BRCA1 Mutations in Primary Breast and Ovarian Carcinomas
Loss of heterozygosity data from familial tumors suggest that BRCA1, a gene that confers susceptibility to ovarian and early-onset breast cancer, encodes a tumor suppressor. The BRCA1 region is also subject to allelic loss in sporadic breast and ovarian cancers, an indication that BRCA1 mutations ma...
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| Veröffentlicht in: | Science 1994-10, Vol.266 (5182), p.120-122 |
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| creator | Futreal, P. Andrew Liu, Qingyun Shattuck-Eidens, Donna Cochran, Charles Harshman, Keith Tavtigian, Sean Bennett, L. Michelle Haugen-Strano, Astrid Swensen, Jeff Miki, Yoshio Eddington, Ken McClure, Melody Frye, Cheryl Weaver-Feldhaus, Jane Ding, Wei Gholami, Zahra Söderkvist, Peter Terry, Lori Jhanwar, Suresh Berchuck, Andrew Iglehart, J. Dirk Marks, Jeff Ballinger, Dennis G. Barrett, J. Carl Skolnick, Mark H. Kamb, Alexander Wiseman, Roger |
| description | Loss of heterozygosity data from familial tumors suggest that BRCA1, a gene that confers susceptibility to ovarian and early-onset breast cancer, encodes a tumor suppressor. The BRCA1 region is also subject to allelic loss in sporadic breast and ovarian cancers, an indication that BRCA1 mutations may occur somatically in these tumors. The BRCA1 coding region was examined for mutations in primary breast and ovarian tumors that show allele loss at the BRCA1 locus. Mutations were detected in 3 of 32 breast and 1 of 12 ovarian carcinomas; all four mutations were germline alterations and occurred in early-onset cancers. These results suggest that mutation of BRCA1 may not be critical in the development of the majority of breast and ovarian cancers that arise in the absence of a mutant germline allele. |
| doi_str_mv | 10.1126/science.7939630 |
| format | Article |
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Andrew ; Liu, Qingyun ; Shattuck-Eidens, Donna ; Cochran, Charles ; Harshman, Keith ; Tavtigian, Sean ; Bennett, L. Michelle ; Haugen-Strano, Astrid ; Swensen, Jeff ; Miki, Yoshio ; Eddington, Ken ; McClure, Melody ; Frye, Cheryl ; Weaver-Feldhaus, Jane ; Ding, Wei ; Gholami, Zahra ; Söderkvist, Peter ; Terry, Lori ; Jhanwar, Suresh ; Berchuck, Andrew ; Iglehart, J. Dirk ; Marks, Jeff ; Ballinger, Dennis G. ; Barrett, J. Carl ; Skolnick, Mark H. ; Kamb, Alexander ; Wiseman, Roger</creator><creatorcontrib>Futreal, P. Andrew ; Liu, Qingyun ; Shattuck-Eidens, Donna ; Cochran, Charles ; Harshman, Keith ; Tavtigian, Sean ; Bennett, L. Michelle ; Haugen-Strano, Astrid ; Swensen, Jeff ; Miki, Yoshio ; Eddington, Ken ; McClure, Melody ; Frye, Cheryl ; Weaver-Feldhaus, Jane ; Ding, Wei ; Gholami, Zahra ; Söderkvist, Peter ; Terry, Lori ; Jhanwar, Suresh ; Berchuck, Andrew ; Iglehart, J. Dirk ; Marks, Jeff ; Ballinger, Dennis G. ; Barrett, J. Carl ; Skolnick, Mark H. ; Kamb, Alexander ; Wiseman, Roger</creatorcontrib><description>Loss of heterozygosity data from familial tumors suggest that BRCA1, a gene that confers susceptibility to ovarian and early-onset breast cancer, encodes a tumor suppressor. The BRCA1 region is also subject to allelic loss in sporadic breast and ovarian cancers, an indication that BRCA1 mutations may occur somatically in these tumors. The BRCA1 coding region was examined for mutations in primary breast and ovarian tumors that show allele loss at the BRCA1 locus. Mutations were detected in 3 of 32 breast and 1 of 12 ovarian carcinomas; all four mutations were germline alterations and occurred in early-onset cancers. These results suggest that mutation of BRCA1 may not be critical in the development of the majority of breast and ovarian cancers that arise in the absence of a mutant germline allele.