A codon 891 exon 15 RET proto-oncogene mutation in familial medullary thyroid carcinoma: a detection strategy
A ser891ala RET proto-oncogene mutation has been previously discovered in a single kindred with familial medullary thyroid carcinoma (FMTC). An additional two probands with this mutation and with medullary thyroid carcinoma (MTC) without any other manifestations of MEN 2 have been identified. In one...
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| Veröffentlicht in: | Molecular and cellular probes 1999-02, Vol.13 (1), p.77-79 |
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| container_title | Molecular and cellular probes |
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| creator | Dang, G T Cote, G J Schultz, P N Khorana, S Decker, R A Gagel, R F |
| description | A ser891ala RET proto-oncogene mutation has been previously discovered in a single kindred with familial medullary thyroid carcinoma (FMTC). An additional two probands with this mutation and with medullary thyroid carcinoma (MTC) without any other manifestations of MEN 2 have been identified. In one of thse families, two other individuals also had the mutant sequence and FMTC. Analysis of both cases showed cosegregation of the mutation and MTC. To facilitate detection of this mutation, a primer was engineered which creates a Hha I recognition site in the presence of the mutant sequence. As a result, this codon 891 exon 15 mutation can be identified with a restriction enzyme digestion. |
| doi_str_mv | 10.1006/mcpr.1998.0220 |
| format | Article |
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An additional two probands with this mutation and with medullary thyroid carcinoma (MTC) without any other manifestations of MEN 2 have been identified. In one of thse families, two other individuals also had the mutant sequence and FMTC. Analysis of both cases showed cosegregation of the mutation and MTC. To facilitate detection of this mutation, a primer was engineered which creates a Hha I recognition site in the presence of the mutant sequence. As a result, this codon 891 exon 15 mutation can be identified with a restriction enzyme digestion.</description><identifier>ISSN: 0890-8508</identifier><identifier>DOI: 10.1006/mcpr.1998.0220</identifier><identifier>PMID: 10024437</identifier><language>eng</language><publisher>England</publisher><subject>Amino Acid Substitution ; Carcinoma, Medullary - genetics ; Codon - genetics ; Deoxyribonucleases, Type II Site-Specific ; DNA - blood ; DNA - genetics ; DNA Mutational Analysis - methods ; DNA Primers ; Drosophila Proteins ; Exons - genetics ; Female ; Genetic Testing - methods ; Humans ; Male ; Pedigree ; Point Mutation ; Polymorphism, Restriction Fragment Length ; Proto-Oncogene Proteins - genetics ; Proto-Oncogene Proteins c-ret ; Proto-Oncogenes ; Receptor Protein-Tyrosine Kinases - genetics ; Thyroid Neoplasms - genetics</subject><ispartof>Molecular and cellular probes, 1999-02, Vol.13 (1), p.77-79</ispartof><rights>Copyright 1999 Academic Press.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27903,27904</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/10024437$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Dang, G T</creatorcontrib><creatorcontrib>Cote, G J</creatorcontrib><creatorcontrib>Schultz, P N</creatorcontrib><creatorcontrib>Khorana, S</creatorcontrib><creatorcontrib>Decker, R A</creatorcontrib><creatorcontrib>Gagel, R F</creatorcontrib><title>A codon 891 exon 15 RET proto-oncogene mutation in familial medullary thyroid carcinoma: a detection strategy</title><title>Molecular and cellular probes</title><addtitle>Mol Cell Probes</addtitle><description>A ser891ala RET proto-oncogene mutation has been previously discovered in a single kindred with familial medullary thyroid carcinoma (FMTC). An additional two probands with this mutation and with medullary thyroid carcinoma (MTC) without any other manifestations of MEN 2 have been identified. In one of thse families, two other individuals also had the mutant sequence and FMTC. Analysis of both cases showed cosegregation of the mutation and MTC. To facilitate detection of this mutation, a primer was engineered which creates a Hha I recognition site in the presence of the mutant sequence. As a result, this codon 891 exon 15 mutation can be identified with a restriction enzyme digestion.