A state-wide population-based program for detection of lynch syndrome based upon immunohistochemical and molecular testing of colorectal tumours
We have previously established in a large retrospective study that testing for microsatellite instability (MSI) in colorectal cancer (CRC) from patients aged
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| Veröffentlicht in: | Familial cancer 2012-03, Vol.11 (1), p.1-6 |
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| creator | Schofield, Lyn Grieu, Fabienne Goldblatt, Jack Amanuel, Benhur Iacopetta, Barry |
| description | We have previously established in a large retrospective study that testing for microsatellite instability (MSI) in colorectal cancer (CRC) from patients aged |
| doi_str_mv | 10.1007/s10689-011-9494-2 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_927690846</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2605414431</sourcerecordid><originalsourceid>FETCH-LOGICAL-c370t-fc99fb3b8741b5fe84ec7d82869a47b38afae3e251a5c15a89847181e8a101c43</originalsourceid><addsrcrecordid>eNp1kU-P1SAUxYnROH_0A7gxxI0rFCgtsJxM_DPJJG50TSi9fa-TUirQmPct_Mjel46amLiC5Pzu4VwOIa8Efyc41--L4J2xjAvBrLKKySfkUrS6YVpa-RTvDaq24_yCXJXywLnkstHPyYWUQnKj1CX5eUNL9RXYj2kAuqZ1m32d0sJ6X2Cga06H7CMdU6YDVAhnjaaRzqclHGk5LUNOEehObyuKU4zbko5TqSkcIU7Bz9QvA41phoDumVYodVoOZ5uQ5pTRFZm6xbTl8oI8G_1c4OXjeU2-ffzw9fYzu__y6e725p6FRvPKxmDt2De90Ur07QhGQdCDkaazXum-MX700IBshW-DaL2xRmlhBBgvuAiquSZvd19c8fuGiVycSoB59gukrTgrdWfxjzok3_xDPmDQBcMhhIzVXCAkdijkVEqG0a15ij6fnODuXJbby3JYljuX5STOvH403voIw5-J3-0gIHegoLQcIP99-f-uvwC5QaKU</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>926909701</pqid></control><display><type>article</type><title>A state-wide population-based program for detection of lynch syndrome based upon immunohistochemical and molecular testing of colorectal tumours</title><source>MEDLINE</source><source>SpringerLink</source><creator>Schofield, Lyn ; Grieu, Fabienne ; Goldblatt, Jack ; Amanuel, Benhur ; Iacopetta, Barry</creator><creatorcontrib>Schofield, Lyn ; Grieu, Fabienne ; Goldblatt, Jack ; Amanuel, Benhur ; Iacopetta, Barry</creatorcontrib><description>We have previously established in a large retrospective study that testing for microsatellite instability (MSI) in colorectal cancer (CRC) from patients aged <60 years was an effective first screen to identify individuals with Lynch syndrome (LS). From these findings, MSI and/or immunohistochemical (IHC) screening was recommended for all newly diagnosed CRC patients aged <60 years in Western Australia, regardless of family history of cancer. In the current study we evaluated the utility of routine MSI/IHC screening by diagnostic pathology laboratories for the detection of previously undiagnosed individuals and families with LS. From January 2009 to December 2010, 270 tumours were tested for MSI and for expression of MLH1, PMS2, MSH2 and MSH6 using IHC. Cases showing MSI and/or loss of expression were also tested for the
BRAF
V600E hotspot mutation. Seventy cases were found to have MSI, of which 25 were excluded from further investigation as possible LS cases due to presence of the
BRAF
V600E mutation. The remaining 45 “red flag” cases were eligible for germline testing based on their MSI, IHC and
BRAF
status. From 31 cases tested to date, 15 germline mutations have been found. Thirteen were from individuals not previously recognized as LS and two were untested members from known LS families. Extrapolation of the mutation incidence (15/31, 48%) to all red flag cases (
n
= 45) suggests that approximately 22 mutation carriers exist in this cohort. This value approximates the number of CRC cases due to LS that could be expected to arise in the Western Australian population over a two-year period (
n