</description><identifier>ISSN: 0036-8075</identifier><identifier>EISSN: 1095-9203</identifier><identifier>DOI: 10.1126/science.7939630</identifier><identifier>PMID: 7939630</identifier><identifier>CODEN: SCIEAS</identifier><language>eng</language><publisher>Washington, DC: American Society for the Advancement of Science</publisher><subject>Adult ; African American Family ; African Americans ; Age of Onset ; Alleles ; Base Sequence ; Biological and medical sciences ; BIOLOGY AND MEDICINE, BASIC STUDIES ; BRCA1 Protein ; Breast cancer ; Breast Neoplasms - genetics ; Cancer ; Carcinoma ; CARCINOMAS ; Chromosomes ; Chromosomes, Human, Pair 17 ; Coding ; DETECTION ; ETIOLOGY ; Female ; Fundamental and applied biological sciences. Psychology ; GENE MUTATIONS ; Genes ; Genes, Tumor Suppressor ; Genetic aspects ; Genetic mutation ; Genetic Predisposition to Disease ; Germ cells ; Germ-Line Mutation ; Heterozygote ; HUMAN CHROMOSOME 17 ; Humans ; Loss of heterozygosity ; MAMMARY GLANDS ; Middle Aged ; Molecular and cellular biology ; Molecular genetics ; Molecular Sequence Data ; Mutagenesis. Repair ; Mutation ; Neoplasm Proteins - genetics ; Ovarian cancer ; Ovarian Neoplasms - genetics ; OVARIES ; Patients ; Screening Tests ; Transcription Factors - genetics ; Transcripts (Written Records) ; Tumor suppressor genes ; Tumors</subject><ispartof>Science, 1994-10, Vol.266 (5182), p.120-122</ispartof><rights>Copyright 1994 American Association for the Advancement of Science</rights><rights>1994 INIST-CNRS</rights><rights>COPYRIGHT 1994 American Association for the Advancement of Science</rights><rights>COPYRIGHT 1994 American Association for the Advancement of Science</rights><rights>Copyright American Association for the Advancement of Science Oct 7, 1994</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c730t-239413fa4be6d5cc133c31b83c5943142d80de67fed9727cc31f36cca4bd1f063</citedby><cites>FETCH-LOGICAL-c730t-239413fa4be6d5cc133c31b83c5943142d80de67fed9727cc31f36cca4bd1f063</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.jstor.org/stable/pdf/2884728$$EPDF$$P50$$Gjstor$$H</linktopdf><linktohtml>$$Uhttps://www.jstor.org/stable/2884728$$EHTML$$P50$$Gjstor$$H</linktohtml><link.rule.ids>314,776,780,799,881,2870,2871,27903,27904,57996,58229</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=4266375$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/7939630$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://www.osti.gov/biblio/68720$$D View this record in Osti.gov$$Hfree_for_read</backlink></links><search><creatorcontrib>Futreal, P. Andrew</creatorcontrib><creatorcontrib>Liu, Qingyun</creatorcontrib><creatorcontrib>Shattuck-Eidens, Donna</creatorcontrib><creatorcontrib>Cochran, Charles</creatorcontrib><creatorcontrib>Harshman, Keith</creatorcontrib><creatorcontrib>Tavtigian, Sean</creatorcontrib><creatorcontrib>Bennett, L. Michelle</creatorcontrib><creatorcontrib>Haugen-Strano, Astrid</creatorcontrib><creatorcontrib>Swensen, Jeff</creatorcontrib><creatorcontrib>Miki, Yoshio</creatorcontrib><creatorcontrib>Eddington, Ken</creatorcontrib><creatorcontrib>McClure, Melody</creatorcontrib><creatorcontrib>Frye, Cheryl</creatorcontrib><creatorcontrib>Weaver-Feldhaus, Jane</creatorcontrib><creatorcontrib>Ding, Wei</creatorcontrib><creatorcontrib>Gholami, Zahra</creatorcontrib><creatorcontrib>Söderkvist, Peter</creatorcontrib><creatorcontrib>Terry, Lori</creatorcontrib><creatorcontrib>Jhanwar, Suresh</creatorcontrib><creatorcontrib>Berchuck, Andrew</creatorcontrib><creatorcontrib>Iglehart, J. Dirk</creatorcontrib><creatorcontrib>Marks, Jeff</creatorcontrib><creatorcontrib>Ballinger, Dennis G.</creatorcontrib><creatorcontrib>Barrett, J. Carl</creatorcontrib><creatorcontrib>Skolnick, Mark H.</creatorcontrib><creatorcontrib>Kamb, Alexander</creatorcontrib><creatorcontrib>Wiseman, Roger</creatorcontrib><title>BRCA1 Mutations in Primary Breast and Ovarian Carcinomas</title><title>Science</title><addtitle>Science</addtitle><description>Loss of heterozygosity data from familial tumors suggest that BRCA1, a gene that confers susceptibility to ovarian and early-onset breast cancer, encodes a tumor suppressor. The BRCA1 region is also subject to allelic loss in sporadic breast and ovarian cancers, an indication that BRCA1 mutations may occur somatically in these tumors. The BRCA1 coding region was examined for mutations in primary breast and ovarian tumors that show allele loss at the BRCA1 locus. Mutations were detected in 3 of 32 breast and 1 of 12 ovarian carcinomas; all four mutations were germline alterations and occurred in early-onset cancers. These results suggest that mutation of BRCA1 may not be critical in the development of the majority of breast and ovarian cancers that arise in the absence of a mutant germline allele.