Working through a diagnostic challenge: colonic polyposis, Amsterdam criteria, and a mismatch repair mutation
The two most common causes of hereditary colorectal cancer are Lynch syndrome and familial adenomatous polyposis (FAP). The phenotype of Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer (HNPCC), is differentiated in part from FAP by the lack of profuse colonic polyposis. Here...
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| Veröffentlicht in: | Familial cancer 2008-12, Vol.7 (4), p.281-285 |
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| creator | Jasperson, Kory W. Blazer, Kathleen R. Lowstuter, Katrina Weitzel, Jeffrey N. |
| description | The two most common causes of hereditary colorectal cancer are Lynch syndrome and familial adenomatous polyposis (FAP). The phenotype of Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer (HNPCC), is differentiated in part from FAP by the lack of profuse colonic polyposis. Here we describe a proband who presented with greater than 50 adenomatous colonic polyps prior to developing cancer of the colon and urinary bladder, and a family history that fulfills the Amsterdam criteria. Germline analyses of
APC
and
MYH
in the proband did not reveal any mutations. Comprehensive analysis of the mismatch repair genes associated with Lynch syndrome revealed a germline
hMSH6
missense mutation 2314C>T (arg772trp) and normal sequencing for
hMSH2
and
hMLH1
. We outline evidence supporting the pathogenicity of the identified
hMSH6
mutation (arg772trp) and suggest possible etiologies for the unexplained colonic adenomatous polyposis. |
| doi_str_mv | 10.1007/s10689-007-9179-z |
| format | Article |
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APC
and
MYH
in the proband did not reveal any mutations. Comprehensive analysis of the mismatch repair genes associated with Lynch syndrome revealed a germline
hMSH6
missense mutation 2314C>T (arg772trp) and normal sequencing for
hMSH2
and
hMLH1
. We outline evidence supporting the pathogenicity of the identified
hMSH6
mutation (arg772trp) and suggest possible etiologies for the unexplained colonic adenomatous polyposis.</description><identifier>ISSN: 1389-9600</identifier><identifier>EISSN: 1573-7292</identifier><identifier>DOI: 10.1007/s10689-007-9179-z</identifier><identifier>PMID: 18176851</identifier><identifier>CODEN: FCAAAJ</identifier><language>eng</language><publisher>Dordrecht: Springer Netherlands</publisher><subject>Adenocarcinoma - diagnosis ; Adenocarcinoma - genetics ; Adenomatous Polyposis Coli - complications ; Adenomatous Polyposis Coli - genetics ; Biomedical and Life Sciences ; Biomedicine ; Cancer Research ; Carcinoma, Transitional Cell - diagnosis ; Carcinoma, Transitional Cell - genetics ; Colonic Neoplasms - genetics ; Colorectal Neoplasms, Hereditary Nonpolyposis - diagnosis ; Colorectal Neoplasms, Hereditary Nonpolyposis - genetics ; DNA-Binding Proteins ; Epidemiology ; Female ; Genes, APC ; Germ-Line Mutation ; Human Genetics ; Humans ; Middle Aged ; Neoplasms, Multiple Primary - genetics ; Pedigree ; Phenotype ; Urinary Bladder Neoplasms - genetics</subject><ispartof>Familial cancer, 2008-12, Vol.7 (4), p.281-285</ispartof><rights>Springer Science+Business Media B.V. 2008</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c400t-ea8fe3494d5cff310942d6067bf4469625b3006e7f1078a9b66ebc8867fa05dc3</citedby><cites>FETCH-LOGICAL-c400t-ea8fe3494d5cff310942d6067bf4469625b3006e7f1078a9b66ebc8867fa05dc3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s10689-007-9179-z$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s10689-007-9179-z$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,780,784,27923,27924,41487,42556,51318</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/18176851$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Jasperson, Kory W.</creatorcontrib><creatorcontrib>Blazer, Kathleen R.</creatorcontrib><creatorcontrib>Lowstuter, Katrina</creatorcontrib><creatorcontrib>Weitzel, Jeffrey N.</creatorcontrib><title>Working through a diagnostic challenge: colonic polyposis, Amsterdam criteria, and a mismatch repair mutation</title><title>Familial cancer</title><addtitle>Familial Cancer</addtitle><addtitle>Fam Cancer</addtitle><description>The two most common causes of hereditary colorectal cancer are Lynch syndrome and familial adenomatous polyposis (FAP). The phenotype of Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer (HNPCC), is differentiated in part from FAP by the lack of profuse colonic polyposis. Here we describe a proband who presented with greater than 50 adenomatous colonic polyps prior to developing cancer of the colon and urinary bladder, and a family history that fulfills the Amsterdam criteria. Germline analyses of