= 24), assuming that 1% of all CRCs are due to LS. Although further improvements in workflow can be made, our preliminary findings following the implementation of state-wide routine MSI and IHC testing in Western Australia indicate that the majority of LS cases are being identified.</description><identifier>ISSN: 1389-9600</identifier><identifier>EISSN: 1573-7292</identifier><identifier>DOI: 10.1007/s10689-011-9494-2</identifier><identifier>PMID: 22120844</identifier><identifier>CODEN: FCAAAJ</identifier><language>eng</language><publisher>Dordrecht: Springer Netherlands</publisher><subject>Biomedical and Life Sciences ; Biomedicine ; Cancer Research ; Colorectal Neoplasms, Hereditary Nonpolyposis - diagnosis ; Colorectal Neoplasms, Hereditary Nonpolyposis - epidemiology ; Colorectal Neoplasms, Hereditary Nonpolyposis - genetics ; DNA Mismatch Repair - genetics ; Epidemiology ; Female ; Follow-Up Studies ; Human Genetics ; Humans ; Immunoenzyme Techniques ; Male ; Microsatellite Instability ; Middle Aged ; Mutation - genetics ; Prognosis ; Proto-Oncogene Proteins B-raf - genetics ; Retrospective Studies ; Short Communication ; Western Australia - epidemiology</subject><ispartof>Familial cancer, 2012-03, Vol.11 (1), p.1-6</ispartof><rights>Springer Science+Business Media B.V. 2011</rights><rights>Springer Science+Business Media B.V. 2012</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c370t-fc99fb3b8741b5fe84ec7d82869a47b38afae3e251a5c15a89847181e8a101c43</citedby><cites>FETCH-LOGICAL-c370t-fc99fb3b8741b5fe84ec7d82869a47b38afae3e251a5c15a89847181e8a101c43</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/s10689-011-9494-2$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s10689-011-9494-2$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,776,780,27901,27902,41464,42533,51294</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/22120844$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Schofield, Lyn</creatorcontrib><creatorcontrib>Grieu, Fabienne</creatorcontrib><creatorcontrib>Goldblatt, Jack</creatorcontrib><creatorcontrib>Amanuel, Benhur</creatorcontrib><creatorcontrib>Iacopetta, Barry</creatorcontrib><title>A state-wide population-based program for detection of lynch syndrome based upon immunohistochemical and molecular testing of colorectal tumours</title><title>Familial cancer</title><addtitle>Familial Cancer</addtitle><addtitle>Fam Cancer</addtitle><description>We have previously established in a large retrospective study that testing for microsatellite instability (MSI) in colorectal cancer (CRC) from patients aged <60 years was an effective first screen to identify individuals with Lynch syndrome (LS). From these findings, MSI and/or immunohistochemical (IHC) screening was recommended for all newly diagnosed CRC patients aged <60 years in Western Australia, regardless of family history of cancer. In the current study we evaluated the utility of routine MSI/IHC screening by diagnostic pathology laboratories for the detection of previously undiagnosed individuals and families with LS. From January 2009 to December 2010, 270 tumours were tested for MSI and for expression of MLH1, PMS2, MSH2 and MSH6 using IHC. Cases showing MSI and/or loss of expression were also tested for the
BRAF
V600E hotspot mutation. Seventy cases were found to have MSI, of which 25 were excluded from further investigation as possible LS cases due to presence of the
BRAF
V600E mutation. The remaining 45 “red flag” cases were eligible for germline testing based on their MSI, IHC and
BRAF
status. From 31 cases tested to date, 15 germline mutations have been found. Thirteen were from individuals not previously recognized as LS and two were untested members from known LS families. Extrapolation of the mutation incidence (15/31, 48%) to all red flag cases (
n
= 45) suggests that approximately 22 mutation carriers exist in this cohort. This value approximates the number of CRC cases due to LS that could be expected to arise in the Western Australian population over a two-year period (
n
