Detection of Colorectal Cancer and Advanced Adenoma by Liquid Biopsy (Decalib Study): The ddPCR Challenge
Background: In most countries, participation in colorectal cancer (CRC) screening programs with the immunological fecal occult blood test (iFOBT) is low. Mutations of RAS and BRAF occur early in colorectal carcinogenesis and “liquid biopsy” allows detection of mutated circulating tumor DNA (ctDNA)....
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description | Background: In most countries, participation in colorectal cancer (CRC) screening programs with the immunological fecal occult blood test (iFOBT) is low. Mutations of RAS and BRAF occur early in colorectal carcinogenesis and “liquid biopsy” allows detection of mutated circulating tumor DNA (ctDNA). This prospective study aims to evaluate the performance of RAS and BRAF-mutated ctDNA in detecting CRC and advanced adenomas (AA). Methods: One hundred and thirty patients who underwent colonoscopy for suspicion of colorectal lesion were included and divided into four groups: 20 CRC, 39 AA, 31 non-advanced adenoma and/or hyperplastic polyp(s) (NAA) and 40 with no lesion. Mutated ctDNA was analyzed by droplet digital PCR. Results: ctDNA was detected in 45.0% of CRC, in 2.6% of AA and none of the NAA and “no-lesion” groups. All patients with stage II to IV mutated CRC had detectable ctDNA (n = 8/8). Among the mutated AA, only one patient had detectable ctDNA (4.3%), maybe due to limited technical sensitivity or to a low rate of ctDNA or even the absence ctDNA in plasma. Specificity and sensitivity of KRAS- and BRAF-mutated ctDNA for the detection of all CRC and AA were 100% and 16.9%, respectively. Conclusions: ctDNA had high sensitivity in detection of advanced mutated CRC but was unable to sensitively detect AA. ctDNA analysis was easy to perform and readily accepted by the population but requires combination with other circulating biomarkers before replacing iFOBT. |
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Mutations of RAS and BRAF occur early in colorectal carcinogenesis and “liquid biopsy” allows detection of mutated circulating tumor DNA (ctDNA). This prospective study aims to evaluate the performance of RAS and BRAF-mutated ctDNA in detecting CRC and advanced adenomas (AA). Methods: One hundred and thirty patients who underwent colonoscopy for suspicion of colorectal lesion were included and divided into four groups: 20 CRC, 39 AA, 31 non-advanced adenoma and/or hyperplastic polyp(s) (NAA) and 40 with no lesion. Mutated ctDNA was analyzed by droplet digital PCR. Results: ctDNA was detected in 45.0% of CRC, in 2.6% of AA and none of the NAA and “no-lesion” groups. All patients with stage II to IV mutated CRC had detectable ctDNA (n = 8/8). Among the mutated AA, only one patient had detectable ctDNA (4.3%), maybe due to limited technical sensitivity or to a low rate of ctDNA or even the absence ctDNA in plasma. Specificity and sensitivity of KRAS- and BRAF-mutated ctDNA for the detection of all CRC and AA were 100% and 16.9%, respectively. Conclusions: ctDNA had high sensitivity in detection of advanced mutated CRC but was unable to sensitively detect AA. ctDNA analysis was easy to perform and readily accepted by the population but requires combination with other circulating biomarkers before replacing iFOBT.</description><identifier>ISSN: 2072-6694</identifier><identifier>EISSN: 2072-6694</identifier><identifier>DOI: 10.3390/cancers12061482</identifier><identifier>PMID: 32517177</identifier><language>eng</language><publisher>Basel: MDPI AG</publisher><subject>Adenoma ; Biopsy ; Blood tests ; Carcinogenesis ; Colonoscopy ; Colorectal cancer ; Colorectal carcinoma ; Deoxyribonucleic acid ; DNA ; Lesions ; Medical prognosis ; Medical screening ; Metastasis ; Mutation ; Patients ; Polyps ; Tumors</subject><ispartof>Cancers, 2020-06, Vol.12 (6), p.1482</ispartof><rights>2020. This work is licensed under http://creativecommons.org/licenses/by/3.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>2020 by the authors. 