</description><subject>Adult</subject><subject>African American Family</subject><subject>African Americans</subject><subject>Age of Onset</subject><subject>Alleles</subject><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>BIOLOGY AND MEDICINE, BASIC STUDIES</subject><subject>BRCA1 Protein</subject><subject>Breast cancer</subject><subject>Breast Neoplasms - genetics</subject><subject>Cancer</subject><subject>Carcinoma</subject><subject>CARCINOMAS</subject><subject>Chromosomes</subject><subject>Chromosomes, Human, Pair 17</subject><subject>Coding</subject><subject>DETECTION</subject><subject>ETIOLOGY</subject><subject>Female</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>GENE MUTATIONS</subject><subject>Genes</subject><subject>Genes, Tumor Suppressor</subject><subject>Genetic aspects</subject><subject>Genetic mutation</subject><subject>Genetic Predisposition to Disease</subject><subject>Germ cells</subject><subject>Germ-Line Mutation</subject><subject>Heterozygote</subject><subject>HUMAN CHROMOSOME 17</subject><subject>Humans</subject><subject>Loss of heterozygosity</subject><subject>MAMMARY GLANDS</subject><subject>Middle Aged</subject><subject>Molecular and cellular biology</subject><subject>Molecular genetics</subject><subject>Molecular Sequence Data</subject><subject>Mutagenesis. Repair</subject><subject>Mutation</subject><subject>Neoplasm Proteins - genetics</subject><subject>Ovarian cancer</subject><subject>Ovarian Neoplasms - genetics</subject><subject>OVARIES</subject><subject>Patients</subject><subject>Screening Tests</subject><subject>Transcription Factors - genetics</subject><subject>Transcripts (Written Records)</subject><subject>Tumor suppressor genes</subject><subject>Tumors</subject><issn>0036-8075</issn><issn>1095-9203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1994</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>8G5</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNqN0s2LEzEYBvAgylqrZy8Kg4h42NlNJjNJ5tgWrQvVil_XkGbeqSnTZE0yy_rfG5mhUumh5DCQ55fAm3kQek7wFSEFuw7agNVwxWtaM4ofoAnBdZXXBaYP0QRjynKBefUYPQlhh3HKanqBLkY-QWL-ZTEj2cc-qmicDZmx2Wdv9sr_zuYeVIiZsk22vlPeKJstlNfGur0KT9GjVnUBno3fKfr-_t23xYd8tV7eLGarXHOKY17QuiS0VeUGWFNpTSjVlGwE1VVdUlIWjcANMN5CU_OC6xS2lGmdDjSkxYxOUTbc60I0Mo0bQf_UzlrQUTLB06BT9GYgt9796iFEuTdBQ9cpC64PktSCViU_A7KaV0yUCb76D-5c722aUxYk3VXVlUjockBb1YE0tnXRK70FC151zkJr0vaMVKLgPL33FOUneFoN7I0-5d8e-UQi3Met6kOQN18_nU3XP86m8-W5VCxXR_TyFNWu62ALMhVisT7i1wPX3oXgoZW3Q-UkwfJvreVYazn2NJ14Of6QfrOH5uD_5a_HXAWtutYrq004sLJgjPIqsRcD24Xo_CEuhCh5IegfQJYCyQ</recordid><startdate>19941007</startdate><enddate>19941007</enddate><creator>Futreal, P. 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Andrew ; Liu, Qingyun ; Shattuck-Eidens, Donna ; Cochran, Charles ; Harshman, Keith ; Tavtigian, Sean ; Bennett, L. Michelle ; Haugen-Strano, Astrid ; Swensen, Jeff ; Miki, Yoshio ; Eddington, Ken ; McClure, Melody ; Frye, Cheryl ; Weaver-Feldhaus, Jane ; Ding, Wei ; Gholami, Zahra ; Söderkvist, Peter ; Terry, Lori ; Jhanwar, Suresh ; Berchuck, Andrew ; Iglehart, J. Dirk ; Marks, Jeff ; Ballinger, Dennis G. ; Barrett, J. 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BioEngineering Abstracts</collection><collection>Environmental Science Database</collection><collection>Earth, Atmospheric & Aquatic Science Database</collection><collection>Materials Science Collection</collection><collection>ProQuest One Education</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>Engineering Collection</collection><collection>Environmental Science Collection</collection><collection>ProQuest Central Basic</collection><collection>University of Michigan</collection><collection>Genetics Abstracts</collection><collection>Biotechnology Research Abstracts</collection><collection>Human Genome Abstracts</collection><collection>Oncogenes and Growth