Risk of Colorectal Cancer for Carriers of Mutations in MUTYH , With and Without a Family History of Cancer
We studied 2332 individuals with monoallelic mutations in MUTYH among 9504 relatives of 264 colorectal cancer (CRC) cases with a MUTYH mutation. We estimated CRC risks through 70 years of age of 7.2% for male carriers of monoallelic mutations (95% confidence interval [CI], 4.6%–11.3%) and 5.6% for f...
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| Veröffentlicht in: | Gastroenterology (New York, N.Y. 1943) N.Y. 1943), 2014-05, Vol.146 (5), p.1208-1211.e5 |
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| container_title | Gastroenterology (New York, N.Y. 1943) |
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| creator | Win, Aung Ko Dowty, James G Cleary, Sean P Kim, Hyeja Buchanan, Daniel D Young, Joanne P Clendenning, Mark Rosty, Christophe MacInnis, Robert J Giles, Graham G Boussioutas, Alex Macrae, Finlay A Parry, Susan Goldblatt, Jack Baron, John A Burnett, Terrilea Le Marchand, Loïc Newcomb, Polly A Haile, Robert W Hopper, John L Cotterchio, Michelle Gallinger, Steven Lindor, Noralane M Tucker, Katherine M Winship, Ingrid M Jenkins, Mark A |
| description | We studied 2332 individuals with monoallelic mutations in MUTYH among 9504 relatives of 264 colorectal cancer (CRC) cases with a MUTYH mutation. We estimated CRC risks through 70 years of age of 7.2% for male carriers of monoallelic mutations (95% confidence interval [CI], 4.6%–11.3%) and 5.6% for female carriers of monoallelic mutations (95% CI, 3.6%–8.8%), irrespective of family history. For monoallelic MUTYH mutation carriers with a first-degree relative with CRC diagnosed by 50 years of age who does not have the MUTYH mutation, risks of CRC were 12.5% for men (95% CI, 8.6%–17.7%) and 10% for women (95% CI, 6.7%–14.4%). Risks of CRC for carriers of monoallelic mutations in MUTYH with a first-degree relative with CRC are sufficiently high to warrant more intensive screening than for the general population. |
| doi_str_mv | 10.1053/j.gastro.2014.01.022 |
| format | Article |
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We estimated CRC risks through 70 years of age of 7.2% for male carriers of monoallelic mutations (95% confidence interval [CI], 4.6%–11.3%) and 5.6% for female carriers of monoallelic mutations (95% CI, 3.6%–8.8%), irrespective of family history. For monoallelic MUTYH mutation carriers with a first-degree relative with CRC diagnosed by 50 years of age who does not have the MUTYH mutation, risks of CRC were 12.5% for men (95% CI, 8.6%–17.7%) and 10% for women (95% CI, 6.7%–14.4%). Risks of CRC for carriers of monoallelic mutations in MUTYH with a first-degree relative with CRC are sufficiently high to warrant more intensive screening than for the general population.</description><identifier>ISSN: 0016-5085</identifier><identifier>EISSN: 1528-0012</identifier><identifier>DOI: 10.1053/j.gastro.2014.01.022</identifier><identifier>PMID: 24444654</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Adult ; Aged ; Aged, 80 and over ; Australia ; Base Excision Repair Gene ; Colon Cancer ; Colorectal Neoplasms - genetics ; DNA Damage Response ; DNA Glycosylases - genetics ; Female ; Gastroenterology and Hepatology ; Genetic Predisposition to Disease ; Genetics ; Heredity ; Heterozygote ; Humans ; Male ; Middle Aged ; Mutation ; New Zealand ; North America ; Pedigree ; Phenotype ; Registries ; Risk Assessment ; Risk Factors</subject><ispartof>Gastroenterology (New York, N.Y. 1943), 2014-05, Vol.146 (5), p.1208-1211.e5</ispartof><rights>AGA Institute</rights><rights>2014 AGA Institute</rights><rights>Copyright © 2014 AGA Institute. Published by Elsevier Inc. All rights reserved.