Familial breast cancer: double heterozygosity for BRCA1 and BRCA2 mutations with differing phenotypes
The co-existence of mutations in the BRCA1 and BRCA2 genes is unusual, and to date almost all cases reported have had at least one of the Ashkenazi founder mutations. We report on a family in whom individuals are double heterozygotes for a mutation in BRCA1 and a novel splice site mutation in BRCA2....
Gespeichert in:
| Veröffentlicht in: | Familial cancer 2008-06, Vol.7 (2), p.119-124 |
|---|---|
| Hauptverfasser: | , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 124 |
|---|---|
| container_issue | 2 |
| container_start_page | 119 |
| container_title | Familial cancer |
| container_volume | 7 |
| creator | Smith, Margaret Fawcett, Susan Sigalas, Emanouil Bell, Richard Devery, Sophie Andrieska, Nikolina Winship, Ingrid |
| description | The co-existence of mutations in the BRCA1 and BRCA2 genes is unusual, and to date almost all cases reported have had at least one of the Ashkenazi founder mutations. We report on a family in whom individuals are double heterozygotes for a mutation in BRCA1 and a novel splice site mutation in BRCA2. The phenotypes are discordant, where one sister has had multiple cancers in the BRCA spectrum, while the other is unaffected at 65 years of age. The utility of testing is discussed, and the completion of diagnostic testing despite the finding of a potentially causal mutation is validated. |
| doi_str_mv | 10.1007/s10689-007-9154-8 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_69224445</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>19539846</sourcerecordid><originalsourceid>FETCH-LOGICAL-c400t-efb8f14ca3a75b2f7b4a968329704d08e4cca2b41e4430c67ef9cae8a0083e0f3</originalsourceid><addsrcrecordid>eNqFkV1rFTEQhhex2A_9Ad5I8MK7tfnafHjXHqwWCoLodchmJz0pu5s1yVKOv745ngMFQbyaF-aZd5h5m-YtwR8JxvIyEyyUbqtsNel4q140Z6STrJVU05dVs9rVAuPT5jznB4wppky-ak6JFExwSs4auLFTGIMdUZ_A5oKcnR2kT2iIaz8C2kKBFH_v7mMOZYd8TOj6--aKIDsPfxRF01psCXHO6DGULRqC95DCfI-WLcyx7BbIr5sTb8cMb471ovl58_nH5mt79-3L7ebqrnUc49KC75Un3FlmZddTL3tutVCMaon5gBVw5yztOQHOGXZCgtfOgrIYKwbYs4vmw8F3SfHXCrmYKWQH42hniGs2QlPKOe_-CxLdMa24qOD7v8CHuKa5HmEo6eo_hSQVIgfIpZhzAm-WFCabdoZgs0_KHJIye7lPyqg68-5ovPYTDM8Tx2gqQA9AXvbfhPS8-d-uT2wNngw</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>215202671</pqid></control><display><type>article</type><title>Familial breast cancer: double heterozygosity for BRCA1 and BRCA2 mutations with differing phenotypes</title><source>MEDLINE</source><source>SpringerLink Journals - AutoHoldings</source><creator>Smith, Margaret ; Fawcett, Susan ; Sigalas, Emanouil ; Bell, Richard ; Devery, Sophie ; Andrieska, Nikolina ; Winship, Ingrid</creator><creatorcontrib>Smith, Margaret ; Fawcett, Susan ; Sigalas, Emanouil ; Bell, Richard ; Devery, Sophie ; Andrieska, Nikolina ; Winship, Ingrid</creatorcontrib><description>The co-existence of mutations in the BRCA1 and BRCA2 genes is unusual, and to date almost all cases reported have had at least one of the Ashkenazi founder mutations. We report on a family in whom individuals are double heterozygotes for a mutation in BRCA1 and a novel splice site mutation in BRCA2. The phenotypes are discordant, where one sister has had multiple cancers in the BRCA spectrum, while the other is unaffected at 65 years of age. The utility of testing is discussed, and the completion of diagnostic testing despite the finding of a potentially causal mutation is validated.</description><identifier>ISSN: 1389-9600</identifier><identifier>EISSN: 1573-7292</identifier><identifier>DOI: 10.1007/s10689-007-9154-8</identifier><identifier>PMID: 17636421</identifier><identifier>CODEN: FCAAAJ</identifier><language>eng</language><publisher>Dordrecht: Springer Netherlands</publisher><subject>Adult ; Aged ; Biomedical and Life Sciences ; Biomedicine ; BRCA1 Protein - genetics ; BRCA2 Protein - genetics ; Breast Neoplasms - diagnosis ; Breast Neoplasms - genetics ; Cancer Research ; Epidemiology ; Female ; Founder Effect ; Genes, BRCA1 ; Genes, BRCA2 ; Genotype ; Heterozygote ; Human Genetics ; Humans ; Jews - genetics ; Middle Aged ; Mutation ; Pedigree ; Phenotype ; Polymerase Chain Reaction ; Population Surveillance ; Risk Assessment ; Risk Factors</subject><ispartof>Familial cancer, 2008-06, Vol.7 (2), p.119-124</ispartof><rights>Springer Science + Business Media B.V. 2007</rights><rights>Springer Science+Business Media B.V. 