Juvenile polyposis, hereditary hemorrhagic telangiectasia, and early onset colorectal cancer in patients with SMAD4 mutation
Background Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder most often caused by mutation in the endoglin or ALK1 genes. A distinct syndrome combines the clinical features of HHT and juvenile polyposis (JP) and has been associated with SMAD4 mutation. The aim of this stu...
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| Veröffentlicht in: | Journal of gastroenterology 2012-07, Vol.47 (7), p.795-804 |
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| creator | Schwenter, Frank Faughnan, Marie E. Gradinger, Abigail B. Berk, Terri Gryfe, Robert Pollett, Aaron Cohen, Zane Gallinger, Steven Durno, Carol |
| description | Background
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder most often caused by mutation in the
endoglin
or
ALK1
genes. A distinct syndrome combines the clinical features of HHT and juvenile polyposis (JP) and has been associated with
SMAD4
mutation. The aim of this study was to describe the phenotype of patients with JP–HHT and
SMAD4
mutations and to compare this phenotype with HHT or JP patients with mutations other than
SMAD4
.
Methods
Patients prospectively enrolled in the Toronto HHT and JP databases who underwent genotyping were included. The phenotypic characteristics of JP–HHT patients with
SMAD4
mutations and patients with mutations other than
SMAD4
were analyzed and compared.
Results
Three hundred and fifty-eight patients underwent genetic testing (HHT,
n
= 332; JP,
n
= 26). Among fourteen patients identified with
SMAD4
mutations, ten met the clinical diagnostic criteria for both JP and HHT (71%). Patients with
SMAD4
mutations had 100% penetrance of the polyposis phenotype. All patients with JP and
SMAD4
mutation had features of HHT. Three JP–HHT patients developed early onset colorectal cancer (CRC) (mean age 28 years). JP–HHT patients with
SMAD4
mutation had a significantly higher rate of anemia than HHT patients with mutations other than
SMAD4
.
Conclusions
Patients with HHT and
SMAD4
mutations are at significant risk of JP and CRC. The gastrointestinal phenotype is similar to JP patients without
SMAD4
mutation. It is essential for HHT patients to undergo genetic testing to determine if they have
SMAD4
mutations so that appropriate gastrointestinal screening and surveillance for JP and CRC can be completed. |
| doi_str_mv | 10.1007/s00535-012-0545-8 |
| format | Article |
| fullrecord | <record><control><sourceid>gale_proqu</sourceid><recordid>TN_cdi_proquest_miscellaneous_1753494989</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><galeid>A714585945</galeid><sourcerecordid>A714585945</sourcerecordid><originalsourceid>FETCH-LOGICAL-c525t-cc0c0e8dcf1decabe1f1d9abbfd390a1c56041dec577330e6304b026f2b96183</originalsourceid><addsrcrecordid>eNqFUsuO1DAQtBCIHQY-gAuyxIXDZmnHdh7H0fLWIg7s3XKczoxXiR1sBzQSH4-jWZ4CIR_c6q4qu7uLkMcMLhhA_TwCSC4LYGUBUsiiuUM2TOSMbMvyLtlAK0TBWC3OyIMYbwAYB9ncJ2dlyTnjVbUhX98tn9HZEensx-Pso43n9IABe5t0OOZw8iEc9N4amnDUbm_RJB2tPqfa9RR1GI_Uu4iJGj_6sFZHarQzGKh1dNbJokuRfrHpQD--370QdFpSznr3kNwb9Bjx0e29JdevXl5fvimuPrx-e7m7KowsZSqMAQPY9GZgPRrdIctBq7tu6HkLmhlZgVhLsq45B6w4iA7Kaii7tmIN35JnJ9k5-E8LxqQmGw2OuRv0S1Sslly0om3a_0OhrHnNITO25Okf0Bu_BJf7WFFVI_OQ2U_UXo-orBt8CtqsompXMyEb2YpV6-IvqHx6nKzxDoe8od8J7EQwwccYcFBzsFNeWH5brd5QJ2-o7A21ekOtY3hy--Glm7D_wfhuhgwoT4CYS26P4deO_qX6DftQw9U</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1026852231</pqid></control><display><type>article</type><title>Juvenile polyposis, hereditary hemorrhagic telangiectasia, and early onset colorectal cancer in patients with SMAD4 mutation</title><source>MEDLINE</source><source>SpringerNature Journals</source><creator>Schwenter, Frank ; Faughnan, Marie E. ; Gradinger, Abigail B. ; Berk, Terri ; Gryfe, Robert ; Pollett, Aaron ; Cohen, Zane ; Gallinger, Steven ; Durno, Carol</creator><creatorcontrib>Schwenter, Frank ; Faughnan, Marie E. ; Gradinger, Abigail B. ; Berk, Terri ; Gryfe, Robert ; Pollett, Aaron ; Cohen, Zane ; Gallinger, Steven ; Durno, Carol</creatorcontrib><description>Background