Factors Abstracts</collection><collection>OSTI.GOV</collection><jtitle>Science</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Futreal, P. Andrew</au><au>Liu, Qingyun</au><au>Shattuck-Eidens, Donna</au><au>Cochran, Charles</au><au>Harshman, Keith</au><au>Tavtigian, Sean</au><au>Bennett, L. Michelle</au><au>Haugen-Strano, Astrid</au><au>Swensen, Jeff</au><au>Miki, Yoshio</au><au>Eddington, Ken</au><au>McClure, Melody</au><au>Frye, Cheryl</au><au>Weaver-Feldhaus, Jane</au><au>Ding, Wei</au><au>Gholami, Zahra</au><au>Söderkvist, Peter</au><au>Terry, Lori</au><au>Jhanwar, Suresh</au><au>Berchuck, Andrew</au><au>Iglehart, J. Dirk</au><au>Marks, Jeff</au><au>Ballinger, Dennis G.</au><au>Barrett, J. Carl</au><au>Skolnick, Mark H.</au><au>Kamb, Alexander</au><au>Wiseman, Roger</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>BRCA1 Mutations in Primary Breast and Ovarian Carcinomas</atitle><jtitle>Science</jtitle><addtitle>Science</addtitle><date>1994-10-07</date><risdate>1994</risdate><volume>266</volume><issue>5182</issue><spage>120</spage><epage>122</epage><pages>120-122</pages><issn>0036-8075</issn><eissn>1095-9203</eissn><coden>SCIEAS</coden><abstract>Loss of heterozygosity data from familial tumors suggest that BRCA1, a gene that confers susceptibility to ovarian and early-onset breast cancer, encodes a tumor suppressor. The BRCA1 region is also subject to allelic loss in sporadic breast and ovarian cancers, an indication that BRCA1 mutations may occur somatically in these tumors. The BRCA1 coding region was examined for mutations in primary breast and ovarian tumors that show allele loss at the BRCA1 locus. Mutations were detected in 3 of 32 breast and 1 of 12 ovarian carcinomas; all four mutations were germline alterations and occurred in early-onset cancers. These results suggest that mutation of BRCA1 may not be critical in the development of the majority of breast and ovarian cancers that arise in the absence of a mutant germline allele.</abstract><cop>Washington, DC</cop><pub>American Society for the Advancement of Science</pub><pmid>7939630</pmid><doi>10.1126/science.7939630</doi><tpages>3</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0036-8075 |
| ispartof | Science, 1994-10, Vol.266 (5182), p.120-122 |
| issn | 0036-8075 1095-9203 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_19835470 |
| source | MEDLINE; American Association for the Advancement of Science; Jstor Complete Legacy |
| subjects | Adult African American Family African Americans Age of Onset Alleles Base Sequence Biological and medical sciences BIOLOGY AND MEDICINE, BASIC STUDIES BRCA1 Protein Breast cancer Breast Neoplasms - genetics Cancer Carcinoma CARCINOMAS Chromosomes Chromosomes, Human, Pair 17 Coding DETECTION ETIOLOGY Female Fundamental and applied biological sciences. Psychology GENE MUTATIONS Genes Genes, Tumor Suppressor Genetic aspects Genetic mutation Genetic Predisposition to Disease Germ cells Germ-Line Mutation Heterozygote HUMAN CHROMOSOME 17 Humans Loss of heterozygosity MAMMARY GLANDS Middle Aged Molecular and cellular biology Molecular genetics Molecular Sequence Data Mutagenesis. Repair Mutation Neoplasm Proteins - genetics Ovarian cancer Ovarian Neoplasms - genetics OVARIES Patients Screening Tests Transcription Factors - genetics Transcripts (Written Records) Tumor suppressor genes Tumors |
| title | BRCA1 Mutations in Primary Breast and Ovarian Carcinomas |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-22T20%3A54%3A01IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-gale_osti_&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=BRCA1%20Mutations%20in%20Primary%20Breast%20and%20Ovarian%20Carcinomas&rft.jtitle=Science&rft.au=Futreal,%20P.%20Andrew&rft.date=1994-10-07&rft.volume=266&rft.issue=5182&rft.spage=120&rft.epage=122&rft.pages=120-122&rft.issn=0036-8075&rft.eissn=1095-9203&rft.coden=SCIEAS&rft_id=info:doi/10.1126/science.7939630&rft_dat=%3Cgale_osti_%3EA15827779%3C/gale_osti_%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=213545958&rft_id=info:pmid/7939630&rft_galeid=A15827779&rft_jstor_id=2884728&rfr_iscdi=true |