APC
and
MYH
in the proband did not reveal any mutations. Comprehensive analysis of the mismatch repair genes associated with Lynch syndrome revealed a germline
hMSH6
missense mutation 2314C>T (arg772trp) and normal sequencing for
hMSH2
and
hMLH1
. We outline evidence supporting the pathogenicity of the identified
hMSH6
mutation (arg772trp) and suggest possible etiologies for the unexplained colonic adenomatous polyposis.</description><subject>Adenocarcinoma - diagnosis</subject><subject>Adenocarcinoma - genetics</subject><subject>Adenomatous Polyposis Coli - complications</subject><subject>Adenomatous Polyposis Coli - genetics</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Cancer Research</subject><subject>Carcinoma, Transitional Cell - diagnosis</subject><subject>Carcinoma, Transitional Cell - genetics</subject><subject>Colonic Neoplasms - genetics</subject><subject>Colorectal Neoplasms, Hereditary Nonpolyposis - diagnosis</subject><subject>Colorectal Neoplasms, Hereditary Nonpolyposis - genetics</subject><subject>DNA-Binding Proteins</subject><subject>Epidemiology</subject><subject>Female</subject><subject>Genes, APC</subject><subject>Germ-Line Mutation</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Middle Aged</subject><subject>Neoplasms, Multiple Primary - genetics</subject><subject>Pedigree</subject><subject>Phenotype</subject><subject>Urinary Bladder Neoplasms - genetics</subject><issn>1389-9600</issn><issn>1573-7292</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2008</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>8G5</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNqFkUtLxDAUhYMovn-AGwkuXFm9SdqkcSfiCwbcKC5DmqYz0bapSbsYf70ZZkAQxFUOud89yb0HoRMClwRAXEUCvJRZkpkkQmZfW2ifFIJlgkq6nTRLVckB9tBBjO8AFCgTu2iPlETwsiD7qHvz4cP1czwugp_mC6xx7fS893F0BpuFblvbz-01Nr71fboafLscfHTxAt90cbSh1h02wSXl9AXWfZ0sOhc7PZoFDnbQLuBuGvXofH-EdhrdRnu8OQ_R6_3dy-1jNnt-eLq9mWUmBxgzq8vGslzmdWGahhGQOa05cFE1ec4lp0XFALgVDQFRallxbitTllw0GorasEN0vvYdgv-cbBxV-pGxbat766eouBSMSUb-BYksuMgFT-DZL_DdT6FPQyhKirRXWtAEkTVkgo8x2EYNwXU6LBUBtUpMrRNTK7lKTH2lntON8VR1tv7p2ESUALoGYiqlKMLPy3-7fgPcX6I7</recordid><startdate>20081201</startdate><enddate>20081201</enddate><creator>Jasperson, Kory W.</creator><creator>Blazer, Kathleen R.</creator><creator>Lowstuter, Katrina</creator><creator>Weitzel, Jeffrey N.</creator><general>Springer Netherlands</general><general>Springer Nature B.V</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8FD</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>8G5</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>K9-</scope><scope>K9.</scope><scope>M0R</scope><scope>M0S</scope><scope>M1P</scope><scope>M2O</scope><scope>MBDVC</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>Q9U</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20081201</creationdate><title>Working through a diagnostic challenge: colonic polyposis, Amsterdam criteria, and a mismatch repair mutation</title><author>Jasperson, Kory W. ; Blazer, Kathleen R. ; Lowstuter, Katrina ; Weitzel, Jeffrey N.