Familial site-specific ovarian cancer is linked to BRCA1 on 17q12-21
In a study of nine families with "site-specific" ovarian cancer (criterion: three or more cases of epithelial ovarian cancer and no cases of breast cancer diagnosed at age < 50 years) we have obtained evidence of linkage to the breast-ovarian cancer susceptibility gene, BRCA1 on 17q12-2...
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| Veröffentlicht in: | American journal of human genetics 1994-11, Vol.55 (5), p.870-875 |
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| container_title | American journal of human genetics |
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| creator | Steichen-Gersdorf, E Gallion, H H Ford, D Girodet, C Easton, D F DiCioccio, R A Evans, G Ponder, M A Pye, C Mazoyer, S |
| description | In a study of nine families with "site-specific" ovarian cancer (criterion: three or more cases of epithelial ovarian cancer and no cases of breast cancer diagnosed at age < 50 years) we have obtained evidence of linkage to the breast-ovarian cancer susceptibility gene, BRCA1 on 17q12-21. If the risk of cancer in these families is assumed to be restricted to the ovary, the best estimate of the proportion of families linked to BRCA1 is .78 (95% confidence interval .32-1.0). If predisposition to both breast and ovarian cancer is assumed, the proportion linked is 1.0 (95% confidence interval .46-1.0). The linkage of familial site-specific ovarian cancer to BRCA1 indicates the possibility of predictive testing in such families; however, this is only appropriate in families where the evidence for linkage to BRCA1 is conclusive. |
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If the risk of cancer in these families is assumed to be restricted to the ovary, the best estimate of the proportion of families linked to BRCA1 is .78 (95% confidence interval .32-1.0). If predisposition to both breast and ovarian cancer is assumed, the proportion linked is 1.0 (95% confidence interval .46-1.0). 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If the risk of cancer in these families is assumed to be restricted to the ovary, the best estimate of the proportion of families linked to BRCA1 is .78 (95% confidence interval .32-1.0). If predisposition to both breast and ovarian cancer is assumed, the proportion linked is 1.0 (95% confidence interval .46-1.0). The linkage of familial site-specific ovarian cancer to BRCA1 indicates the possibility of predictive testing in such families; however, this is only appropriate in families where the evidence for linkage to BRCA1 is conclusive.</description><subject>BRCA1 Protein</subject><subject>Chromosomes, Human, Pair 17</subject><subject>Female</subject><subject>Genetic Linkage</subject><subject>Haplotypes</subject><subject>Humans</subject><subject>Lod Score</subject><subject>Neoplasm Proteins - genetics</subject><subject>Original</subject><subject>Ovarian Neoplasms - genetics</subject><subject>Pedigree</subject><subject>Polymerase Chain Reaction</subject><subject>Polymorphism, Genetic</subject><subject>Transcription Factors - genetics</subject><issn>0002-9297</issn><issn>1537-6605</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1994</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpVkM1KAzEURoMotVYfQcjK3UAy6eRnI9RqVSgIouvhJnNHo5lkOpkWfHsVi-jqW3xwDpwDMuWVUIWUrDokU8ZYWZjSqGNykvMbY5xrJiZkooxSYq6n5HoFnQ8eAs1-xCL36HzrHU07GDxE6iA6HKjPNPj4jg0dE716XC44TZFyteFlUfJTctRCyHi23xl5Xt08Le-K9cPt_XKxLnpuxFhwqYx2lpmKaWMbUwHOJddCN65kphSqtUa2CAJbtKpEAIvV3FZgWytFa8SMXP5w-63tsHEYxwFC3Q--g-GjTuDr_0_0r_VL2tXcfGmE-gJc7AFD2mwxj3Xns8MQIGLa5lpJXfHvNDNy_tf0q9h3E5_RS2oo</recordid><startdate>199411</startdate><enddate>199411</enddate><creator>Steichen-Gersdorf, E</creator><creator>Gallion, H