</description><subject>Amino Acid Substitution</subject><subject>Carcinoma, Medullary - genetics</subject><subject>Codon - genetics</subject><subject>Deoxyribonucleases, Type II Site-Specific</subject><subject>DNA - blood</subject><subject>DNA - genetics</subject><subject>DNA Mutational Analysis - methods</subject><subject>DNA Primers</subject><subject>Drosophila Proteins</subject><subject>Exons - genetics</subject><subject>Female</subject><subject>Genetic Testing - methods</subject><subject>Humans</subject><subject>Male</subject><subject>Pedigree</subject><subject>Point Mutation</subject><subject>Polymorphism, Restriction Fragment Length</subject><subject>Proto-Oncogene Proteins - genetics</subject><subject>Proto-Oncogene Proteins c-ret</subject><subject>Proto-Oncogenes</subject><subject>Receptor Protein-Tyrosine Kinases - genetics</subject><subject>Thyroid Neoplasms - genetics</subject><issn>0890-8508</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1999</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNo1kD1PwzAQhj2AaCmsjMgTW8rZjmubrarKh1QJCZU5cmynGMVxSByJ_nssKNOddM-d7nkRuiGwJACr-2D6YUmUkkugFM7QHKSCQnKQM3Q5jp8AoEqQF2iWcVqWTMxRWGMTbeywVAS779wQjt-2e9wPMcUidiYeXOdwmJJOPo99hxsdfOt1i4OzU9vq4YjTx3GI3mKjB-O7GPQD1ti65Mzv0pgGndzheIXOG92O7vpUF-j9cbvfPBe716eXzXpX9BREKmrCWc0Ea6yjTpa8doLzxpZlrRQFqsSKMmYIEFqSmlgmrODECitV3Riwki3Q3d_dbPE1uTFVwY_G5V87F6exWikuiaIkg7cncKqzTdUPPmSf6j8g9gNa82W4</recordid><startdate>19990201</startdate><enddate>19990201</enddate><creator>Dang, G T</creator><creator>Cote, G J</creator><creator>Schultz, P N</creator><creator>Khorana, S</creator><creator>Decker, R A</creator><creator>Gagel, R F</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope></search><sort><creationdate>19990201</creationdate><title>A codon 891 exon 15 RET proto-oncogene mutation in familial medullary thyroid carcinoma: a detection strategy</title><author>Dang, G T ; Cote, G J ; Schultz, P N ; Khorana, S ; Decker, R A ; Gagel, R F</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p207t-b153b373fde2e845be755fd44b99202976233c101241b1d37d751d7d89bfc0d83</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1999</creationdate><topic>Amino Acid Substitution</topic><topic>Carcinoma, Medullary - genetics</topic><topic>Codon - genetics</topic><topic>Deoxyribonucleases, Type II Site-Specific</topic><topic>DNA - blood</topic><topic>DNA - genetics</topic><topic>DNA Mutational Analysis - methods</topic><topic>DNA Primers</topic><topic>Drosophila Proteins</topic><topic>Exons - genetics</topic><topic>Female</topic><topic>Genetic Testing - methods</topic><topic>Humans</topic><topic>Male</topic><topic>Pedigree</topic><topic>Point Mutation</topic><topic>Polymorphism, Restriction Fragment Length</topic><topic>Proto-Oncogene Proteins - genetics</topic><topic>Proto-Oncogene Proteins c-ret</topic><topic>Proto-Oncogenes</topic><topic>Receptor Protein-Tyrosine Kinases - genetics</topic><topic>Thyroid Neoplasms - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Dang, G T</creatorcontrib><creatorcontrib>Cote, G J</creatorcontrib><creatorcontrib>Schultz, P N</creatorcontrib><creatorcontrib>Khorana, S</creatorcontrib><creatorcontrib>Decker, R A</creatorcontrib><creatorcontrib>Gagel, R F</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><jtitle>Molecular and cellular probes</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Dang, G T</au><au>Cote, G J</au><au>Schultz, P N</au><au>Khorana, S</au><au>Decker, R A</au><au>Gagel, R F</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A codon 891 exon 15 RET proto-oncogene mutation in familial medullary thyroid carcinoma: a detection strategy</atitle><jtitle>Molecular and cellular probes</jtitle><addtitle>Mol Cell Probes</addtitle><date>1999-02-01</date><risdate>1999</risdate><volume>13</volume><issue>1</issue><spage>77</spage><epage>79</epage><pages>77-79</pages><issn>0890-8508</issn><abstract>A ser891ala RET proto-oncogene mutation has been previously discovered in a single kindred with familial medullary thyroid carcinoma (FMTC). An additional two probands with this mutation and with medullary thyroid carcinoma (MTC) without any other manifestations of MEN 2 have been identified. In one of thse families, two other individuals also had the mutant sequence and FMTC. Analysis of both cases showed cosegregation of the mutation and MTC. To facilitate detection of this mutation, a primer was engineered which creates a Hha I recognition site in the presence of the mutant sequence. As a result, this codon 891 exon 15 mutation can be identified with a restriction enzyme digestion.</abstract><cop>England</cop><pmid>10024437</pmid><doi>10.1006/mcpr.1998.0220</doi><tpages>3</tpages></addata></record> |
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| ispartof | Molecular and cellular probes, 1999-02, Vol.13 (1), p.77-79 |
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| source | MEDLINE; Elsevier ScienceDirect Journals |
| subjects | Amino Acid Substitution Carcinoma, Medullary - genetics Codon - genetics Deoxyribonucleases, Type II Site-Specific DNA - blood DNA - genetics DNA Mutational Analysis - methods DNA Primers Drosophila Proteins Exons - genetics Female Genetic Testing - methods Humans Male Pedigree Point Mutation Polymorphism, Restriction Fragment Length Proto-Oncogene Proteins - genetics Proto-Oncogene Proteins c-ret Proto-Oncogenes Receptor Protein-Tyrosine Kinases - genetics Thyroid Neoplasms - genetics |
| title | A codon 891 exon 15 RET proto-oncogene mutation in familial medullary thyroid carcinoma: a detection strategy |
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