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c400t-ea8fe3494d5cff310942d6067bf4469625b3006e7f1078a9b66ebc8867fa05dc3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2008</creationdate><topic>Adenocarcinoma - diagnosis</topic><topic>Adenocarcinoma - genetics</topic><topic>Adenomatous Polyposis Coli - complications</topic><topic>Adenomatous Polyposis Coli - genetics</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Cancer Research</topic><topic>Carcinoma, Transitional Cell - diagnosis</topic><topic>Carcinoma, Transitional Cell - genetics</topic><topic>Colonic Neoplasms - genetics</topic><topic>Colorectal Neoplasms, Hereditary Nonpolyposis - diagnosis</topic><topic>Colorectal Neoplasms, Hereditary Nonpolyposis - genetics</topic><topic>DNA-Binding Proteins</topic><topic>Epidemiology</topic><topic>Female</topic><topic>Genes, APC</topic><topic>Germ-Line Mutation</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Middle Aged</topic><topic>Neoplasms, Multiple Primary - genetics</topic><topic>Pedigree</topic><topic>Phenotype</topic><topic>Urinary Bladder Neoplasms - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Jasperson, Kory W.</creatorcontrib><creatorcontrib>Blazer, Kathleen R.</creatorcontrib><creatorcontrib>Lowstuter, Katrina</creatorcontrib><creatorcontrib>Weitzel, Jeffrey N.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Technology Research Database</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>Research Library (Alumni Edition)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>Research Library Prep</collection><collection>Consumer Health Database (Alumni Edition)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Consumer Health Database</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Research Library</collection><collection>Research Library (Corporate)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central Basic</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Familial cancer</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Jasperson, Kory W.</au><au>Blazer, Kathleen R.</au><au>Lowstuter, Katrina</au><au>Weitzel, Jeffrey N.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Working through a diagnostic challenge: colonic polyposis, Amsterdam criteria, and a mismatch repair mutation</atitle><jtitle>Familial cancer</jtitle><stitle>Familial Cancer</stitle><addtitle>Fam Cancer</addtitle><date>2008-12-01</date><risdate>2008</risdate><volume>7</volume><issue>4</issue><spage>281</spage><epage>285</epage><pages>281-285</pages><issn>1389-9600</issn><eissn>1573-7292</eissn><coden>FCAAAJ</coden><abstract>The two most common causes of hereditary colorectal cancer are Lynch syndrome and familial adenomatous polyposis (FAP). The phenotype of Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer (HNPCC), is differentiated in part from FAP by the lack of profuse colonic polyposis. Here we describe a proband who presented with greater than 50 adenomatous colonic polyps prior to developing cancer of the colon and urinary bladder, and a family history that fulfills the Amsterdam criteria. Germline analyses of
APC
and
MYH
in the proband did not reveal any mutations. Comprehensive analysis of the mismatch repair genes associated with Lynch syndrome revealed a germline
hMSH6
missense mutation 2314C>T (arg772trp) and normal sequencing for
hMSH2
and
hMLH1
. We outline evidence supporting the pathogenicity of the identified
hMSH6
mutation (arg772trp) and suggest possible etiologies for the unexplained colonic adenomatous polyposis.</abstract><cop>Dordrecht</cop><pub>Springer Netherlands</pub><pmid>18176851</pmid><doi>10.1007/s10689-007-9179-z</doi><tpages>5</tpages></addata></record> |
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| ispartof | Familial cancer, 2008-12, Vol.7 (4), p.281-285 |
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| subjects | Adenocarcinoma - diagnosis Adenocarcinoma - genetics Adenomatous Polyposis Coli - complications Adenomatous Polyposis Coli - genetics Biomedical and Life Sciences Biomedicine Cancer Research Carcinoma, Transitional Cell - diagnosis Carcinoma, Transitional Cell - genetics Colonic Neoplasms - genetics Colorectal Neoplasms, Hereditary Nonpolyposis - diagnosis Colorectal Neoplasms, Hereditary Nonpolyposis - genetics DNA-Binding Proteins Epidemiology Female Genes, APC Germ-Line Mutation Human Genetics Humans Middle Aged Neoplasms, Multiple Primary - genetics Pedigree Phenotype Urinary Bladder Neoplasms - genetics |
| title | Working through a diagnostic challenge: colonic polyposis, Amsterdam criteria, and a mismatch repair mutation |
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