A guide for functional analysis of BRCA1 variants of uncertain significance
Identifieur interne : 002D62 ( Istex/Curation ); précédent : 002D61; suivant : 002D63A guide for functional analysis of BRCA1 variants of uncertain significance
Auteurs : Gaël A. Millot [France] ; Marcelo A. Carvalho [Brésil] ; Sandrine M. Caputo [France] ; Maaike P. G. Vreeswijk [Pays-Bas] ; Melissa A. Brown [Australie] ; Michelle Webb [Royaume-Uni] ; Etienne Rouleau [France] ; Susan L. Neuhausen [États-Unis] ; Thomas V. O. Hansen [Danemark] ; Alvaro Galli [Italie] ; Rita D. Brandão [Pays-Bas] ; Marinus J. Blok [Pays-Bas] ; Aneliya Velkova [États-Unis] ; Fergus J. Couch [États-Unis] ; Alvaro N. A. Monteiro [États-Unis]Source :
- Human Mutation [ 1059-7794 ] ; 2012-11.
Descripteurs français
- Wicri :
- topic : Base de données.
English descriptors
- KwdEn :
- Acad, Allele, Assay, Bard1, Biol, Brca1, Brca1 expression, Brca1 variants, Brca2, Brca2 variants, Brct, Brct domain, Brct domains, Breast cancer, Cancer biol, Cancer risk, Cell line, Cell viability, Centrosome, Chang, Chem, Database, Easton, Family history, Functional analysis, Functional assay, Functional assays, Functional impact, Genet, Genetic testing, Germline, Goldgar, Human mutation, Ligase, Lindor, Missense, Monteiro, Multifactorial, Multifactorial models, Mutat, Mutation, Natl, Nucleic, Nucleic acids, Ovarian, Ovarian cancer, Ovarian cancers, Pathogenic, Pathogenic variant, Pathogenic variants, Phenotype, Phosphopeptide, Phosphorylated, Proc, Proc natl acad, Promoter, Radiation resistance, Recombination, Ring domain, Rodriguez, Scully, Sequence variants, Splice, Suppressor, Tavtigian, Transcription, Tumor suppression, Ubiquitin, Ubiquitin ligase activity, Variant, Wang.
- Teeft :
- Acad, Allele, Assay, Bard1, Biol, Brca1, Brca1 expression, Brca1 variants, Brca2, Brca2 variants, Brct, Brct domain, Brct domains, Breast cancer, Cancer biol, Cancer risk, Cell line, Cell viability, Centrosome, Chang, Chem, Database, Easton, Family history, Functional analysis, Functional assay, Functional assays, Functional impact, Genet, Genetic testing, Germline, Goldgar, Human mutation, Ligase, Lindor, Missense, Monteiro, Multifactorial, Multifactorial models, Mutat, Mutation, Natl, Nucleic, Nucleic acids, Ovarian, Ovarian cancer, Ovarian cancers, Pathogenic, Pathogenic variant, Pathogenic variants, Phenotype, Phosphopeptide, Phosphorylated, Proc, Proc natl acad, Promoter, Radiation resistance, Recombination, Ring domain, Rodriguez, Scully, Sequence variants, Splice, Suppressor, Tavtigian, Transcription, Tumor suppression, Ubiquitin, Ubiquitin ligase activity, Variant, Wang.
Abstract
Germline mutations in the tumor suppressor gene BRCA1 confer an estimated lifetime risk of 56–80% for breast cancer and 15–60% for ovarian cancer. Since the mid 1990s when BRCA1 was identified, genetic testing has revealed over 1,500 unique germline variants. However, for a significant number of these variants, the effect on protein function is unknown making it difficult to infer the consequences on risks of breast and ovarian cancers. Thus, many individuals undergoing genetic testing for BRCA1 mutations receive test results reporting a variant of uncertain clinical significance (VUS), leading to issues in risk assessment, counseling, and preventive care. Here, we describe functional assays for BRCA1 to directly or indirectly assess the impact of a variant on protein conformation or function and how these results can be used to complement genetic data to classify a VUS as to its clinical significance. Importantly, these methods may provide a framework for genome‐wide pathogenicity assignment. Hum Mutat 33:1526–1537, 2012. © 2012 Wiley Periodicals, Inc.