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder most often caused by mutation in the
endoglin
or
ALK1
genes. A distinct syndrome combines the clinical features of HHT and juvenile polyposis (JP) and has been associated with
SMAD4
mutation. The aim of this study was to describe the phenotype of patients with JP–HHT and
SMAD4
mutations and to compare this phenotype with HHT or JP patients with mutations other than
SMAD4
.
Methods
Patients prospectively enrolled in the Toronto HHT and JP databases who underwent genotyping were included. The phenotypic characteristics of JP–HHT patients with
SMAD4
mutations and patients with mutations other than
SMAD4
were analyzed and compared.
Results
Three hundred and fifty-eight patients underwent genetic testing (HHT,
n
= 332; JP,
n
= 26). Among fourteen patients identified with
SMAD4
mutations, ten met the clinical diagnostic criteria for both JP and HHT (71%). Patients with
SMAD4
mutations had 100% penetrance of the polyposis phenotype. All patients with JP and
SMAD4
mutation had features of HHT. Three JP–HHT patients developed early onset colorectal cancer (CRC) (mean age 28 years). JP–HHT patients with
SMAD4
mutation had a significantly higher rate of anemia than HHT patients with mutations other than
SMAD4
.
Conclusions
Patients with HHT and
SMAD4
mutations are at significant risk of JP and CRC. The gastrointestinal phenotype is similar to JP patients without
SMAD4
mutation. It is essential for HHT patients to undergo genetic testing to determine if they have
SMAD4
mutations so that appropriate gastrointestinal screening and surveillance for JP and CRC can be completed.</description><identifier>ISSN: 0944-1174</identifier><identifier>EISSN: 1435-5922</identifier><identifier>DOI: 10.1007/s00535-012-0545-8</identifier><identifier>PMID: 22331366</identifier><language>eng</language><publisher>Japan: Springer Japan</publisher><subject>Abdominal Surgery ; Adolescent ; Adult ; Age of Onset ; Analysis ; Anemia ; Cancer patients ; Care and treatment ; Child ; Colorectal cancer ; Colorectal Neoplasms - genetics ; Colorectal Surgery ; Databases, Factual ; Development and progression ; Gastroenterology ; Genetic aspects ; Genetic Testing ; Hepatology ; Humans ; Intestinal Polyposis - congenital ; Intestinal Polyposis - genetics ; Medicine ; Medicine & Public Health ; Mutation ; Neoplastic Syndromes, Hereditary - genetics ; Ontario ; Original Article—Alimentary Tract ; Prospective Studies ; Smad4 Protein - genetics ; Surgical Oncology ; Telangiectasia, Hereditary Hemorrhagic - genetics ; Telangiectasis ; Young Adult</subject><ispartof>Journal of gastroenterology, 2012-07, Vol.47 (7), p.795-804</ispartof><rights>Springer 2012</rights><rights>COPYRIGHT 2012 Springer</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c525t-cc0c0e8dcf1decabe1f1d9abbfd390a1c56041dec577330e6304b026f2b96183</citedby><cites>FETCH-LOGICAL-c525t-cc0c0e8dcf1decabe1f1d9abbfd390a1c56041dec577330e6304b026f2b96183</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/s00535-012-0545-8$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s00535-012-0545-8$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,780,784,27924,27925,41488,42557,51319</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/22331366$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Schwenter, Frank</creatorcontrib><creatorcontrib>Faughnan, Marie E.