2008</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c400t-efb8f14ca3a75b2f7b4a968329704d08e4cca2b41e4430c67ef9cae8a0083e0f3</citedby><cites>FETCH-LOGICAL-c400t-efb8f14ca3a75b2f7b4a968329704d08e4cca2b41e4430c67ef9cae8a0083e0f3</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/s10689-007-9154-8$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s10689-007-9154-8$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,776,780,27901,27902,41464,42533,51294</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/17636421$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Smith, Margaret</creatorcontrib><creatorcontrib>Fawcett, Susan</creatorcontrib><creatorcontrib>Sigalas, Emanouil</creatorcontrib><creatorcontrib>Bell, Richard</creatorcontrib><creatorcontrib>Devery, Sophie</creatorcontrib><creatorcontrib>Andrieska, Nikolina</creatorcontrib><creatorcontrib>Winship, Ingrid</creatorcontrib><title>Familial breast cancer: double heterozygosity for BRCA1 and BRCA2 mutations with differing phenotypes</title><title>Familial cancer</title><addtitle>Familial Cancer</addtitle><addtitle>Fam Cancer</addtitle><description>The co-existence of mutations in the BRCA1 and BRCA2 genes is unusual, and to date almost all cases reported have had at least one of the Ashkenazi founder mutations. We report on a family in whom individuals are double heterozygotes for a mutation in BRCA1 and a novel splice site mutation in BRCA2. The phenotypes are discordant, where one sister has had multiple cancers in the BRCA spectrum, while the other is unaffected at 65 years of age. The utility of testing is discussed, and the completion of diagnostic testing despite the finding of a potentially causal mutation is validated.</description><subject>Adult</subject><subject>Aged</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>BRCA1 Protein - genetics</subject><subject>BRCA2 Protein - genetics</subject><subject>Breast Neoplasms - diagnosis</subject><subject>Breast Neoplasms - genetics</subject><subject>Cancer Research</subject><subject>Epidemiology</subject><subject>Female</subject><subject>Founder Effect</subject><subject>Genes, BRCA1</subject><subject>Genes, BRCA2</subject><subject>Genotype</subject><subject>Heterozygote</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Jews - genetics</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>Pedigree</subject><subject>Phenotype</subject><subject>Polymerase Chain Reaction</subject><subject>Population Surveillance</subject><subject>Risk Assessment</subject><subject>Risk Factors</subject><issn>1389-9600</issn><issn>1573-7292</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2008</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>8G5</sourceid><sourceid>BENPR</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNqFkV1rFTEQhhex2A_9Ad5I8MK7tfnafHjXHqwWCoLodchmJz0pu5s1yVKOv745ngMFQbyaF-aZd5h5m-YtwR8JxvIyEyyUbqtsNel4q140Z6STrJVU05dVs9rVAuPT5jznB4wppky-ak6JFExwSs4auLFTGIMdUZ_A5oKcnR2kT2iIaz8C2kKBFH_v7mMOZYd8TOj6--aKIDsPfxRF01psCXHO6DGULRqC95DCfI-WLcyx7BbIr5sTb8cMb471ovl58_nH5mt79-3L7ebqrnUc49KC75Un3FlmZddTL3tutVCMaon5gBVw5yztOQHOGXZCgtfOgrIYKwbYs4vmw8F3SfHXCrmYKWQH42hniGs2QlPKOe_-CxLdMa24qOD7v8CHuKa5HmEo6eo_hSQVIgfIpZhzAm-WFCabdoZgs0_KHJIye7lPyqg68-5ovPYTDM8Tx2gqQA9AXvbfhPS8-d-uT2wNngw</recordid><startdate>20080601</startdate><enddate>20080601</enddate><creator>Smith, Margaret</creator><creator>Fawcett, Susan</creator><creator>Sigalas, Emanouil</creator><creator>Bell, Richard</creator><creator>Devery, Sophie</creator><creator>Andrieska, Nikolina</creator><creator>Winship, Ingrid</creator><general>Springer Netherlands</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>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8FD</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>8G5</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>K9-</scope><scope>K9.</scope><scope>M0R</scope><scope>M0S</scope><scope>M1P</scope><scope>M2O</scope><scope>MBDVC</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>Q9U</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20080601</creationdate><title>Familial breast cancer: double heterozygosity for BRCA1 and BRCA2 mutations with differing phenotypes</title><author>Smith, Margaret ; Fawcett, Susan ; Sigalas, Emanouil ; Bell, Richard ; Devery, Sophie ; Andrieska, Nikolina ; Winship, Ingrid</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c400t-efb8f14ca3a75b2f7b4a968329704d08e4cca2b41e4430c67ef9cae8a0083e0f3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2008</creationdate><topic>Adult</topic><topic>Aged</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>BRCA1 Protein - genetics</topic><topic>BRCA2 Protein - genetics</topic><topic>Breast Neoplasms - diagnosis</topic><topic>Breast Neoplasms - genetics</topic><topic>Cancer Research</topic><topic>Epidemiology</topic><topic>Female</topic><topic>Founder Effect</topic><topic>Genes, BRCA1</topic><topic>Genes, BRCA2</topic><topic>Genotype</topic><topic>Heterozygote</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Jews - genetics</topic><topic>Middle Aged</topic><topic>Mutation</topic><topic>Pedigree</topic><topic>Phenotype</topic><topic>Polymerase Chain Reaction</topic><topic>Population Surveillance</topic><topic>Risk Assessment</topic><topic>Risk Factors</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Smith, Margaret</creatorcontrib><creatorcontrib>Fawcett, Susan</creatorcontrib><creatorcontrib>Sigalas, Emanouil</creatorcontrib><creatorcontrib>Bell, Richard</creatorcontrib><creatorcontrib>Devery, Sophie</creatorcontrib><creatorcontrib>Andrieska, Nikolina</creatorcontrib><creatorcontrib>Winship, Ingrid</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>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Technology Research Database</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>Research Library (Alumni Edition)</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>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>Research Library Prep</collection><collection>Consumer Health Database (Alumni Edition)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Consumer Health Database</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Research Library</collection><collection>Research Library (Corporate)</collection><collection>Biotechnology and BioEngineering Abstracts</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>ProQuest Central Basic</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Familial cancer</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Smith, Margaret</au><au>Fawcett, Susan</au><au>Sigalas, Emanouil</au><au>Bell, Richard</au><au>Devery, Sophie</au><au>Andrieska, Nikolina</au><au>Winship, Ingrid</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Familial breast cancer: double heterozygosity for BRCA1 and BRCA2 mutations with differing phenotypes</atitle><jtitle>Familial cancer</jtitle><stitle>Familial Cancer</stitle><addtitle>Fam Cancer</addtitle><date>2008-06-01</date><risdate>2008</risdate><volume>7</volume><issue>2</issue><spage>119</spage><epage>124</epage><pages>119-124</pages><issn>1389-9600</issn><eissn>1573-7292</eissn><coden>FCAAAJ</coden><abstract>The co-existence of mutations in the BRCA1 and BRCA2 genes is unusual, and to date almost all cases reported have had at least one of the Ashkenazi founder mutations. We report on a family in whom individuals are double heterozygotes for a mutation in BRCA1 and a novel splice site mutation in BRCA2. The phenotypes are discordant, where one sister has had multiple cancers in the BRCA spectrum, while the other is unaffected at 65 years of age. The utility of testing is discussed, and the completion of diagnostic testing despite the finding of a potentially causal mutation is validated.</abstract><cop>Dordrecht</cop><pub>Springer Netherlands</pub><pmid>17636421</pmid><doi>10.1007/s10689-007-9154-8</doi><tpages>6</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1389-9600 |
| ispartof | Familial cancer, 2008-06, Vol.7 (2), p.119-124 |
| issn | 1389-9600 1573-7292 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_69224445 |
| source | MEDLINE; SpringerLink Journals - AutoHoldings |
| subjects | Adult Aged Biomedical and Life Sciences Biomedicine BRCA1 Protein - genetics BRCA2 Protein - genetics Breast Neoplasms - diagnosis Breast Neoplasms - genetics Cancer Research Epidemiology Female Founder Effect Genes, BRCA1 Genes, BRCA2 Genotype Heterozygote Human Genetics Humans Jews - genetics Middle Aged Mutation Pedigree Phenotype Polymerase Chain Reaction Population Surveillance Risk Assessment Risk Factors |
| title | Familial breast cancer: double heterozygosity for BRCA1 and BRCA2 mutations with differing phenotypes |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-06T12%3A35%3A54IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Familial%20breast%20cancer:%20double%20heterozygosity%20for%20BRCA1%20and%20BRCA2%20mutations%20with%20differing%20phenotypes&rft.jtitle=Familial%20cancer&rft.au=Smith,%20Margaret&rft.date=2008-06-01&rft.volume=7&rft.issue=2&rft.spage=119&rft.epage=124&rft.pages=119-124&rft.issn=1389-9600&rft.eissn=1573-7292&rft.coden=FCAAAJ&rft_id=info:doi/10.1007/s10689-007-9154-8&rft_dat=%3Cproquest_cross%3E19539846%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=215202671&rft_id=info:pmid/17636421&rfr_iscdi=true |