "Professor"=>2}, "reader_count_by_user_role"=>{"Unspecified"=>3, "Professor > Associate Professor"=>1, "Librarian"=>2, "Student > Doctoral Student"=>1, "Researcher"=>5, "Student > Ph. D. Student"=>4, "Student > Master"=>3, "Other"=>2, "Student > Bachelor"=>1, "Professor"=>2}, "reader_count_by_subject_area"=>{"Unspecified"=>4, "Engineering"=>1, "Biochemistry, Genetics and Molecular Biology"=>5, "Agricultural and Biological Sciences"=>5, "Medicine and Dentistry"=>4, "Arts and Humanities"=>1, "Psychology"=>1, "Social Sciences"=>2, "Computer Science"=>1}, "reader_count_by_subdiscipline"=>{"Engineering"=>{"Engineering"=>1}, "Medicine and Dentistry"=>{"Medicine and Dentistry"=>4}, "Social Sciences"=>{"Social Sciences"=>2}, "Psychology"=>{"Psychology"=>1}, "Agricultural and Biological Sciences"=>{"Agricultural and Biological Sciences"=>5}, "Computer Science"=>{"Computer Science"=>1}, "Biochemistry, Genetics and Molecular Biology"=>{"Biochemistry, Genetics and Molecular Biology"=>5}, "Unspecified"=>{"Unspecified"=>4}, "Arts and Humanities"=>{"Arts and Humanities"=>1}}, "reader_count_by_country"=>{"United States"=>2, "United Kingdom"=>1}, "group_count"=>1}

Scopus | Further Information

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  • {"files"=>["https://ndownloader.figshare.com/files/328154", "https://ndownloader.figshare.com/files/328197", "https://ndownloader.figshare.com/files/328240", "https://ndownloader.figshare.com/files/328288", "https://ndownloader.figshare.com/files/328324", "https://ndownloader.figshare.com/files/328371"], "description"=>"<div><p>A substantial proportion of familial colorectal cancer (CRC) is not a consequence of known susceptibility loci, such as mismatch repair (MMR) genes, supporting the existence of additional loci. To identify novel CRC loci, we conducted a genome-wide linkage scan in 356 white families with no evidence of defective MMR (i.e., no loss of tumor expression of MMR proteins, no microsatellite instability (MSI)-high tumors, or no evidence of linkage to MMR genes). Families were ascertained via the Colon Cancer Family Registry multi-site NCI-supported consortium (Colon CFR), the City of Hope Comprehensive Cancer Center, and Memorial University of Newfoundland. A total of 1,612 individuals (average 5.0 per family including 2.2 affected) were genotyped using genome-wide single nucleotide polymorphism linkage arrays; parametric and non-parametric linkage analysis used MERLIN in <em>a priori</em>-defined family groups. Five lod scores greater than 3.0 were observed assuming heterogeneity. The greatest were among families with mean age of diagnosis less than 50 years at 4q21.1 (dominant HLOD = 4.51, α = 0.84, 145.40 cM, rs10518142) and among all families at 12q24.32 (dominant HLOD = 3.60, α = 0.48, 285.15 cM, rs952093). Among families with four or more affected individuals and among clinic-based families, a common peak was observed at 15q22.31 (101.40 cM, rs1477798; dominant HLOD = 3.07, α = 0.29; dominant HLOD = 3.03, α = 0.32, respectively). Analysis of families with only two affected individuals yielded a peak at 8q13.2 (recessive HLOD = 3.02, α = 0.51, 132.52 cM, rs1319036). These previously unreported linkage peaks demonstrate the continued utility of family-based data in complex traits and suggest that new CRC risk alleles remain to be elucidated.