Url:
DOI: 10.1002/humu.22150
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: Pour aller vers cette notice dans l'étape Curation :002D62
Links to Exploration step
ISTEX:F24BD9BD6C55F9C15D260F179453AB3FDC267FA7Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">A guide for functional analysis of BRCA1 variants of uncertain significance</title><author><name sortKey="Millot, Gael A" sort="Millot, Gael A" uniqKey="Millot G" first="Gaël A." last="Millot">Gaël A. Millot</name><affiliation wicri:level="1"><mods:affiliation>Institut Curie, CNRS, UMR 3244 Université Pierre et Marie Curie, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Institut Curie, CNRS, UMR 3244 Université Pierre et Marie Curie, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Carvalho, Marcelo A" sort="Carvalho, Marcelo A" uniqKey="Carvalho M" first="Marcelo A." last="Carvalho">Marcelo A. Carvalho</name><affiliation wicri:level="1"><mods:affiliation>Instituto Federal de Educação, Ciência e Tecnologia, Rio de Janeiro, Brazil</mods:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Instituto Federal de Educação, Ciência e Tecnologia, Rio de Janeiro</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Instituto Nacional de Câncer, Divisão de Farmacologia, Rio de Janeiro, Brazil</mods:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Instituto Nacional de Câncer, Divisão de Farmacologia, Rio de Janeiro</wicri:regionArea></affiliation></author><author><name sortKey="Caputo, Sandrine M" sort="Caputo, Sandrine M" uniqKey="Caputo S" first="Sandrine M." last="Caputo">Sandrine M. Caputo</name><affiliation wicri:level="1"><mods:affiliation>Institut Curie, Hôpital René Huguenin, Service d'Oncogénétique, U735 INSERM, Saint‐Cloud, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Institut Curie, Hôpital René Huguenin, Service d'Oncogénétique, U735 INSERM, Saint‐Cloud</wicri:regionArea></affiliation></author><author><name sortKey="Vreeswijk, Maaike P G" sort="Vreeswijk, Maaike P G" uniqKey="Vreeswijk M" first="Maaike P. G." last="Vreeswijk">Maaike P. G. Vreeswijk</name><affiliation wicri:level="1"><mods:affiliation>Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands</mods:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden</wicri:regionArea></affiliation></author><author><name sortKey="Brown, Melissa A" sort="Brown, Melissa A" uniqKey="Brown M" first="Melissa A." last="Brown">Melissa A. Brown</name><affiliation wicri:level="1"><mods:affiliation>School of Chemistry and Molecular Biosciences, The University of Queensland, St. Lucia, Queensland, Australia</mods:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>School of Chemistry and Molecular Biosciences, The University of Queensland, St. Lucia, Queensland</wicri:regionArea></affiliation></author><author><name sortKey="Webb, Michelle" sort="Webb, Michelle" uniqKey="Webb M" first="Michelle" last="Webb">Michelle Webb</name><affiliation wicri:level="1"><mods:affiliation>University of Manchester, Faculty of Medicine and Human Health, UK</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>University of Manchester, Faculty of Medicine and Human Health</wicri:regionArea></affiliation></author><author><name sortKey="Rouleau, Etienne" sort="Rouleau, Etienne" uniqKey="Rouleau E" first="Etienne" last="Rouleau">Etienne Rouleau</name><affiliation wicri:level="1"><mods:affiliation>Institut Curie, Hôpital René Huguenin, Service d'Oncogénétique, U735 INSERM, Saint‐Cloud, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Institut Curie, Hôpital René Huguenin, Service d'Oncogénétique, U735 INSERM, Saint‐Cloud</wicri:regionArea></affiliation></author><author><name sortKey="Neuhausen, Susan L" sort="Neuhausen, Susan L" uniqKey="Neuhausen S" first="Susan L." last="Neuhausen">Susan L. Neuhausen</name><affiliation wicri:level="2"><mods:affiliation>Department of Population Sciences, Beckman Research Institute of the City of Hope, Duarte, California</mods:affiliation><country>États-Unis</country><placeName><region type="state">Californie</region></placeName><wicri:cityArea>Department of Population Sciences, Beckman Research Institute of the City of Hope, Duarte</wicri:cityArea></affiliation></author><author><name sortKey="Hansen, Thomas