The Use and Interpretation of Commercial APC Gene Testing for Familial Adenomatous Polyposis
Over the past decade, numerous germ-line mutations have been discovered that increase the risk of inherited cancers. Clinical applications of these findings include genetic testing for the diagnosis of inherited syndromes in patients with cancer and testing of persons at risk for these diseases (so-...
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| Veröffentlicht in: | The New England journal of medicine 1997-03, Vol.336 (12), p.823-827 |
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| container_title | The New England journal of medicine |
| container_volume | 336 |
| creator | Giardiello, Francis M Brensinger, Jill D Petersen, Gloria M Luce, Michael C Hylind, Linda M Bacon, Judith A Booker, Susan V Parker, Rodger D Hamilton, Stanley R |
| description | Over the past decade, numerous germ-line mutations have been discovered that increase the risk of inherited cancers. Clinical applications of these findings include genetic testing for the diagnosis of inherited syndromes in patients with cancer and testing of persons at risk for these diseases (so-called presymptomatic testing). The promises and pitfalls of gene testing have received considerable attention,
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leading several professional and consumer organizations to advocate care in the use of gene tests for evaluating the risk of cancer.
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Gene testing for familial adenomatous polyposis is a clinically useful tool in the approach to families with this syndrome. . . . |
| doi_str_mv | 10.1056/NEJM199703203361202 |
| format | Article |
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1
–
6
leading several professional and consumer organizations to advocate care in the use of gene tests for evaluating the risk of cancer.
7
–
11
Gene testing for familial adenomatous polyposis is a clinically useful tool in the approach to families with this syndrome. . . .</description><identifier>ISSN: 0028-4793</identifier><identifier>EISSN: 1533-4406</identifier><identifier>DOI: 10.1056/NEJM199703203361202</identifier><identifier>PMID: 9062090</identifier><identifier>CODEN: NEJMAG</identifier><language>eng</language><publisher>Boston, MA: Massachusetts Medical Society</publisher><subject>Adenomatous Polyposis Coli - diagnosis ; Adenomatous Polyposis Coli - genetics ; Adolescent ; Adult ; Aged ; Aged, 80 and over ; Bioethics ; Biological and medical sciences ; Child ; Child, Preschool ; Colorectal cancer ; Consumer organizations ; Diagnostic Errors ; Disease ; False Negative Reactions ; Female ; Gastroenterology. Liver. Pancreas. Abdomen ; Genes, APC ; Genetic Counseling ; Genetic Diseases, Inborn ; Genetic Testing - utilization ; Genetics ; Humans ; Infant ; Informed Consent ; Male ; Medical sciences ; Middle Aged ; Mutation ; Risk Factors ; Stomach. Duodenum. Small intestine. Colon. Rectum. Anus ; Tumors ; Vegetables</subject><ispartof>The New England journal of medicine, 1997-03, Vol.336 (12), p.823-827</ispartof><rights>Copyright © 1997 Massachusetts Medical Society. All rights reserved.</rights><rights>1997 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c607t-b63d1cc4b6b79869afa69dbb3b3efddad7c5d273beb2f8becf12ed4f40cae48c3</citedby><cites>FETCH-LOGICAL-c607t-b63d1cc4b6b79869afa69dbb3b3efddad7c5d273beb2f8becf12ed4f40cae48c3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.nejm.org/doi/pdf/10.1056/NEJM199703203361202$$EPDF$$P50$$Gmms$$H</linktopdf><linktohtml>$$Uhttps://www.nejm.org/doi/full/10.1056/NEJM199703203361202$$EHTML$$P50$$Gmms$$H</linktohtml><link.rule.ids>314,776,780,2746,2747,26080,27901,27902,52357,54039</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=2610200$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9062090$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Giardiello, Francis M</creatorcontrib><creatorcontrib>Brensinger, Jill D</creatorcontrib><creatorcontrib>Petersen, Gloria M</creatorcontrib><creatorcontrib>Luce, Michael C</creatorcontrib><creatorcontrib>Hylind, Linda M</creatorcontrib><creatorcontrib>Bacon, Judith A</creatorcontrib><creatorcontrib>Booker, Susan V</creatorcontrib><creatorcontrib>Parker, Rodger D</creatorcontrib><creatorcontrib>Hamilton, Stanley R</creatorcontrib><title>The Use and Interpretation of Commercial APC Gene Testing for Familial Adenomatous Polyposis</title><title>The New England journal of medicine</title><addtitle>N Engl J Med</addtitle><description>Over the past decade, numerous germ-line mutations have been discovered that increase the risk of inherited cancers. Clinical applications of these findings include genetic testing for the diagnosis of inherited syndromes in patients with cancer and testing of persons at risk for these diseases (so-called presymptomatic testing). The promises and pitfalls of gene testing have received considerable attention,
1
–
6
leading several professional and consumer organizations to advocate care in the use of gene tests for evaluating the risk of cancer.
