Elucidation of the Transmission of a Novel Mutation in BRCA1 (1125delCT) in a Family with Multiple Cases of Breast Cancer
In a family with multiple members affected by breast cancer we identified the novel mutation 1125delCT (exon 11) in BRCA1. Three out of three offsprings have the novel mutation while the mother affected by breast cancer does not carry the mutation. Linkage analysis revealed the transmission of the h...
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| Veröffentlicht in: | Cancer genomics & proteomics 2009-07, Vol.6 (4), p.215-218 |
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| container_title | Cancer genomics & proteomics |
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| creator | Razis, Evangelia Belogianni, Ioulia Siamanta, Vagia Apessos, Angela Kyriakopoulou, Vanessa Papadopoulou, Eirini Sariyanni, Mahi Theofilopoulos, Dionysios Labropoulos, Stefanos Nasioulas, Georgios |
| description | In a family with multiple members affected by breast cancer we identified the novel mutation 1125delCT (exon 11) in BRCA1.
Three out of three offsprings have the novel mutation while the mother affected by breast cancer does not carry the mutation.
Linkage analysis revealed the transmission of the healthy haplotype from the mother to the three offsprings while the children
inherited the mutated haplotype from the father. Our data document in an unquestionable way where the mutated haplotype was
inherited from. In some families, although the transmission pathway seems obvious, the molecular analysis yields surprising
results. |
| format | Article |
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Three out of three offsprings have the novel mutation while the mother affected by breast cancer does not carry the mutation.
Linkage analysis revealed the transmission of the healthy haplotype from the mother to the three offsprings while the children
inherited the mutated haplotype from the father. Our data document in an unquestionable way where the mutated haplotype was
inherited from. In some families, although the transmission pathway seems obvious, the molecular analysis yields surprising
results.</description><identifier>ISSN: 1109-6535</identifier><identifier>EISSN: 1790-6245</identifier><identifier>PMID: 19656998</identifier><language>eng</language><publisher>Greece: International Institute of Anticancer Research</publisher><subject>Aged, 80 and over ; BRCA1 Protein - genetics ; Breast Neoplasms - genetics ; Family ; Female ; Humans ; Inheritance Patterns - genetics ; Male ; Middle Aged ; Mutation - genetics ; Pedigree</subject><ispartof>Cancer genomics & proteomics, 2009-07, Vol.6 (4), p.215-218</ispartof><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/19656998$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Razis, Evangelia</creatorcontrib><creatorcontrib>Belogianni, Ioulia</creatorcontrib><creatorcontrib>Siamanta, Vagia</creatorcontrib><creatorcontrib>Apessos, Angela</creatorcontrib><creatorcontrib>Kyriakopoulou, Vanessa</creatorcontrib><creatorcontrib>Papadopoulou, Eirini</creatorcontrib><creatorcontrib>Sariyanni, Mahi</creatorcontrib><creatorcontrib>Theofilopoulos, Dionysios</creatorcontrib><creatorcontrib>Labropoulos, Stefanos</creatorcontrib><creatorcontrib>Nasioulas, Georgios</creatorcontrib><title>Elucidation of the Transmission of a Novel Mutation in BRCA1 (1125delCT) in a Family with Multiple Cases of Breast Cancer</title><title>Cancer genomics & proteomics</title><addtitle>Cancer Genomics Proteomics</addtitle><description>In a family with multiple members affected by breast cancer we identified the novel mutation 1125delCT (exon 11) in BRCA1.
Three out of three offsprings have the novel mutation while the mother affected by breast cancer does not carry the mutation.