V O" sort="Hansen, Thomas V O" uniqKey="Hansen T" first="Thomas V. O." last="Hansen">Thomas V. O. Hansen</name><affiliation wicri:level="1"><mods:affiliation>Center of Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark</mods:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Center of Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen</wicri:regionArea></affiliation></author><author><name sortKey="Galli, Alvaro" sort="Galli, Alvaro" uniqKey="Galli A" first="Alvaro" last="Galli">Alvaro Galli</name><affiliation wicri:level="1"><mods:affiliation>Istituto di Fisiologia Clinica, Consiglio Nazionale delle Ricerche, Pisa Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Istituto di Fisiologia Clinica, Consiglio Nazionale delle Ricerche</wicri:regionArea></affiliation></author><author><name sortKey="Brandao, Rita D" sort="Brandao, Rita D" uniqKey="Brandao R" first="Rita D." last="Brandão">Rita D. Brandão</name><affiliation wicri:level="1"><mods:affiliation>Department of Clinical Genetics, Maastricht University Medical Centre, The Netherlands</mods:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics, Maastricht University Medical Centre</wicri:regionArea></affiliation></author><author><name sortKey="Blok, Marinus J" sort="Blok, Marinus J" uniqKey="Blok M" first="Marinus J." last="Blok">Marinus J. Blok</name><affiliation wicri:level="1"><mods:affiliation>Department of Clinical Genetics, Maastricht University Medical Centre, The Netherlands</mods:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics, Maastricht University Medical Centre</wicri:regionArea></affiliation></author><author><name sortKey="Velkova, Aneliya" sort="Velkova, Aneliya" uniqKey="Velkova A" first="Aneliya" last="Velkova">Aneliya Velkova</name><affiliation wicri:level="2"><mods:affiliation>Cancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Floride</region></placeName><wicri:cityArea>Cancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa</wicri:cityArea></affiliation></author><author><name sortKey="Couch, Fergus J" sort="Couch, Fergus J" uniqKey="Couch F" first="Fergus J." last="Couch">Fergus J. Couch</name><affiliation wicri:level="2"><mods:affiliation>Mayo Clinic, Rochester, Minnesota</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Minnesota</region></placeName><wicri:cityArea>Mayo Clinic, Rochester</wicri:cityArea></affiliation></author><author><name sortKey="Monteiro, Alvaro N A" sort="Monteiro, Alvaro N A" uniqKey="Monteiro A" first="Alvaro N. A." last="Monteiro">Alvaro N. A. Monteiro</name><affiliation wicri:level="2"><mods:affiliation>Cancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Floride</region></placeName><wicri:cityArea>Cancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa</wicri:cityArea></affiliation><affiliation><mods:affiliation>E-mail: alvaro.monteiro@moffitt.org</mods:affiliation><wicri:noCountry code="no comma">E-mail: alvaro.monteiro@moffitt.org</wicri:noCountry></affiliation><affiliation wicri:level="4"><mods:affiliation>Correspondence address: H. Lee Moffitt Cancer Center and Research Institute, 12902 Magnolia Drive, Tampa, FL 33612</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Floride</region></placeName><wicri:cityArea>Correspondence address: H. Lee Moffitt Cancer Center and Research Institute, 12902 Magnolia Drive, Tampa</wicri:cityArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:F24BD9BD6C55F9C15D260F179453AB3FDC267FA7</idno><date when="2012" year="2012">2012</date><idno type="doi">10.1002/humu.22150</idno><idno type="url">https://api.istex.fr/document/F24BD9BD6C55F9C15D260F179453AB3FDC267FA7/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">002D62</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">002D62</idno><idno type="wicri:Area/Istex/Curation">002D62</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">A guide for functional analysis of <hi rend="italic">BRCA1</hi> variants of uncertain significance<ref type="note" target="#fn1"></ref></title><author><name sortKey="Millot, Gael A" sort="Millot, Gael A" uniqKey="Millot G" first="Gaël A." last="Millot">Gaël A. Millot</name><affiliation wicri:level="1"><mods:affiliation>Institut Curie, CNRS, UMR 3244 Université Pierre et Marie