= 24), assuming that 1% of all CRCs are due to LS. Although further improvements in workflow can be made, our preliminary findings following the implementation of state-wide routine MSI and IHC testing in Western Australia indicate that the majority of LS cases are being identified.</description><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Cancer Research</subject><subject>Colorectal Neoplasms, Hereditary Nonpolyposis - diagnosis</subject><subject>Colorectal Neoplasms, Hereditary Nonpolyposis - epidemiology</subject><subject>Colorectal Neoplasms, Hereditary Nonpolyposis - genetics</subject><subject>DNA Mismatch Repair - genetics</subject><subject>Epidemiology</subject><subject>Female</subject><subject>Follow-Up Studies</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Immunoenzyme Techniques</subject><subject>Male</subject><subject>Microsatellite Instability</subject><subject>Middle Aged</subject><subject>Mutation - genetics</subject><subject>Prognosis</subject><subject>Proto-Oncogene Proteins B-raf - genetics</subject><subject>Retrospective Studies</subject><subject>Short Communication</subject><subject>Western Australia - epidemiology</subject><issn>1389-9600</issn><issn>1573-7292</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>8G5</sourceid><sourceid>BENPR</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNp1kU-P1SAUxYnROH_0A7gxxI0rFCgtsJxM_DPJJG50TSi9fa-TUirQmPct_Mjel46amLiC5Pzu4VwOIa8Efyc41--L4J2xjAvBrLKKySfkUrS6YVpa-RTvDaq24_yCXJXywLnkstHPyYWUQnKj1CX5eUNL9RXYj2kAuqZ1m32d0sJ6X2Cga06H7CMdU6YDVAhnjaaRzqclHGk5LUNOEehObyuKU4zbko5TqSkcIU7Bz9QvA41phoDumVYodVoOZ5uQ5pTRFZm6xbTl8oI8G_1c4OXjeU2-ffzw9fYzu__y6e725p6FRvPKxmDt2De90Ur07QhGQdCDkaazXum-MX700IBshW-DaL2xRmlhBBgvuAiquSZvd19c8fuGiVycSoB59gukrTgrdWfxjzok3_xDPmDQBcMhhIzVXCAkdijkVEqG0a15ij6fnODuXJbby3JYljuX5STOvH403voIw5-J3-0gIHegoLQcIP99-f-uvwC5QaKU</recordid><startdate>20120301</startdate><enddate>20120301</enddate><creator>Schofield, Lyn</creator><creator>Grieu, Fabienne</creator><creator>Goldblatt, Jack</creator><creator>Amanuel, Benhur</creator><creator>Iacopetta, Barry</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>PHGZM</scope><scope>PHGZT</scope><scope>PJZUB</scope><scope>PKEHL</scope><scope>PPXIY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>Q9U</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20120301</creationdate><title>A state-wide population-based program for detection of lynch syndrome based upon immunohistochemical and molecular testing of colorectal tumours</title><author>Schofield, Lyn ; Grieu, Fabienne ; Goldblatt, Jack ; Amanuel, Benhur ; Iacopetta, Barry</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c370t-fc99fb3b8741b5fe84ec7d82869a47b38afae3e251a5c15a89847181e8a101c43</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2012</creationdate><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Cancer Research</topic><topic>Colorectal Neoplasms, Hereditary Nonpolyposis - diagnosis</topic><topic>Colorectal Neoplasms, Hereditary Nonpolyposis - epidemiology</topic><topic>Colorectal Neoplasms, Hereditary Nonpolyposis - genetics</topic><topic>DNA Mismatch Repair - genetics</topic><topic>Epidemiology</topic><topic>Female</topic><topic>Follow-Up Studies</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Immunoenzyme Techniques</topic><topic>Male</topic><topic>Microsatellite Instability</topic><topic>Middle Aged</topic><topic>Mutation - genetics</topic><topic>Prognosis</topic><topic>Proto-Oncogene Proteins B-raf - genetics</topic><topic>Retrospective Studies</topic><topic>Short Communication</topic><topic>Western Australia - epidemiology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Schofield, Lyn</creatorcontrib><creatorcontrib>Grieu, Fabienne</creatorcontrib><creatorcontrib>Goldblatt, Jack</creatorcontrib><creatorcontrib>Amanuel, Benhur</creatorcontrib><creatorcontrib>Iacopetta, Barry</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)</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</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>ProQuest Consumer Health Database</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>PML(ProQuest Medical Library)</collection><collection>Research Library (ProQuest)</collection><collection>Research Library (Corporate)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>ProQuest Central (New)</collection><collection>ProQuest One Academic (New)</collection><collection>ProQuest Health & Medical Research Collection</collection><collection>ProQuest One Academic Middle East (New)</collection><collection>ProQuest One Health & Nursing</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 China</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>Schofield, Lyn</au><au>Grieu, Fabienne</au><au>Goldblatt, Jack</au><au>Amanuel, Benhur</au><au>Iacopetta, Barry</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A state-wide population-based program for detection of lynch syndrome based upon immunohistochemical and molecular testing of colorectal tumours</atitle><jtitle>Familial cancer</jtitle><stitle>Familial Cancer</stitle><addtitle>Fam Cancer</addtitle><date>2012-03-01</date><risdate>2012</risdate><volume>11</volume><issue>1</issue><spage>1</spage><epage>6</epage><pages>1-6</pages><issn>1389-9600</issn><eissn>1573-7292</eissn><coden>FCAAAJ</coden><abstract>We have previously established in a large retrospective study that testing for microsatellite instability (MSI) in colorectal cancer (CRC) from patients aged <60 years was an effective first screen to identify individuals with Lynch syndrome (LS). From these findings, MSI and/or immunohistochemical (IHC) screening was recommended for all newly diagnosed CRC patients aged <60 years in Western Australia, regardless of family history of cancer. In the current study we evaluated the utility of routine MSI/IHC screening by diagnostic pathology laboratories for the detection of previously undiagnosed individuals and families with LS. From January 2009 to December 2010, 270 tumours were tested for MSI and for expression of MLH1, PMS2, MSH2 and MSH6 using IHC. Cases showing MSI and/or loss of expression were also tested for the
BRAF
V600E hotspot mutation. Seventy cases were found to have MSI, of which 25 were excluded from further investigation as possible LS cases due to presence of the
BRAF
V600E mutation. The remaining 45 “red flag” cases were eligible for germline testing based on their MSI, IHC and
BRAF
status. From 31 cases tested to date, 15 germline mutations have been found. Thirteen were from individuals not previously recognized as LS and two were untested members from known LS families. Extrapolation of the mutation incidence (15/31, 48%) to all red flag cases (
n
= 45) suggests that approximately 22 mutation carriers exist in this cohort. This value approximates the number of CRC cases due to LS that could be expected to arise in the Western Australian population over a two-year period (
n
= 24), assuming that 1% of all CRCs are due to LS. Although further improvements in workflow can be made, our preliminary findings following the implementation of state-wide routine MSI and IHC testing in Western Australia indicate that the majority of LS cases are being identified.</abstract><cop>Dordrecht</cop><pub>Springer Netherlands</pub><pmid>22120844</pmid><doi>10.1007/s10689-011-9494-2</doi><tpages>6</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1389-9600 |
| ispartof | Familial cancer, 2012-03, Vol.11 (1), p.1-6 |
| issn | 1389-9600 1573-7292 |
| language | eng |
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| source | MEDLINE; SpringerLink |
| subjects | Biomedical and Life Sciences Biomedicine Cancer Research Colorectal Neoplasms, Hereditary Nonpolyposis - diagnosis Colorectal Neoplasms, Hereditary Nonpolyposis - epidemiology Colorectal Neoplasms, Hereditary Nonpolyposis - genetics DNA Mismatch Repair - genetics Epidemiology Female Follow-Up Studies Human Genetics Humans Immunoenzyme Techniques Male Microsatellite Instability Middle Aged Mutation - genetics Prognosis Proto-Oncogene Proteins B-raf - genetics Retrospective Studies Short Communication Western Australia - epidemiology |
| title | A state-wide population-based program for detection of lynch syndrome based upon immunohistochemical and molecular testing of colorectal tumours |
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