BRCA2, but not BRCA1, mutations account for familial ovarian cancer in Iceland: a population-based study
A single founder mutation in each of the BRCA genes has been identified in Iceland. The frequency of the BRCA1 G5193A and BRCA2 999del5 mutations in all ovarian cancer patients diagnosed over the period 1991–2000 was determined. Mutation status was correlated with family history, tumour morphology a...
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| Veröffentlicht in: | European journal of cancer (1990) 2004-12, Vol.40 (18), p.2788-2793 |
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| container_title | European journal of cancer (1990) |
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| creator | Rafnar, Thorunn Benediktsdottir, Kristrun R. Eldon, Bjarki J. Gestsson, Thorgeir Saemundsson, Hafsteinn Olafsson, Karl Salvarsdottir, Anna Steingrimsson, Eirikur Thorlacius, Steinunn |
| description | A single founder mutation in each of the BRCA genes has been identified in Iceland. The frequency of the
BRCA1 G5193A and
BRCA2 999del5 mutations in all ovarian cancer patients diagnosed over the period 1991–2000 was determined. Mutation status was correlated with family history, tumour morphology and age at diagnosis. Samples from 86% of cases (179 carcinomas and 74 borderline tumours) were available. In the carcinomas,
BRCA1 and
BRCA2 mutations were present in 1.2% and 6% of cases, respectively. No BRCA mutations were found in the borderline tumours. Odds Ratio (OR) of developing ovarian cancer was 20.65 for
BRCA2 carriers. Family history of breast/ovarian cancer was present for 70% of
BRCA2 carriers and approximately 14% for non-carriers with carcinoma. In conclusion,
BRCA2 999del5 is present in 6% of ovarian cancer cases in Iceland and is associated with a 20-fold increase in the risk of the disease. The
BRCA1 G5193A mutation is too rare to contribute significantly to ovarian cancer in Iceland. |
| doi_str_mv | 10.1016/j.ejca.2004.09.008 |
| format | Article |
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BRCA1 G5193A and
BRCA2 999del5 mutations in all ovarian cancer patients diagnosed over the period 1991–2000 was determined. Mutation status was correlated with family history, tumour morphology and age at diagnosis. Samples from 86% of cases (179 carcinomas and 74 borderline tumours) were available. In the carcinomas,
BRCA1 and
BRCA2 mutations were present in 1.2% and 6% of cases, respectively. No BRCA mutations were found in the borderline tumours. Odds Ratio (OR) of developing ovarian cancer was 20.65 for
BRCA2 carriers. Family history of breast/ovarian cancer was present for 70% of
BRCA2 carriers and approximately 14% for non-carriers with carcinoma. In conclusion,
BRCA2 999del5 is present in 6% of ovarian cancer cases in Iceland and is associated with a 20-fold increase in the risk of the disease. The
BRCA1 G5193A mutation is too rare to contribute significantly to ovarian cancer in Iceland.</description><identifier>ISSN: 0959-8049</identifier><identifier>EISSN: 1879-0852</identifier><identifier>DOI: 10.1016/j.ejca.2004.09.008</identifier><identifier>PMID: 15571962</identifier><language>eng</language><publisher>Oxford: Elsevier Ltd</publisher><subject>Adolescent ; Adult ; Aged ; Aged, 80 and over ; Biological and medical sciences ; BRCA1 G5193A ; BRCA2 999del5 ; Chi-Square Distribution ; DNA, Neoplasm - analysis ; Family history ; Female ; Genes, BRCA1 ; Genes, BRCA2 ; Genotype ; Humans ; Iceland ; Iceland - epidemiology ; Medical sciences ; Middle Aged ; Mutation - genetics ; Odds Ratio ; Ovarian cancer ; Ovarian Neoplasms - epidemiology ; Ovarian Neoplasms - genetics ; Pedigree ; Pharmacology. Drug treatments ; Population-based ; Tumors</subject><ispartof>European journal of cancer (1990), 2004-12, Vol.40 (18), p.2788-2793</ispartof><rights>2004 Elsevier Ltd</rights><rights>2005 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c413t-b36ce19f14ff98180cd1755215257078122ff166fe8effdc6b856ff3e9575eaf3</citedby><cites>FETCH-LOGICAL-c413t-b36ce19f14ff98180cd1755215257078122ff166fe8effdc6b856ff3e9575eaf3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0959804904007506$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3536,27903,27904,65309</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=16360890$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/15571962$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Rafnar, Thorunn</creatorcontrib><creatorcontrib>Benediktsdottir, Kristrun R.