Curie, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Institut Curie, CNRS, UMR 3244 Université Pierre et Marie Curie, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Carvalho, Marcelo A" sort="Carvalho, Marcelo A" uniqKey="Carvalho M" first="Marcelo A." last="Carvalho">Marcelo A. Carvalho</name><affiliation wicri:level="1"><mods:affiliation>Instituto Federal de Educação, Ciência e Tecnologia, Rio de Janeiro, Brazil</mods:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Instituto Federal de Educação, Ciência e Tecnologia, Rio de Janeiro</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Instituto Nacional de Câncer, Divisão de Farmacologia, Rio de Janeiro, Brazil</mods:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Instituto Nacional de Câncer, Divisão de Farmacologia, Rio de Janeiro</wicri:regionArea></affiliation></author><author><name sortKey="Caputo, Sandrine M" sort="Caputo, Sandrine M" uniqKey="Caputo S" first="Sandrine M." last="Caputo">Sandrine M. Caputo</name><affiliation wicri:level="1"><mods:affiliation>Institut Curie, Hôpital René Huguenin, Service d'Oncogénétique, U735 INSERM, Saint‐Cloud, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Institut Curie, Hôpital René Huguenin, Service d'Oncogénétique, U735 INSERM, Saint‐Cloud</wicri:regionArea></affiliation></author><author><name sortKey="Vreeswijk, Maaike P G" sort="Vreeswijk, Maaike P G" uniqKey="Vreeswijk M" first="Maaike P. G." last="Vreeswijk">Maaike P. G. Vreeswijk</name><affiliation wicri:level="1"><mods:affiliation>Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands</mods:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden</wicri:regionArea></affiliation></author><author><name sortKey="Brown, Melissa A" sort="Brown, Melissa A" uniqKey="Brown M" first="Melissa A." last="Brown">Melissa A. Brown</name><affiliation wicri:level="1"><mods:affiliation>School of Chemistry and Molecular Biosciences, The University of Queensland, St. Lucia, Queensland, Australia</mods:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>School of Chemistry and Molecular Biosciences, The University of Queensland, St. Lucia, Queensland</wicri:regionArea></affiliation></author><author><name sortKey="Webb, Michelle" sort="Webb, Michelle" uniqKey="Webb M" first="Michelle" last="Webb">Michelle Webb</name><affiliation wicri:level="1"><mods:affiliation>University of Manchester, Faculty of Medicine and Human Health, UK</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>University of Manchester, Faculty of Medicine and Human Health</wicri:regionArea></affiliation></author><author><name sortKey="Rouleau, Etienne" sort="Rouleau, Etienne" uniqKey="Rouleau E" first="Etienne" last="Rouleau">Etienne Rouleau</name><affiliation wicri:level="1"><mods:affiliation>Institut Curie, Hôpital René Huguenin, Service d'Oncogénétique, U735 INSERM, Saint‐Cloud, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Institut Curie, Hôpital René Huguenin, Service d'Oncogénétique, U735 INSERM, Saint‐Cloud</wicri:regionArea></affiliation></author><author><name sortKey="Neuhausen, Susan L" sort="Neuhausen, Susan L" uniqKey="Neuhausen S" first="Susan L." last="Neuhausen">Susan L. Neuhausen</name><affiliation wicri:level="2"><mods:affiliation>Department of Population Sciences, Beckman Research Institute of the City of Hope, Duarte, California</mods:affiliation><country>États-Unis</country><placeName><region type="state">Californie</region></placeName><wicri:cityArea>Department of Population Sciences, Beckman Research Institute of the City of Hope, Duarte</wicri:cityArea></affiliation></author><author><name sortKey="Hansen, Thomas V O" sort="Hansen, Thomas V O" uniqKey="Hansen T" first="Thomas V. O." last="Hansen">Thomas V. O. Hansen</name><affiliation wicri:level="1"><mods:affiliation>Center of Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark</mods:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Center of Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen</wicri:regionArea></affiliation></author><author><name sortKey="Galli, Alvaro" sort="Galli, Alvaro" uniqKey="Galli A" first="Alvaro" last="Galli">Alvaro Galli</name><affiliation wicri:level="1"><mods:affiliation>Istituto di Fisiologia