</creatorcontrib><creatorcontrib>Gradinger, Abigail B.</creatorcontrib><creatorcontrib>Berk, Terri</creatorcontrib><creatorcontrib>Gryfe, Robert</creatorcontrib><creatorcontrib>Pollett, Aaron</creatorcontrib><creatorcontrib>Cohen, Zane</creatorcontrib><creatorcontrib>Gallinger, Steven</creatorcontrib><creatorcontrib>Durno, Carol</creatorcontrib><title>Juvenile polyposis, hereditary hemorrhagic telangiectasia, and early onset colorectal cancer in patients with SMAD4 mutation</title><title>Journal of gastroenterology</title><addtitle>J Gastroenterol</addtitle><addtitle>J Gastroenterol</addtitle><description>Background
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder most often caused by mutation in the
endoglin
or
ALK1
genes. A distinct syndrome combines the clinical features of HHT and juvenile polyposis (JP) and has been associated with
SMAD4
mutation. The aim of this study was to describe the phenotype of patients with JP–HHT and
SMAD4
mutations and to compare this phenotype with HHT or JP patients with mutations other than
SMAD4
.
Methods
Patients prospectively enrolled in the Toronto HHT and JP databases who underwent genotyping were included. The phenotypic characteristics of JP–HHT patients with
SMAD4
mutations and patients with mutations other than
SMAD4
were analyzed and compared.
Results
Three hundred and fifty-eight patients underwent genetic testing (HHT,
n
= 332; JP,
n
= 26). Among fourteen patients identified with
SMAD4
mutations, ten met the clinical diagnostic criteria for both JP and HHT (71%). Patients with
SMAD4
mutations had 100% penetrance of the polyposis phenotype. All patients with JP and
SMAD4
mutation had features of HHT. Three JP–HHT patients developed early onset colorectal cancer (CRC) (mean age 28 years). JP–HHT patients with
SMAD4
mutation had a significantly higher rate of anemia than HHT patients with mutations other than
SMAD4
.
Conclusions
Patients with HHT and
SMAD4
mutations are at significant risk of JP and CRC. The gastrointestinal phenotype is similar to JP patients without
SMAD4
mutation. It is essential for HHT patients to undergo genetic testing to determine if they have
SMAD4
mutations so that appropriate gastrointestinal screening and surveillance for JP and CRC can be completed.</description><subject>Abdominal Surgery</subject><subject>Adolescent</subject><subject>Adult</subject><subject>Age of Onset</subject><subject>Analysis</subject><subject>Anemia</subject><subject>Cancer patients</subject><subject>Care and treatment</subject><subject>Child</subject><subject>Colorectal cancer</subject><subject>Colorectal Neoplasms - genetics</subject><subject>Colorectal Surgery</subject><subject>Databases, Factual</subject><subject>Development and progression</subject><subject>Gastroenterology</subject><subject>Genetic aspects</subject><subject>Genetic Testing</subject><subject>Hepatology</subject><subject>Humans</subject><subject>Intestinal Polyposis - congenital</subject><subject>Intestinal Polyposis - genetics</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Mutation</subject><subject>Neoplastic Syndromes, Hereditary - genetics</subject><subject>Ontario</subject><subject>Original Article—Alimentary Tract</subject><subject>Prospective Studies</subject><subject>Smad4 Protein - genetics</subject><subject>Surgical Oncology</subject><subject>Telangiectasia, Hereditary Hemorrhagic - genetics</subject><subject>Telangiectasis</subject><subject>Young Adult</subject><issn>0944-1174</issn><issn>1435-5922</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNqFUsuO1DAQtBCIHQY-gAuyxIXDZmnHdh7H0fLWIg7s3XKczoxXiR1sBzQSH4-jWZ4CIR_c6q4qu7uLkMcMLhhA_TwCSC4LYGUBUsiiuUM2TOSMbMvyLtlAK0TBWC3OyIMYbwAYB9ncJ2dlyTnjVbUhX98tn9HZEensx-Pso43n9IABe5t0OOZw8iEc9N4amnDUbm_RJB2tPqfa9RR1GI_Uu4iJGj_6sFZHarQzGKh1dNbJokuRfrHpQD--370QdFpSznr3kNwb9Bjx0e29JdevXl5fvimuPrx-e7m7KowsZSqMAQPY9GZgPRrdIctBq7tu6HkLmhlZgVhLsq45B6w4iA7Kaii7tmIN35JnJ9k5-E8LxqQmGw2OuRv0S1Sslly0om3a_0OhrHnNITO25Okf0Bu_BJf7WFFVI_OQ2U_UXo-orBt8CtqsompXMyEb2YpV6-IvqHx6nKzxDoe8od8J7EQwwccYcFBzsFNeWH5brd5QJ2-o7A21ekOtY3hy--Glm7D_wfhuhgwoT4CYS26P4deO_qX6DftQw9U</recordid><startdate>20120701</startdate><enddate>20120701</enddate><creator>Schwenter, Frank</creator><creator>Faughnan, Marie E.