</p> </div>", "links"=>[], "tags"=>["colorectal", "cancer", "linkage", "chromosomes", "15q22"], "article_id"=>124770, "categories"=>["Cell Biology", "Chemistry", "Biotechnology", "Cancer", "Biological Sciences", "Genetics", "Evolutionary Biology"], "users"=>["Mine S. Cicek", "Julie M. Cunningham", "Brooke L. Fridley", "Daniel J. Serie", "William R. Bamlet", "Brenda Diergaarde", "Robert W. Haile", "Loic Le Marchand", "Theodore G. Krontiris", "H. Banfield Younghusband", "Steven Gallinger", "Polly A. Newcomb", "John L. Hopper", "Mark A. Jenkins", "Graham Casey", "Fredrick Schumacher", "Zhu Chen", "Melissa S. DeRycke", "Allyson S. Templeton", "Ingrid Winship", "Roger C. Green", "Jane S. Green", "Finlay A. Macrae", "Susan Parry", "Graeme P. Young", "Joanne P. Young", "Daniel Buchanan", "Duncan C. Thomas", "D. Timothy Bishop", "Noralane M. Lindor", "Stephen N. Thibodeau", "John D. Potter", "Ellen L. Goode"], "doi"=>["https://dx.doi.org/10.1371/journal.pone.0038175.s001", "https://dx.doi.org/10.1371/journal.pone.0038175.s002", "https://dx.doi.org/10.1371/journal.pone.0038175.s003", "https://dx.doi.org/10.1371/journal.pone.0038175.s004", "https://dx.doi.org/10.1371/journal.pone.0038175.s005", "https://dx.doi.org/10.1371/journal.pone.0038175.s006"], "stats"=>{"downloads"=>0, "page_views"=>12, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/Colorectal_Cancer_Linkage_on_Chromosomes_4q21_8q13_12q24_and_15q22/124770", "title"=>"Colorectal Cancer Linkage on Chromosomes 4q21, 8q13, 12q24, and 15q22", "pos_in_sequence"=>0, "defined_type"=>4, "published_date"=>"2012-05-31 01:19:30"}
  • {"files"=>["https://ndownloader.figshare.com/files/630192"], "description"=>"a<p>Ascertainment method not reported.</p>b<p>Microsatellite stability of the tumor; MSS indicates that the tumor was microsatellite stable; MSI-L indicates that the tumor had low microsatellite instability; Unknown indicates that the tumor stability status was not available.</p>c<p>Mismatch repair status of the tumor by immunohistochemical analysis; No loss indicates that the tumor showed complete presence of protein expression of all the MMR genes tested (MLH1, MSH2, MSH6, and PMS2); Unknown indicates that the tumor MMR-expression status was not available.</p>d<p>Unknown for both MSI and IHC on 67 families is due to not being tested but had a LOD<0.04 within 20 kb surrounding <i>MSH2</i>, <i>MLH1</i>, <i>MSH6</i>, <i>PMS2</i>, <i>PMS1</i>, <i>MSH3</i>, or <i>MLH3</i>.</p>", "links"=>[], "tags"=>["356", "colorectal", "cancer", "defective", "mismatch"], "article_id"=>300627, "categories"=>["Cell Biology", "Chemistry", "Biotechnology", "Cancer", "Biological Sciences", "Genetics", "Evolutionary Biology"], "users"=>["Mine S. Cicek", "Julie M. Cunningham", "Brooke L. Fridley", "Daniel J. Serie", "William R. Bamlet", "Brenda Diergaarde", "Robert W. Haile", "Loic Le Marchand", "Theodore G. Krontiris", "H. Banfield Younghusband", "Steven Gallinger", "Polly A. Newcomb", "John L. Hopper", "Mark A. Jenkins", "Graham Casey", "Fredrick Schumacher", "Zhu Chen", "Melissa S. DeRycke", "Allyson S. Templeton", "Ingrid Winship", "Roger C. Green", "Jane S. Green", "Finlay A. Macrae", "Susan Parry", "Graeme P. Young", "Joanne P. Young", "Daniel Buchanan", "Duncan C. Thomas", "D. Timothy Bishop", "Noralane M. Lindor", "Stephen N. Thibodeau", "John D. Potter", "Ellen L. Goode"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0038175.t001", "stats"=>{"downloads"=>0, "page_views"=>2, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Characteristics_of_356_White_Colorectal_Cancer_Families_with_No_Evidence_of_Defective_Mismatch_Repair_N_/300627", "title"=>"Characteristics of 356 White Colorectal Cancer Families with No Evidence of Defective Mismatch Repair, N (%).", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2012-05-31 00:10:27"}