2020</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c464t-3be81d413758933d23ed7ffde72b825b5ab6a2898e6dfb9198b61784dc12e9c43</citedby><cites>FETCH-LOGICAL-c464t-3be81d413758933d23ed7ffde72b825b5ab6a2898e6dfb9198b61784dc12e9c43</cites><orcidid>0000-0002-0391-7143 ; 0000-0002-8065-9635</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7352444/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7352444/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,724,777,781,882,27905,27906,53772,53774</link.rule.ids></links><search><creatorcontrib>Junca, Audelaure</creatorcontrib><creatorcontrib>Tachon, Gaëlle</creatorcontrib><creatorcontrib>Evrard, Camille</creatorcontrib><creatorcontrib>Villalva, Claire</creatorcontrib><creatorcontrib>Frouin, Eric</creatorcontrib><creatorcontrib>Karayan-Tapon, Lucie</creatorcontrib><creatorcontrib>Tougeron, David</creatorcontrib><title>Detection of Colorectal Cancer and Advanced Adenoma by Liquid Biopsy (Decalib Study): The ddPCR Challenge</title><title>Cancers</title><description>Background: In most countries, participation in colorectal cancer (CRC) screening programs with the immunological fecal occult blood test (iFOBT) is low. Mutations of RAS and BRAF occur early in colorectal carcinogenesis and “liquid biopsy” allows detection of mutated circulating tumor DNA (ctDNA). This prospective study aims to evaluate the performance of RAS and BRAF-mutated ctDNA in detecting CRC and advanced adenomas (AA). Methods: One hundred and thirty patients who underwent colonoscopy for suspicion of colorectal lesion were included and divided into four groups: 20 CRC, 39 AA, 31 non-advanced adenoma and/or hyperplastic polyp(s) (NAA) and 40 with no lesion. Mutated ctDNA was analyzed by droplet digital PCR. Results: ctDNA was detected in 45.0% of CRC, in 2.6% of AA and none of the NAA and “no-lesion” groups. All patients with stage II to IV mutated CRC had detectable ctDNA (n = 8/8). Among the mutated AA, only one patient had detectable ctDNA (4.3%), maybe due to limited technical sensitivity or to a low rate of ctDNA or even the absence ctDNA in plasma. Specificity and sensitivity of KRAS- and BRAF-mutated ctDNA for the detection of all CRC and AA were 100% and 16.9%, respectively. Conclusions: ctDNA had high sensitivity in detection of advanced mutated CRC but was unable to sensitively detect AA. ctDNA analysis was easy to perform and readily accepted by the population but requires combination with other circulating biomarkers before replacing iFOBT.</description><subject>Adenoma</subject><subject>Biopsy</subject><subject>Blood tests</subject><subject>Carcinogenesis</subject><subject>Colonoscopy</subject><subject>Colorectal cancer</subject><subject>Colorectal carcinoma</subject><subject>Deoxyribonucleic acid</subject><subject>DNA</subject><subject>Lesions</subject><subject>Medical prognosis</subject><subject>Medical screening</subject><subject>Metastasis</subject><subject>Mutation</subject><subject>Patients</subject><subject>Polyps</subject><subject>Tumors</subject><issn>2072-6694</issn><issn>2072-6694</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><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>eNpdkctLJDEQxoMoq7ie9xrwoodZO4_upD0IbrsvGFBc9xzyqHYimWRMuoX577dbRVzrUvVRHz_qgdAXUn1lrK3OrI4WciG0agiXdAcd0ErQRdO0fPddvY-OSnmopmCMiEZ8QvuM1kQQIQ6Qv4IB7OBTxKnHXQopT1IH3D3DsY4OX7qnWcwFxLTW2Gzx0j-O3uFvPm3KFp9cgdXBG_xnGN329BzfrQA7d9Pd4m6lQ4B4D5_RXq9DgaPXfIj-_vh-1_1aLK9__u4ulwvLGz4smAFJHCdM1LJlzFEGTvS9A0GNpLWptWk0la2ExvWmJa00DRGSO0sotJazQ3Txwt2MZg3OQhyyDmqT_VrnrUraq_870a_UfXpSgtWU8xlw8grI6XGEMqi1LxZC0BHSWBTlhNScTrecrMcfrA9pzHFa79klueRiBp69uGxOpWTo34YhlZo_qT58kv0DM0aQQg</recordid><startdate>20200606</startdate><enddate>20200606</enddate><creator>Junca, Audelaure</creator><creator>Tachon, Gaëlle</creator><creator>Evrard, Camille</creator><creator>Villalva, Claire</creator><creator>Frouin, Eric</creator><creator>Karayan-Tapon, Lucie</creator><creator>Tougeron, David</creator><general>MDPI AG</general><general>MDPI</general><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7T5</scope><scope>7TO</scope><scope>7XB</scope><scope>8FE</scope><scope>8FH</scope><scope>8FK</scope><scope>8G5</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>H94</scope><scope>HCIFZ</scope><scope>LK8</scope><scope>M2O</scope><scope>M7P</scope><scope>MBDVC</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>Q9U</scope><scope>7X8</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0002-0391-7143</orcidid><orcidid>https://orcid.org/0000-0002-8065-9635</orcidid></search><sort><creationdate>20200606</creationdate><title>Detection of Colorectal Cancer and Advanced Adenoma by Liquid Biopsy (Decalib Study): The ddPCR Challenge</title><author>Junca, Audelaure ; Tachon, Gaëlle ; Evrard, Camille ; Villalva, Claire ; Frouin, Eric ; Karayan-Tapon, Lucie ; Tougeron, David</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c464t-3be81d413758933d23ed7ffde72b825b5ab6a2898e6dfb9198b61784dc12e9c43</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>Adenoma</topic><topic>Biopsy</topic><topic>Blood tests</topic><topic>Carcinogenesis</topic><topic>Colonoscopy</topic><topic>Colorectal cancer</topic><topic>Colorectal carcinoma</topic><topic>Deoxyribonucleic acid</topic><topic>DNA</topic><topic>Lesions</topic><topic>Medical prognosis</topic><topic>Medical screening</topic><topic>Metastasis</topic><topic>Mutation</topic><topic>Patients</topic><topic>Polyps</topic><topic>Tumors</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Junca, Audelaure</creatorcontrib><creatorcontrib>Tachon, Gaëlle</creatorcontrib><creatorcontrib>Evrard, Camille</creatorcontrib><creatorcontrib>Villalva, Claire</creatorcontrib><creatorcontrib>Frouin, Eric</creatorcontrib><creatorcontrib>Karayan-Tapon, Lucie</creatorcontrib><creatorcontrib>Tougeron, David</creatorcontrib><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Immunology Abstracts</collection><collection>Oncogenes and Growth Factors Abstracts</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</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>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>ProQuest Central Student</collection><collection>Research Library Prep</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Biological Science Collection</collection><collection>Research Library</collection><collection>Biological Science Database</collection><collection>Research Library (Corporate)</collection><collection>Publicly Available Content Database</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>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Cancers</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Junca, Audelaure</au><au>Tachon, Gaëlle</au><au>Evrard, Camille</au><au>Villalva, Claire</au><au>Frouin, Eric</au><au>Karayan-Tapon, Lucie</au><au>Tougeron, David</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Detection of Colorectal Cancer and Advanced Adenoma by Liquid Biopsy (Decalib Study): The ddPCR Challenge</atitle><jtitle>Cancers</jtitle><date>2020-06-06</date><risdate>2020</risdate><volume>12</volume><issue>6</issue><spage>1482</spage><pages>1482-</pages><issn>2072-6694</issn><eissn>2072-6694</eissn><abstract>Background: In most countries, participation in colorectal cancer (CRC) screening programs with the immunological fecal occult blood test (iFOBT) is low. Mutations of RAS and BRAF occur early in colorectal carcinogenesis and “liquid biopsy” allows detection of mutated circulating tumor DNA (ctDNA). This prospective study aims to evaluate the performance of RAS and BRAF-mutated ctDNA in detecting CRC and advanced adenomas (AA). Methods: One hundred and thirty patients who underwent colonoscopy for suspicion of colorectal lesion were included and divided into four groups: 20 CRC, 39 AA, 31 non-advanced adenoma and/or hyperplastic polyp(s) (NAA) and 40 with no lesion. Mutated ctDNA was analyzed by droplet digital PCR. Results: ctDNA was detected in 45.0% of CRC, in 2.6% of AA and none of the NAA and “no-lesion” groups. All patients with stage II to IV mutated CRC had detectable ctDNA (n = 8/8). Among the mutated AA, only one patient had detectable ctDNA (4.3%), maybe due to limited technical sensitivity or to a low rate of ctDNA or even the absence ctDNA in plasma. Specificity and sensitivity of KRAS- and BRAF-mutated ctDNA for the detection of all CRC and AA were 100% and 16.9%, respectively. Conclusions: ctDNA had high sensitivity in detection of advanced mutated CRC but was unable to sensitively detect AA. ctDNA analysis was easy to perform and readily accepted by the population but requires combination with other circulating biomarkers before replacing iFOBT.</abstract><cop>Basel</cop><pub>MDPI AG</pub><pmid>32517177</pmid><doi>10.3390/cancers12061482</doi><orcidid>https://orcid.org/0000-0002-0391-7143</orcidid><orcidid>https://orcid.org/0000-0002-8065-9635</orcidid><oa>free_for_read</oa></addata></record> |
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subjects | Adenoma Biopsy Blood tests Carcinogenesis Colonoscopy Colorectal cancer Colorectal carcinoma Deoxyribonucleic acid DNA Lesions Medical prognosis Medical screening Metastasis Mutation Patients Polyps Tumors |
title | Detection of Colorectal Cancer and Advanced Adenoma by Liquid Biopsy (Decalib Study): The ddPCR Challenge |
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