</creator><creator>Gradinger, Abigail B.</creator><creator>Berk, Terri</creator><creator>Gryfe, Robert</creator><creator>Pollett, Aaron</creator><creator>Cohen, Zane</creator><creator>Gallinger, Steven</creator><creator>Durno, Carol</creator><general>Springer Japan</general><general>Springer</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>7RV</scope><scope>7T5</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>H94</scope><scope>K9-</scope><scope>K9.</scope><scope>KB0</scope><scope>M0R</scope><scope>M0S</scope><scope>M1P</scope><scope>NAPCQ</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope></search><sort><creationdate>20120701</creationdate><title>Juvenile polyposis, hereditary hemorrhagic telangiectasia, and early onset colorectal cancer in patients with SMAD4 mutation</title><author>Schwenter, Frank ; Faughnan, Marie E. ; Gradinger, Abigail B. ; Berk, Terri ; Gryfe, Robert ; Pollett, Aaron ; Cohen, Zane ; Gallinger, Steven ; Durno, Carol</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c525t-cc0c0e8dcf1decabe1f1d9abbfd390a1c56041dec577330e6304b026f2b96183</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2012</creationdate><topic>Abdominal Surgery</topic><topic>Adolescent</topic><topic>Adult</topic><topic>Age of Onset</topic><topic>Analysis</topic><topic>Anemia</topic><topic>Cancer patients</topic><topic>Care and treatment</topic><topic>Child</topic><topic>Colorectal cancer</topic><topic>Colorectal Neoplasms - genetics</topic><topic>Colorectal Surgery</topic><topic>Databases, Factual</topic><topic>Development and progression</topic><topic>Gastroenterology</topic><topic>Genetic aspects</topic><topic>Genetic Testing</topic><topic>Hepatology</topic><topic>Humans</topic><topic>Intestinal Polyposis - congenital</topic><topic>Intestinal Polyposis - genetics</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Mutation</topic><topic>Neoplastic Syndromes, Hereditary - genetics</topic><topic>Ontario</topic><topic>Original Article—Alimentary Tract</topic><topic>Prospective Studies</topic><topic>Smad4 Protein - genetics</topic><topic>Surgical Oncology</topic><topic>Telangiectasia, Hereditary Hemorrhagic - genetics</topic><topic>Telangiectasis</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Schwenter, Frank</creatorcontrib><creatorcontrib>Faughnan, Marie E.</creatorcontrib><creatorcontrib>Gradinger, Abigail B.</creatorcontrib><creatorcontrib>Berk, Terri</creatorcontrib><creatorcontrib>Gryfe, Robert</creatorcontrib><creatorcontrib>Pollett, Aaron</creatorcontrib><creatorcontrib>Cohen, Zane</creatorcontrib><creatorcontrib>Gallinger, Steven</creatorcontrib><creatorcontrib>Durno, Carol</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>Nursing & Allied Health Database</collection><collection>Immunology Abstracts</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>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</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>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>Consumer Health Database (Alumni Edition)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Database (Alumni Edition)</collection><collection>Consumer Health Database</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Nursing & Allied Health Premium</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>MEDLINE - Academic</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><jtitle>Journal of gastroenterology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Schwenter, Frank</au><au>Faughnan, Marie E.