  • {"files"=>["https://ndownloader.figshare.com/files/630098"], "description"=>"a<p>Genotyped SNP nearest to the peak of the linkage region; distances are reported based on the NCBI build 36.2 and Haldane cM.</p>b<p>SNP location and the distance in bp is given in regards to the nearest gene.</p>c<p>Ascertainment method not reported.</p>d<p>Pseudo-gene.</p>", "links"=>[], "tags"=>["colorectal", "cancer", "linkage", "observed", "hlod", "scores"], "article_id"=>300533, "categories"=>["Cell Biology", "Chemistry", "Biotechnology", "Cancer", "Biological Sciences", "Genetics", "Evolutionary Biology"], "users"=>["Mine S. Cicek", "Julie M. Cunningham", "Brooke L. Fridley", "Daniel J. Serie", "William R. Bamlet", "Brenda Diergaarde", "Robert W. Haile", "Loic Le Marchand", "Theodore G. Krontiris", "H. Banfield Younghusband", "Steven Gallinger", "Polly A. Newcomb", "John L. Hopper", "Mark A. Jenkins", "Graham Casey", "Fredrick Schumacher", "Zhu Chen", "Melissa S. DeRycke", "Allyson S. Templeton", "Ingrid Winship", "Roger C. Green", "Jane S. Green", "Finlay A. Macrae", "Susan Parry", "Graeme P. Young", "Joanne P. Young", "Daniel Buchanan", "Duncan C. Thomas", "D. Timothy Bishop", "Noralane M. Lindor", "Stephen N. Thibodeau", "John D. Potter", "Ellen L. Goode"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0038175.t003", "stats"=>{"downloads"=>0, "page_views"=>8, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Summary_of_Colorectal_Cancer_Linkage_Results_with_Maximum_Observed_HLOD_Scores_between_2_0_and_3_0_/300533", "title"=>"Summary of Colorectal Cancer Linkage Results with Maximum Observed HLOD Scores between 2.0 and 3.0.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2012-05-31 00:08:53"}
  • {"files"=>["https://ndownloader.figshare.com/files/629913"], "description"=>"<p>The overlap in the distribution of family groups.</p>", "links"=>[], "tags"=>["overlap"], "article_id"=>300360, "categories"=>["Cell Biology", "Chemistry", "Biotechnology", "Cancer", "Biological Sciences", "Genetics", "Evolutionary Biology"], "users"=>["Mine S. Cicek", "Julie M. Cunningham", "Brooke L. Fridley", "Daniel J. Serie", "William R. Bamlet", "Brenda Diergaarde", "Robert W. Haile", "Loic Le Marchand", "Theodore G. Krontiris", "H. Banfield Younghusband", "Steven Gallinger", "Polly A. Newcomb", "John L. Hopper", "Mark A. Jenkins", "Graham Casey", "Fredrick Schumacher", "Zhu Chen", "Melissa S. DeRycke", "Allyson S. Templeton", "Ingrid Winship", "Roger C. Green", "Jane S. Green", "Finlay A. Macrae", "Susan Parry", "Graeme P. Young", "Joanne P. Young", "Daniel Buchanan", "Duncan C. Thomas", "D. Timothy Bishop", "Noralane M. Lindor", "Stephen N. Thibodeau", "John D. Potter", "Ellen L. Goode"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0038175.t004", "stats"=>{"downloads"=>0, "page_views"=>9, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_The_overlap_in_the_distribution_of_family_groups_/300360", "title"=>"The overlap in the distribution of family groups.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2012-05-31 00:06:00"}