</creatorcontrib><creatorcontrib>Eldon, Bjarki J.</creatorcontrib><creatorcontrib>Gestsson, Thorgeir</creatorcontrib><creatorcontrib>Saemundsson, Hafsteinn</creatorcontrib><creatorcontrib>Olafsson, Karl</creatorcontrib><creatorcontrib>Salvarsdottir, Anna</creatorcontrib><creatorcontrib>Steingrimsson, Eirikur</creatorcontrib><creatorcontrib>Thorlacius, Steinunn</creatorcontrib><title>BRCA2, but not BRCA1, mutations account for familial ovarian cancer in Iceland: a population-based study</title><title>European journal of cancer (1990)</title><addtitle>Eur J Cancer</addtitle><description>A single founder mutation in each of the BRCA genes has been identified in Iceland. The frequency of the
BRCA1 G5193A and
BRCA2 999del5 mutations in all ovarian cancer patients diagnosed over the period 1991–2000 was determined. Mutation status was correlated with family history, tumour morphology and age at diagnosis. Samples from 86% of cases (179 carcinomas and 74 borderline tumours) were available. In the carcinomas,
BRCA1 and
BRCA2 mutations were present in 1.2% and 6% of cases, respectively. No BRCA mutations were found in the borderline tumours. Odds Ratio (OR) of developing ovarian cancer was 20.65 for
BRCA2 carriers. Family history of breast/ovarian cancer was present for 70% of
BRCA2 carriers and approximately 14% for non-carriers with carcinoma. In conclusion,
BRCA2 999del5 is present in 6% of ovarian cancer cases in Iceland and is associated with a 20-fold increase in the risk of the disease. The
BRCA1 G5193A mutation is too rare to contribute significantly to ovarian cancer in Iceland.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>Biological and medical sciences</subject><subject>BRCA1 G5193A</subject><subject>BRCA2 999del5</subject><subject>Chi-Square Distribution</subject><subject>DNA, Neoplasm - analysis</subject><subject>Family history</subject><subject>Female</subject><subject>Genes, BRCA1</subject><subject>Genes, BRCA2</subject><subject>Genotype</subject><subject>Humans</subject><subject>Iceland</subject><subject>Iceland - epidemiology</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Mutation - genetics</subject><subject>Odds Ratio</subject><subject>Ovarian cancer</subject><subject>Ovarian Neoplasms - epidemiology</subject><subject>Ovarian Neoplasms - genetics</subject><subject>Pedigree</subject><subject>Pharmacology. Drug treatments</subject><subject>Population-based</subject><subject>Tumors</subject><issn>0959-8049</issn><issn>1879-0852</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2004</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkUtr3DAUhUVpaaZp_0AXRZt2FTv3ytardJMMfQQCgdKuhSxLVINtTSU7kH8fT2Ygu3Z1ufCdw-EcQt4j1AgoLne13zlbM4C2Bl0DqBdkg0rqChRnL8kGNNeVglafkTel7ABAqhZekzPkXKIWbEP-XP_cXrEL2i0zndJMDy9e0HGZ7RzTVKh1Li3TTEPKNNgxDtEONN3bHO1EnZ2czzRO9Mb5wU79Z2rpPu2X4Ulddbb4npZ56R_eklfBDsW_O91z8vvb11_bH9Xt3feb7dVt5Vps5qprhPOoA7YhaIUKXI-Sc4accbnGR8ZCQCGCVz6E3olOcRFC4zWX3NvQnJNPR999Tn8XX2YzxrKGW9P5tBQjJDaSg_oviLLBFrlYQXYEXU6lZB_MPsfR5geDYA5DmJ05DGEOQxjQBp7cP5zcl270_bPk1PwKfDwBtjg7hLxWGcszJxoBSsPKfTlyfi3tPvpsiot-rb2P2bvZ9Cn-K8cj-wWlMw</recordid><startdate>20041201</startdate><enddate>20041201</enddate><creator>Rafnar, Thorunn</creator><creator>Benediktsdottir, Kristrun R.</creator><creator>Eldon, Bjarki J.</creator><creator>Gestsson, Thorgeir</creator><creator>Saemundsson, Hafsteinn</creator><creator>Olafsson, Karl</creator><creator>Salvarsdottir, Anna</creator><creator>Steingrimsson, Eirikur</creator><creator>Thorlacius, Steinunn</creator><general>Elsevier Ltd</general><general>Elsevier</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>7TO</scope><scope>H94</scope><scope>7X8</scope></search><sort><creationdate>20041201</creationdate><title>BRCA2, but not BRCA1, mutations account for familial ovarian cancer in Iceland: a population-based study</title><author>Rafnar, Thorunn ; Benediktsdottir, Kristrun R. ; Eldon, Bjarki J. ; Gestsson, Thorgeir ; Saemundsson, Hafsteinn ; Olafsson, Karl ; Salvarsdottir, Anna ; Steingrimsson, Eirikur ; Thorlacius, Steinunn</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c413t-b36ce19f14ff98180cd1755215257078122ff166fe8effdc6b856ff3e9575eaf3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2004</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Aged</topic><topic>Aged, 