H</creator><creator>Ford, D</creator><creator>Girodet, C</creator><creator>Easton, D F</creator><creator>DiCioccio, R A</creator><creator>Evans, G</creator><creator>Ponder, M A</creator><creator>Pye, C</creator><creator>Mazoyer, S</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>199411</creationdate><title>Familial site-specific ovarian cancer is linked to BRCA1 on 17q12-21</title><author>Steichen-Gersdorf, E ; Gallion, H H ; Ford, D ; Girodet, C ; Easton, D F ; DiCioccio, R A ; Evans, G ; Ponder, M A ; Pye, C ; Mazoyer, S</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p193t-16798cb095089bd95ae461838dc209237fb96fea3efeb72eaabe54b5abfb63f93</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1994</creationdate><topic>BRCA1 Protein</topic><topic>Chromosomes, Human, Pair 17</topic><topic>Female</topic><topic>Genetic Linkage</topic><topic>Haplotypes</topic><topic>Humans</topic><topic>Lod Score</topic><topic>Neoplasm Proteins - genetics</topic><topic>Original</topic><topic>Ovarian Neoplasms - genetics</topic><topic>Pedigree</topic><topic>Polymerase Chain Reaction</topic><topic>Polymorphism, Genetic</topic><topic>Transcription Factors - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Steichen-Gersdorf, E</creatorcontrib><creatorcontrib>Gallion, H H</creatorcontrib><creatorcontrib>Ford, D</creatorcontrib><creatorcontrib>Girodet, C</creatorcontrib><creatorcontrib>Easton, D F</creatorcontrib><creatorcontrib>DiCioccio, R A</creatorcontrib><creatorcontrib>Evans, G</creatorcontrib><creatorcontrib>Ponder, M A</creatorcontrib><creatorcontrib>Pye, C</creatorcontrib><creatorcontrib>Mazoyer, S</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>American journal of human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Steichen-Gersdorf, E</au><au>Gallion, H H</au><au>Ford, D</au><au>Girodet, C</au><au>Easton, D F</au><au>DiCioccio, R A</au><au>Evans, G</au><au>Ponder, M A</au><au>Pye, C</au><au>Mazoyer, S</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Familial site-specific ovarian cancer is linked to BRCA1 on 17q12-21</atitle><jtitle>American journal of human genetics</jtitle><addtitle>Am J Hum Genet</addtitle><date>1994-11</date><risdate>1994</risdate><volume>55</volume><issue>5</issue><spage>870</spage><epage>875</epage><pages>870-875</pages><issn>0002-9297</issn><eissn>1537-6605</eissn><abstract>In a study of nine families with "site-specific" ovarian cancer (criterion: three or more cases of epithelial ovarian cancer and no cases of breast cancer diagnosed at age < 50 years) we have obtained evidence of linkage to the breast-ovarian cancer susceptibility gene, BRCA1 on 17q12-21. If the risk of cancer in these families is assumed to be restricted to the ovary, the best estimate of the proportion of families linked to BRCA1 is .78 (95% confidence interval .32-1.0). If predisposition to both breast and ovarian cancer is assumed, the proportion linked is 1.0 (95% confidence interval .46-1.0). The linkage of familial site-specific ovarian cancer to BRCA1 indicates the possibility of predictive testing in such families; however, this is only appropriate in families where the evidence for linkage to BRCA1 is conclusive.</abstract><cop>United States</cop><pmid>7977348</pmid><tpages>6</tpages></addata></record> |
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| source | MEDLINE; Elsevier ScienceDirect Journals; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central |
| subjects | BRCA1 Protein Chromosomes, Human, Pair 17 Female Genetic Linkage Haplotypes Humans Lod Score Neoplasm Proteins - genetics Original Ovarian Neoplasms - genetics Pedigree Polymerase Chain Reaction Polymorphism, Genetic Transcription Factors - genetics |
| title | Familial site-specific ovarian cancer is linked to BRCA1 on 17q12-21 |
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