Clinica, Consiglio Nazionale delle Ricerche, Pisa Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Istituto di Fisiologia Clinica, Consiglio Nazionale delle Ricerche</wicri:regionArea></affiliation></author><author><name sortKey="Brandao, Rita D" sort="Brandao, Rita D" uniqKey="Brandao R" first="Rita D." last="Brandão">Rita D. Brandão</name><affiliation wicri:level="1"><mods:affiliation>Department of Clinical Genetics, Maastricht University Medical Centre, The Netherlands</mods:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics, Maastricht University Medical Centre</wicri:regionArea></affiliation></author><author><name sortKey="Blok, Marinus J" sort="Blok, Marinus J" uniqKey="Blok M" first="Marinus J." last="Blok">Marinus J. Blok</name><affiliation wicri:level="1"><mods:affiliation>Department of Clinical Genetics, Maastricht University Medical Centre, The Netherlands</mods:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics, Maastricht University Medical Centre</wicri:regionArea></affiliation></author><author><name sortKey="Velkova, Aneliya" sort="Velkova, Aneliya" uniqKey="Velkova A" first="Aneliya" last="Velkova">Aneliya Velkova</name><affiliation wicri:level="2"><mods:affiliation>Cancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Floride</region></placeName><wicri:cityArea>Cancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa</wicri:cityArea></affiliation></author><author><name sortKey="Couch, Fergus J" sort="Couch, Fergus J" uniqKey="Couch F" first="Fergus J." last="Couch">Fergus J. Couch</name><affiliation wicri:level="2"><mods:affiliation>Mayo Clinic, Rochester, Minnesota</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Minnesota</region></placeName><wicri:cityArea>Mayo Clinic, Rochester</wicri:cityArea></affiliation></author><author><name sortKey="Monteiro, Alvaro N A" sort="Monteiro, Alvaro N A" uniqKey="Monteiro A" first="Alvaro N. A." last="Monteiro">Alvaro N. A. Monteiro</name><affiliation wicri:level="2"><mods:affiliation>Cancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Floride</region></placeName><wicri:cityArea>Cancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa</wicri:cityArea></affiliation><affiliation><mods:affiliation>E-mail: alvaro.monteiro@moffitt.org</mods:affiliation></affiliation><affiliation wicri:level="4"><mods:affiliation>Correspondence address: H. Lee Moffitt Cancer Center and Research Institute, 12902 Magnolia Drive, Tampa, FL 33612</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Floride</region></placeName><wicri:cityArea>Correspondence address: H. Lee Moffitt Cancer Center and Research Institute, 12902 Magnolia Drive, Tampa</wicri:cityArea></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">Human Mutation</title><title level="j" type="alt">HUMAN MUTATION</title><idno type="ISSN">1059-7794</idno><idno type="eISSN">1098-1004</idno><imprint><biblScope unit="vol">33</biblScope><biblScope unit="issue">11</biblScope><biblScope unit="page" from="1526">1526</biblScope><biblScope unit="page" to="1537">1537</biblScope><biblScope unit="page-count">12</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2012-11">2012-11</date></imprint><idno type="ISSN">1059-7794</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1059-7794</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Acad</term><term>Allele</term><term>Assay</term><term>Bard1</term><term>Biol</term><term>Brca1</term><term>Brca1 expression</term><term>Brca1 variants</term><term>Brca2</term><term>Brca2 variants</term><term>Brct</term><term>Brct domain</term><term>Brct domains</term><term>Breast cancer</term><term>Cancer biol</term><term>Cancer risk</term><term>Cell line</term><term>Cell viability</term><term>Centrosome</term><term>Chang</term><term>Chem</term><term>Database</term><term>Easton</term><term>Family history</term><term>Functional analysis</term><term>Functional assay</term><term>Functional assays</term><term>Functional impact</term><term>Genet</term><term>Genetic testing</term><term>Germline</term><term>Goldgar</term><term>Human mutation</term><term>Ligase</term><term>Lindor</term><term>Missense</term><term>Monteiro</term><term>Multifactorial</term><term>Multifactorial