7
–
11
Gene testing for familial adenomatous polyposis is a clinically useful tool in the approach to families with this syndrome. . . .</description><subject>Adenomatous Polyposis Coli - diagnosis</subject><subject>Adenomatous Polyposis Coli - genetics</subject><subject>Adolescent</subject><subject>Adult</subject><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>Bioethics</subject><subject>Biological and medical sciences</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Colorectal cancer</subject><subject>Consumer organizations</subject><subject>Diagnostic Errors</subject><subject>Disease</subject><subject>False Negative Reactions</subject><subject>Female</subject><subject>Gastroenterology. Liver. Pancreas. Abdomen</subject><subject>Genes, APC</subject><subject>Genetic Counseling</subject><subject>Genetic Diseases, Inborn</subject><subject>Genetic Testing - utilization</subject><subject>Genetics</subject><subject>Humans</subject><subject>Infant</subject><subject>Informed Consent</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>Risk Factors</subject><subject>Stomach. Duodenum. Small intestine. Colon. Rectum. Anus</subject><subject>Tumors</subject><subject>Vegetables</subject><issn>0028-4793</issn><issn>1533-4406</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1997</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BEC</sourceid><sourceid>BENPR</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNqFkctqHDEQRYWJsSeOv8AERAjZhHb0GrW0NIPtOPi1GO8MjR6luIeWNJF6Fv77tDODFyHEtanFPVV1i4vQCSWnlMzlt9vzHzdU65ZwRjiXlBG2h2Z0znkjBJHv0IwQphrRan6I3te6IlNRoQ_QgSaSEU1m6HH5BPihAjbJ46s0QlkXGM3Y54RzwIscIxTXmwGf3S_wJSTAS6hjn37ikAu-MLEf_qgeUo5mzJuK7_PwvM61rx_QfjBDheNdP0IPF-fLxffm-u7yanF23ThJ2rGxknvqnLDStlpJbYKR2lvLLYfgvfGtm3vWcguWBWXBBcrAiyCIMyCU40foy3bvuuRfm8leF_vqYBhMgslQ1yolZMvkmyCdK62oohP46S9wlTclTU90jHEtKZVsgvgWciXXWiB069JHU547SrqXhLp_JDRNfdyt3tgI_nVmF8mkf97ppjozhGKS6-srxiQljLxgX7dYjLVLsIr_Pfob3Iyk5w</recordid><startdate>19970320</startdate><enddate>19970320</enddate><creator>Giardiello, Francis M</creator><creator>Brensinger, Jill D</creator><creator>Petersen, Gloria M</creator><creator>Luce, Michael C</creator><creator>Hylind, Linda M</creator><creator>Bacon, Judith A</creator><creator>Booker, Susan V</creator><creator>Parker, Rodger D</creator><creator>Hamilton, Stanley R</creator><general>Massachusetts Medical Society</general><scope>IQODW</scope><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>0TZ</scope><scope>7RV</scope><scope>7X7</scope><scope>7XB</scope><scope>8AO</scope><scope>8C1</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AN0</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BEC</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>HCIFZ</scope><scope>K0Y</scope><scope>LK8</scope><scope>M0R</scope><scope>M0T</scope><scope>M1P</scope><scope>M2M</scope><scope>M2O</scope><scope>M2P</scope><scope>M7P</scope><scope>MBDVC</scope><scope>NAPCQ</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>PSYQQ</scope><scope>Q9U</scope><scope>7TO</scope><scope>8FD</scope><scope>FR3</scope><scope>H94</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>19970320</creationdate><title>The Use and Interpretation of Commercial APC Gene Testing