</rights><rights>2014 The American Gastroenterological Association. Published by Elsevier Inc. All rights reserved. 2014</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c518t-eda9624fe9a1490b8a8d951df0bbb30a652708f2e0a28a10625effe9311b3d9c3</citedby><cites>FETCH-LOGICAL-c518t-eda9624fe9a1490b8a8d951df0bbb30a652708f2e0a28a10625effe9311b3d9c3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0016508514000808$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>230,314,776,780,881,3537,27903,27904,65309</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/24444654$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Win, Aung Ko</creatorcontrib><creatorcontrib>Dowty, James G</creatorcontrib><creatorcontrib>Cleary, Sean P</creatorcontrib><creatorcontrib>Kim, Hyeja</creatorcontrib><creatorcontrib>Buchanan, Daniel D</creatorcontrib><creatorcontrib>Young, Joanne P</creatorcontrib><creatorcontrib>Clendenning, Mark</creatorcontrib><creatorcontrib>Rosty, Christophe</creatorcontrib><creatorcontrib>MacInnis, Robert J</creatorcontrib><creatorcontrib>Giles, Graham G</creatorcontrib><creatorcontrib>Boussioutas, Alex</creatorcontrib><creatorcontrib>Macrae, Finlay A</creatorcontrib><creatorcontrib>Parry, Susan</creatorcontrib><creatorcontrib>Goldblatt, Jack</creatorcontrib><creatorcontrib>Baron, John A</creatorcontrib><creatorcontrib>Burnett, Terrilea</creatorcontrib><creatorcontrib>Le Marchand, Loïc</creatorcontrib><creatorcontrib>Newcomb, Polly A</creatorcontrib><creatorcontrib>Haile, Robert W</creatorcontrib><creatorcontrib>Hopper, John L</creatorcontrib><creatorcontrib>Cotterchio, Michelle</creatorcontrib><creatorcontrib>Gallinger, Steven</creatorcontrib><creatorcontrib>Lindor, Noralane M</creatorcontrib><creatorcontrib>Tucker, Katherine M</creatorcontrib><creatorcontrib>Winship, Ingrid M</creatorcontrib><creatorcontrib>Jenkins, Mark A</creatorcontrib><title>Risk of Colorectal Cancer for Carriers of Mutations in MUTYH , With and Without a Family History of Cancer</title><title>Gastroenterology (New York, N.Y. 1943)</title><addtitle>Gastroenterology</addtitle><description>We studied 2332 individuals with monoallelic mutations in MUTYH among 9504 relatives of 264 colorectal cancer (CRC) cases with a MUTYH mutation. We estimated CRC risks through 70 years of age of 7.2% for male carriers of monoallelic mutations (95% confidence interval [CI], 4.6%–11.3%) and 5.6% for female carriers of monoallelic mutations (95% CI, 3.6%–8.8%), irrespective of family history. For monoallelic MUTYH mutation carriers with a first-degree relative with CRC diagnosed by 50 years of age who does not have the MUTYH mutation, risks of CRC were 12.5% for men (95% CI, 8.6%–17.7%) and 10% for women (95% CI, 6.7%–14.4%). Risks of CRC for carriers of monoallelic mutations in MUTYH with a first-degree relative with CRC are sufficiently high to warrant more intensive screening than for the general population.</description><subject>Adult</subject><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>Australia</subject><subject>Base Excision Repair Gene</subject><subject>Colon Cancer</subject><subject>Colorectal Neoplasms - genetics</subject><subject>DNA Damage Response</subject><subject>DNA Glycosylases - genetics</subject><subject>Female</subject><subject>Gastroenterology and Hepatology</subject><subject>Genetic Predisposition to Disease</subject><subject>Genetics</subject><subject>Heredity</subject><subject>Heterozygote</subject><subject>Humans</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>New Zealand</subject><subject>North America</subject><subject>Pedigree</subject><subject>Phenotype</subject><subject>Registries</subject><subject>Risk Assessment</subject><subject>Risk