80 and over</topic><topic>Biological and medical sciences</topic><topic>BRCA1 G5193A</topic><topic>BRCA2 999del5</topic><topic>Chi-Square Distribution</topic><topic>DNA, Neoplasm - analysis</topic><topic>Family history</topic><topic>Female</topic><topic>Genes, BRCA1</topic><topic>Genes, BRCA2</topic><topic>Genotype</topic><topic>Humans</topic><topic>Iceland</topic><topic>Iceland - epidemiology</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Mutation - genetics</topic><topic>Odds Ratio</topic><topic>Ovarian cancer</topic><topic>Ovarian Neoplasms - epidemiology</topic><topic>Ovarian Neoplasms - genetics</topic><topic>Pedigree</topic><topic>Pharmacology. Drug treatments</topic><topic>Population-based</topic><topic>Tumors</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Rafnar, Thorunn</creatorcontrib><creatorcontrib>Benediktsdottir, Kristrun R.</creatorcontrib><creatorcontrib>Eldon, Bjarki J.</creatorcontrib><creatorcontrib>Gestsson, Thorgeir</creatorcontrib><creatorcontrib>Saemundsson, Hafsteinn</creatorcontrib><creatorcontrib>Olafsson, Karl</creatorcontrib><creatorcontrib>Salvarsdottir, Anna</creatorcontrib><creatorcontrib>Steingrimsson, Eirikur</creatorcontrib><creatorcontrib>Thorlacius, Steinunn</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Oncogenes and Growth Factors Abstracts</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>European journal of cancer (1990)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Rafnar, Thorunn</au><au>Benediktsdottir, Kristrun R.</au><au>Eldon, Bjarki J.</au><au>Gestsson, Thorgeir</au><au>Saemundsson, Hafsteinn</au><au>Olafsson, Karl</au><au>Salvarsdottir, Anna</au><au>Steingrimsson, Eirikur</au><au>Thorlacius, Steinunn</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>BRCA2, but not BRCA1, mutations account for familial ovarian cancer in Iceland: a population-based study</atitle><jtitle>European journal of cancer (1990)</jtitle><addtitle>Eur J Cancer</addtitle><date>2004-12-01</date><risdate>2004</risdate><volume>40</volume><issue>18</issue><spage>2788</spage><epage>2793</epage><pages>2788-2793</pages><issn>0959-8049</issn><eissn>1879-0852</eissn><abstract>A single founder mutation in each of the BRCA genes has been identified in Iceland. The frequency of the
BRCA1 G5193A and
BRCA2 999del5 mutations in all ovarian cancer patients diagnosed over the period 1991–2000 was determined. Mutation status was correlated with family history, tumour morphology and age at diagnosis. Samples from 86% of cases (179 carcinomas and 74 borderline tumours) were available. In the carcinomas,
BRCA1 and
BRCA2 mutations were present in 1.2% and 6% of cases, respectively. No BRCA mutations were found in the borderline tumours. Odds Ratio (OR) of developing ovarian cancer was 20.65 for
BRCA2 carriers. Family history of breast/ovarian cancer was present for 70% of
BRCA2 carriers and approximately 14% for non-carriers with carcinoma. In conclusion,
BRCA2 999del5 is present in 6% of ovarian cancer cases in Iceland and is associated with a 20-fold increase in the risk of the disease. The
BRCA1 G5193A mutation is too rare to contribute significantly to ovarian cancer in Iceland.</abstract><cop>Oxford</cop><pub>Elsevier Ltd</pub><pmid>15571962</pmid><doi>10.1016/j.ejca.2004.09.008</doi><tpages>6</tpages></addata></record> |
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| ispartof | European journal of cancer (1990), 2004-12, Vol.40 (18), p.2788-2793 |
| issn | 0959-8049 1879-0852 |
| language | eng |
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| source | MEDLINE; Elsevier ScienceDirect Journals |
| subjects | Adolescent Adult Aged Aged, 80 and over Biological and medical sciences BRCA1 G5193A BRCA2 999del5 Chi-Square Distribution DNA, Neoplasm - analysis Family history Female Genes, BRCA1 Genes, BRCA2 Genotype Humans Iceland Iceland - epidemiology Medical sciences Middle Aged Mutation - genetics Odds Ratio Ovarian cancer Ovarian Neoplasms - epidemiology Ovarian Neoplasms - genetics Pedigree Pharmacology. Drug treatments Population-based Tumors |
| title | BRCA2, but not BRCA1, mutations account for familial ovarian cancer in Iceland: a population-based study |
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