</au><au>Gradinger, Abigail B.</au><au>Berk, Terri</au><au>Gryfe, Robert</au><au>Pollett, Aaron</au><au>Cohen, Zane</au><au>Gallinger, Steven</au><au>Durno, Carol</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Juvenile polyposis, hereditary hemorrhagic telangiectasia, and early onset colorectal cancer in patients with SMAD4 mutation</atitle><jtitle>Journal of gastroenterology</jtitle><stitle>J Gastroenterol</stitle><addtitle>J Gastroenterol</addtitle><date>2012-07-01</date><risdate>2012</risdate><volume>47</volume><issue>7</issue><spage>795</spage><epage>804</epage><pages>795-804</pages><issn>0944-1174</issn><eissn>1435-5922</eissn><abstract>Background
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder most often caused by mutation in the
endoglin
or
ALK1
genes. A distinct syndrome combines the clinical features of HHT and juvenile polyposis (JP) and has been associated with
SMAD4
mutation. The aim of this study was to describe the phenotype of patients with JP–HHT and
SMAD4
mutations and to compare this phenotype with HHT or JP patients with mutations other than
SMAD4
.
Methods
Patients prospectively enrolled in the Toronto HHT and JP databases who underwent genotyping were included. The phenotypic characteristics of JP–HHT patients with
SMAD4
mutations and patients with mutations other than
SMAD4
were analyzed and compared.
Results
Three hundred and fifty-eight patients underwent genetic testing (HHT,
n
= 332; JP,
n
= 26). Among fourteen patients identified with
SMAD4
mutations, ten met the clinical diagnostic criteria for both JP and HHT (71%). Patients with
SMAD4
mutations had 100% penetrance of the polyposis phenotype. All patients with JP and
SMAD4
mutation had features of HHT. Three JP–HHT patients developed early onset colorectal cancer (CRC) (mean age 28 years). JP–HHT patients with
SMAD4
mutation had a significantly higher rate of anemia than HHT patients with mutations other than
SMAD4
.
Conclusions
Patients with HHT and
SMAD4
mutations are at significant risk of JP and CRC. The gastrointestinal phenotype is similar to JP patients without
SMAD4
mutation. It is essential for HHT patients to undergo genetic testing to determine if they have
SMAD4
mutations so that appropriate gastrointestinal screening and surveillance for JP and CRC can be completed.</abstract><cop>Japan</cop><pub>Springer Japan</pub><pmid>22331366</pmid><doi>10.1007/s00535-012-0545-8</doi><tpages>10</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0944-1174 |
| ispartof | Journal of gastroenterology, 2012-07, Vol.47 (7), p.795-804 |
| issn | 0944-1174 1435-5922 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_1753494989 |
| source | MEDLINE; SpringerNature Journals |
| subjects | Abdominal Surgery Adolescent Adult Age of Onset Analysis Anemia Cancer patients Care and treatment Child Colorectal cancer Colorectal Neoplasms - genetics Colorectal Surgery Databases, Factual Development and progression Gastroenterology Genetic aspects Genetic Testing Hepatology Humans Intestinal Polyposis - congenital Intestinal Polyposis - genetics Medicine Medicine & Public Health Mutation Neoplastic Syndromes, Hereditary - genetics Ontario Original Article—Alimentary Tract Prospective Studies Smad4 Protein - genetics Surgical Oncology Telangiectasia, Hereditary Hemorrhagic - genetics Telangiectasis Young Adult |
| title | Juvenile polyposis, hereditary hemorrhagic telangiectasia, and early onset colorectal cancer in patients with SMAD4 mutation |
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