Linkage analysis revealed the transmission of the healthy haplotype from the mother to the three offsprings while the children
inherited the mutated haplotype from the father. Our data document in an unquestionable way where the mutated haplotype was
inherited from. In some families, although the transmission pathway seems obvious, the molecular analysis yields surprising
results.</description><subject>Aged, 80 and over</subject><subject>BRCA1 Protein - genetics</subject><subject>Breast Neoplasms - genetics</subject><subject>Family</subject><subject>Female</subject><subject>Humans</subject><subject>Inheritance Patterns - genetics</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Mutation - genetics</subject><subject>Pedigree</subject><issn>1109-6535</issn><issn>1790-6245</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2009</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNo1kF9LwzAUxYsoTqdfQfIgog-F_E_zuJVNhakg8zmkbbpG0nY2qWPf3ozNp3vP4cfhnnuWXCEhYcoxZedxR1CmnBE2Sa69_4aQCkLhZTJBkjMuZXaV7BduLG2lg-070NcgNAasB9351np_8jR473-NA29jOHK2A_PPfIbAI0KYVcbl66eDqcFSt9btwc6GJuIu2K0zINfe-EPQfDDah6i70gw3yUWtnTe3pzlNvpaLdf6Srj6eX_PZKm0QIyHlmagllIJSnGmksWAIY0klKnlBaU0IF5qWODOkJARVAhY1M4wSxgscBSLT5OGYux36n9H4oGK10jinO9OPXmEoJGNIRvDuBI5Fayq1HWyrh736f1YE7o9AYzfNzg5G-VY7F3Giys2WK6pwvPkPfy1wXA</recordid><startdate>200907</startdate><enddate>200907</enddate><creator>Razis, Evangelia</creator><creator>Belogianni, Ioulia</creator><creator>Siamanta, Vagia</creator><creator>Apessos, Angela</creator><creator>Kyriakopoulou, Vanessa</creator><creator>Papadopoulou, Eirini</creator><creator>Sariyanni, Mahi</creator><creator>Theofilopoulos, Dionysios</creator><creator>Labropoulos, Stefanos</creator><creator>Nasioulas, Georgios</creator><general>International Institute of Anticancer Research</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7QO</scope><scope>7TM</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope></search><sort><creationdate>200907</creationdate><title>Elucidation of the Transmission of a Novel Mutation in BRCA1 (1125delCT) in a Family with Multiple Cases of Breast Cancer</title><author>Razis, Evangelia ; Belogianni, Ioulia ; Siamanta, Vagia ; Apessos, Angela ; Kyriakopoulou, Vanessa ; Papadopoulou, Eirini ; Sariyanni, Mahi ; Theofilopoulos, Dionysios ; Labropoulos, Stefanos ; Nasioulas, Georgios</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-h153t-687f90974428a1a2751229491c6b44f3367a4c28e3c331d70bf5e54356b270b13</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2009</creationdate><topic>Aged, 80 and over</topic><topic>BRCA1 Protein - genetics</topic><topic>Breast Neoplasms - genetics</topic><topic>Family</topic><topic>Female</topic><topic>Humans</topic><topic>Inheritance Patterns - genetics</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Mutation - genetics</topic><topic>Pedigree</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Razis, Evangelia</creatorcontrib><creatorcontrib>Belogianni, Ioulia</creatorcontrib><creatorcontrib>Siamanta, Vagia</creatorcontrib><creatorcontrib>Apessos, Angela</creatorcontrib><creatorcontrib>Kyriakopoulou, Vanessa</creatorcontrib><creatorcontrib>Papadopoulou, Eirini</creatorcontrib><creatorcontrib>Sariyanni, Mahi</creatorcontrib><creatorcontrib>Theofilopoulos, Dionysios</creatorcontrib><creatorcontrib>Labropoulos, Stefanos</creatorcontrib><creatorcontrib>Nasioulas, Georgios</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>Biotechnology Research Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><jtitle>Cancer genomics & proteomics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Razis, Evangelia</au><au>Belogianni, Ioulia</au><au>Siamanta, Vagia</au><au>Apessos, Angela</au><au>Kyriakopoulou, Vanessa</au><au>Papadopoulou, Eirini</au><au>Sariyanni, Mahi</au><au>Theofilopoulos, Dionysios</au><au>Labropoulos, Stefanos</au><au>Nasioulas, Georgios</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Elucidation of the Transmission of a Novel Mutation in BRCA1 (1125delCT) in a Family with Multiple Cases of Breast Cancer</atitle><jtitle>Cancer genomics & proteomics</jtitle><addtitle>Cancer Genomics Proteomics</addtitle><date>2009-07</date><risdate>2009</risdate><volume>6</volume><issue>4</issue><spage>215</spage><epage>218</epage><pages>215-218</pages><issn>1109-6535</issn><eissn>1790-6245</eissn><abstract>In a family with multiple members affected by breast cancer we identified the novel mutation 1125delCT (exon 11) in BRCA1.
Three out of three offsprings have the novel mutation while the mother affected by breast cancer does not carry the mutation.
Linkage analysis revealed the transmission of the healthy haplotype from the mother to the three offsprings while the children
inherited the mutated haplotype from the father. Our data document in an unquestionable way where the mutated haplotype was
inherited from. In some families, although the transmission pathway seems obvious, the molecular analysis yields surprising
results.</abstract><cop>Greece</cop><pub>International Institute of Anticancer Research</pub><pmid>19656998</pmid><tpages>4</tpages></addata></record> |
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| language | eng |
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| source | MEDLINE; EZB-FREE-00999 freely available EZB journals |
| subjects | Aged, 80 and over BRCA1 Protein - genetics Breast Neoplasms - genetics Family Female Humans Inheritance Patterns - genetics Male Middle Aged Mutation - genetics Pedigree |
| title | Elucidation of the Transmission of a Novel Mutation in BRCA1 (1125delCT) in a Family with Multiple Cases of Breast Cancer |
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