  • {"files"=>["https://ndownloader.figshare.com/files/630003"], "description"=>"a<p>Genotyped SNP nearest to the peak of the linkage region; distances are reported in bp based on the NCBI build 36.2 and Haldane cM.</p>b<p>Pseudo-gene.</p>c<p>Non-parametric Kong & Cox LOD.</p>", "links"=>[], "tags"=>["colorectal", "cancer", "linkage", "hlod"], "article_id"=>300444, "categories"=>["Cell Biology", "Chemistry", "Biotechnology", "Cancer", "Biological Sciences", "Genetics", "Evolutionary Biology"], "users"=>["Mine S. Cicek", "Julie M. Cunningham", "Brooke L. Fridley", "Daniel J. Serie", "William R. Bamlet", "Brenda Diergaarde", "Robert W. Haile", "Loic Le Marchand", "Theodore G. Krontiris", "H. Banfield Younghusband", "Steven Gallinger", "Polly A. Newcomb", "John L. Hopper", "Mark A. Jenkins", "Graham Casey", "Fredrick Schumacher", "Zhu Chen", "Melissa S. DeRycke", "Allyson S. Templeton", "Ingrid Winship", "Roger C. Green", "Jane S. Green", "Finlay A. Macrae", "Susan Parry", "Graeme P. Young", "Joanne P. Young", "Daniel Buchanan", "Duncan C. Thomas", "D. Timothy Bishop", "Noralane M. Lindor", "Stephen N. Thibodeau", "John D. Potter", "Ellen L. Goode"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0038175.t002", "stats"=>{"downloads"=>0, "page_views"=>10, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Summary_of_Colorectal_Cancer_Linkage_Results_with_HLOD_Scores_gt_3_0_/300444", "title"=>"Summary of Colorectal Cancer Linkage Results with HLOD Scores>3.0.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2012-05-31 00:07:24"}
  • {"files"=>["https://ndownloader.figshare.com/files/629765"], "description"=>"<p>HLOD scores from genome-wide linkage scan of five white pMMR family subgroups. The blue line represents HLODs under the dominant model and the red line represents the HLODs under the recessive model. Maximum observed HLODs>3.0 (in parenthesis) are labeled with the nearest SNP in four regions. (A) Family mean age at diagnosis <50 years (N = 58). (B) All families (N = 356). (C) Families with four or more affected members (N = 67). (D) Clinic-based families (N = 88). (E) Families with two affected members (N = 200).</p>", "links"=>[], "tags"=>["linkage", "scans", "pmmr", "groups", "hlod"], "article_id"=>300210, "categories"=>["Cell Biology", "Chemistry", "Biotechnology", "Cancer", "Biological Sciences", "Genetics", "Evolutionary Biology"], "users"=>["Mine S. Cicek", "Julie M. Cunningham", "Brooke L. Fridley", "Daniel J. Serie", "William R. Bamlet", "Brenda Diergaarde", "Robert W. Haile", "Loic Le Marchand", "Theodore G. Krontiris", "H. Banfield Younghusband", "Steven Gallinger", "Polly A. Newcomb", "John L. Hopper", "Mark A. Jenkins", "Graham Casey", "Fredrick Schumacher", "Zhu Chen", "Melissa S. DeRycke", "Allyson S. Templeton", "Ingrid Winship", "Roger C. Green", "Jane S. Green", "Finlay A. Macrae", "Susan Parry", "Graeme P. Young", "Joanne P. Young", "Daniel Buchanan", "Duncan C. Thomas", "D. Timothy Bishop", "Noralane M. Lindor", "Stephen N. Thibodeau", "John D. Potter", "Ellen L. Goode"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0038175.g001", "stats"=>{"downloads"=>0, "page_views"=>10, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Genome_wide_Linkage_Scans_of_White_pMMR_Family_Groups_with_HLOD_Score_gt_3_0_/300210", "title"=>"Genome-wide Linkage Scans of White pMMR Family Groups with HLOD Score>3.0.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2012-05-31 00:03:30"}

PMC Usage Stats | Further Information

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Relative Metric

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