for Familial Adenomatous Polyposis</title><author>Giardiello, Francis M ; Brensinger, Jill D ; Petersen, Gloria M ; Luce, Michael C ; Hylind, Linda M ; Bacon, Judith A ; Booker, Susan V ; Parker, Rodger D ; Hamilton, Stanley R</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c607t-b63d1cc4b6b79869afa69dbb3b3efddad7c5d273beb2f8becf12ed4f40cae48c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1997</creationdate><topic>Adenomatous Polyposis Coli - diagnosis</topic><topic>Adenomatous Polyposis Coli - genetics</topic><topic>Adolescent</topic><topic>Adult</topic><topic>Aged</topic><topic>Aged, 80 and over</topic><topic>Bioethics</topic><topic>Biological and medical sciences</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Colorectal cancer</topic><topic>Consumer organizations</topic><topic>Diagnostic Errors</topic><topic>Disease</topic><topic>False Negative Reactions</topic><topic>Female</topic><topic>Gastroenterology. Liver. Pancreas. Abdomen</topic><topic>Genes, APC</topic><topic>Genetic Counseling</topic><topic>Genetic Diseases, Inborn</topic><topic>Genetic Testing - utilization</topic><topic>Genetics</topic><topic>Humans</topic><topic>Infant</topic><topic>Informed Consent</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Mutation</topic><topic>Risk Factors</topic><topic>Stomach. Duodenum. Small intestine. Colon. Rectum. 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Clinical applications of these findings include genetic testing for the diagnosis of inherited syndromes in patients with cancer and testing of persons at risk for these diseases (so-called presymptomatic testing). The promises and pitfalls of gene testing have received considerable attention,
1
–
6
leading several professional and consumer organizations to advocate care in the use of gene tests for evaluating the risk of cancer.
7
–
11
Gene testing for familial adenomatous polyposis is a clinically useful tool in the approach to families with this syndrome. . . .</abstract><cop>Boston, MA</cop><pub>Massachusetts Medical Society</pub><pmid>9062090</pmid><doi>10.1056/NEJM199703203361202</doi><tpages>5</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0028-4793 |
| ispartof | The New England journal of medicine, 1997-03, Vol.336 (12), p.823-827 |
| issn | 0028-4793 1533-4406 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_78846726 |
| source | MEDLINE; EZB-FREE-00999 freely available EZB journals; New England Journal of Medicine |
| subjects | Adenomatous Polyposis Coli - diagnosis Adenomatous Polyposis Coli - genetics Adolescent Adult Aged Aged, 80 and over Bioethics Biological and medical sciences Child Child, Preschool Colorectal cancer Consumer organizations Diagnostic Errors Disease False Negative Reactions Female Gastroenterology. Liver. Pancreas. Abdomen Genes, APC Genetic Counseling Genetic Diseases, Inborn Genetic Testing - utilization Genetics Humans Infant Informed Consent Male Medical sciences Middle Aged Mutation Risk Factors Stomach. Duodenum. Small intestine. Colon. Rectum. Anus Tumors Vegetables |
| title | The Use and Interpretation of Commercial APC Gene Testing for Familial Adenomatous Polyposis |
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