Factors</subject><issn>0016-5085</issn><issn>1528-0012</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2014</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFks9u1DAQxi0EokvLGyDkI4cmzDhx1rkgoRVlkVoh0VaIk-U4TuvdbFxsp9K-TZ-lT1Znt5Q_F3yZkfzNN_b8hpA3CDkCL96v8isVonc5AyxzwBwYe0ZmyJnIAJA9J7MUqoyD4AfkVQgrAKgLgS_JASvTqXg5I-tvNqyp6-jC9c4bHVVPF2rQxtPO-ZR6b40Pk-JsjCpaNwRqB3p2efFjSY_pdxuv7-_U0O4yN0aq6Ina2H5LlzZE57c7853jEXnRqT6Y14_xkFyefLpYLLPTr5-_LD6eZpqjiJlpVV2xsjO1wrKGRijR1hzbDpqmKUBVnM1BdMyAYkIhVIybLqkLxKZoa10ckg9735ux2ZhWmyF61csbbzfKb6VTVv59M9hreeVuZVHXDAVLBu8eDbz7OZoQ5cYGbfpeDcaNQSLHuRDFfF4labmXau9C8KZ7aoMgJ05yJfec5MRJAsrEKZW9_fOJT0W_wPz-g0mDuk0IZNDWpCm2dqIkW2f_1-FfA93bwWrVr83WhJUb_ZAgSJSBSZDn065Mq4JlWhMBongA7gK8Rw</recordid><startdate>20140501</startdate><enddate>20140501</enddate><creator>Win, Aung Ko</creator><creator>Dowty, James G</creator><creator>Cleary, Sean P</creator><creator>Kim, Hyeja</creator><creator>Buchanan, Daniel D</creator><creator>Young, Joanne P</creator><creator>Clendenning, Mark</creator><creator>Rosty, Christophe</creator><creator>MacInnis, Robert J</creator><creator>Giles, Graham G</creator><creator>Boussioutas, Alex</creator><creator>Macrae, Finlay A</creator><creator>Parry, Susan</creator><creator>Goldblatt, Jack</creator><creator>Baron, John A</creator><creator>Burnett, Terrilea</creator><creator>Le Marchand, Loïc</creator><creator>Newcomb, Polly A</creator><creator>Haile, Robert W</creator><creator>Hopper, John L</creator><creator>Cotterchio, Michelle</creator><creator>Gallinger, Steven</creator><creator>Lindor, Noralane M</creator><creator>Tucker, Katherine M</creator><creator>Winship, Ingrid M</creator><creator>Jenkins, Mark A</creator><general>Elsevier Inc</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>7X8</scope><scope>5PM</scope></search><sort><creationdate>20140501</creationdate><title>Risk of Colorectal Cancer for Carriers of Mutations in MUTYH , With and Without a Family History of Cancer</title><author>Win, Aung Ko ; 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We estimated CRC risks through 70 years of age of 7.2% for male carriers of monoallelic mutations (95% confidence interval [CI], 4.6%–11.3%) and 5.6% for female carriers of monoallelic mutations (95% CI, 3.6%–8.8%), irrespective of family history. For monoallelic MUTYH mutation carriers with a first-degree relative with CRC diagnosed by 50 years of age who does not have the MUTYH mutation, risks of CRC were 12.5% for men (95% CI, 8.6%–17.7%) and 10% for women (95% CI, 6.7%–14.4%). Risks of CRC for carriers of monoallelic mutations in MUTYH with a first-degree relative with CRC are sufficiently high to warrant more intensive screening than for the general population.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>24444654</pmid><doi>10.1053/j.gastro.2014.01.022</doi><oa>free_for_read</oa></addata></record> |
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| ispartof | Gastroenterology (New York, N.Y. 1943), 2014-05, Vol.146 (5), p.1208-1211.e5 |
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| source | MEDLINE; Elsevier ScienceDirect Journals; Alma/SFX Local Collection |
| subjects | Adult Aged Aged, 80 and over Australia Base Excision Repair Gene Colon Cancer Colorectal Neoplasms - genetics DNA Damage Response DNA Glycosylases - genetics Female Gastroenterology and Hepatology Genetic Predisposition to Disease Genetics Heredity Heterozygote Humans Male Middle Aged Mutation New Zealand North America Pedigree Phenotype Registries Risk Assessment Risk Factors |
| title | Risk of Colorectal Cancer for Carriers of Mutations in MUTYH , With and Without a Family History of Cancer |
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