models</term><term>Mutat</term><term>Mutation</term><term>Natl</term><term>Nucleic</term><term>Nucleic acids</term><term>Ovarian</term><term>Ovarian cancer</term><term>Ovarian cancers</term><term>Pathogenic</term><term>Pathogenic variant</term><term>Pathogenic variants</term><term>Phenotype</term><term>Phosphopeptide</term><term>Phosphorylated</term><term>Proc</term><term>Proc natl acad</term><term>Promoter</term><term>Radiation resistance</term><term>Recombination</term><term>Ring domain</term><term>Rodriguez</term><term>Scully</term><term>Sequence variants</term><term>Splice</term><term>Suppressor</term><term>Tavtigian</term><term>Transcription</term><term>Tumor suppression</term><term>Ubiquitin</term><term>Ubiquitin ligase activity</term><term>Variant</term><term>Wang</term></keywords><keywords scheme="Teeft" xml:lang="en"><term>Acad</term><term>Allele</term><term>Assay</term><term>Bard1</term><term>Biol</term><term>Brca1</term><term>Brca1 expression</term><term>Brca1 variants</term><term>Brca2</term><term>Brca2 variants</term><term>Brct</term><term>Brct domain</term><term>Brct domains</term><term>Breast cancer</term><term>Cancer biol</term><term>Cancer risk</term><term>Cell line</term><term>Cell viability</term><term>Centrosome</term><term>Chang</term><term>Chem</term><term>Database</term><term>Easton</term><term>Family history</term><term>Functional analysis</term><term>Functional assay</term><term>Functional assays</term><term>Functional impact</term><term>Genet</term><term>Genetic testing</term><term>Germline</term><term>Goldgar</term><term>Human mutation</term><term>Ligase</term><term>Lindor</term><term>Missense</term><term>Monteiro</term><term>Multifactorial</term><term>Multifactorial models</term><term>Mutat</term><term>Mutation</term><term>Natl</term><term>Nucleic</term><term>Nucleic acids</term><term>Ovarian</term><term>Ovarian cancer</term><term>Ovarian cancers</term><term>Pathogenic</term><term>Pathogenic variant</term><term>Pathogenic variants</term><term>Phenotype</term><term>Phosphopeptide</term><term>Phosphorylated</term><term>Proc</term><term>Proc natl acad</term><term>Promoter</term><term>Radiation resistance</term><term>Recombination</term><term>Ring domain</term><term>Rodriguez</term><term>Scully</term><term>Sequence variants</term><term>Splice</term><term>Suppressor</term><term>Tavtigian</term><term>Transcription</term><term>Tumor suppression</term><term>Ubiquitin</term><term>Ubiquitin ligase activity</term><term>Variant</term><term>Wang</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Base de données</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Germline mutations in the tumor suppressor gene BRCA1 confer an estimated lifetime risk of 56–80% for breast cancer and 15–60% for ovarian cancer. Since the mid 1990s when BRCA1 was identified, genetic testing has revealed over 1,500 unique germline variants. However, for a significant number of these variants, the effect on protein function is unknown making it difficult to infer the consequences on risks of breast and ovarian cancers. Thus, many individuals undergoing genetic testing for BRCA1 mutations receive test results reporting a variant of uncertain clinical significance (VUS), leading to issues in risk assessment, counseling, and preventive care. Here, we describe functional assays for BRCA1 to directly or indirectly assess the impact of a variant on protein conformation or function and how these results can be used to complement genetic data to classify a VUS as to its clinical significance. Importantly, these methods may provide a framework for genome‐wide pathogenicity assignment. Hum Mutat 33:1526–1537, 2012. © 2012 Wiley Periodicals, Inc.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Asie/explor/AustralieFrV1/Data/Istex/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 002D62 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Istex/Curation/biblio.hfd -nk 002D62 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Asie
|area= AustralieFrV1
|flux= Istex
|étape= Curation
|type= RBID
|clé= ISTEX:F24BD9BD6C55F9C15D260F179453AB3FDC267FA7
|texte= A guide for functional analysis of BRCA1 variants of uncertain significance
}}
| This area was generated with Dilib version V0.6.33. |  |