AustralieFrV1, Main, Exploration, bibRecord, 009402

Prediction of BRCA1 and BRCA2 mutation status using post-irradiation assays of lymphoblastoid cell lines is compromised by inter-cell-line phenotypic variability

Identifieur interne : 009402 ( Main/Exploration ); précédent : 009401; suivant : 009403

Prediction of BRCA1 and BRCA2 mutation status using post-irradiation assays of lymphoblastoid cell lines is compromised by inter-cell-line phenotypic variability

Auteurs : Paul K. Lovelock [Australie] ; EE MING WONG [Australie] ; Carl N. Sprung [Australie] ; Anna Marsh [Australie] ; Karen Hobson [Australie] ; Juliet D. French [Australie] ; Melissa Southey [Australie, France] ; Kconfab Investigators [Australie] ; Tom Sculley [Australie] ; Nirmala Pandeya [Australie] ; Melissa A. Brown [Australie] ; Georgia Chenevix-Trench [Australie] ; Amanda B. Spurdle [Australie] ; Michael J. Mckay [Australie]

Source :

Breast cancer research and treatment [ 0167-6806 ] ; 2007.

RBID : Pascal:07-0418973

Descripteurs français

Pascal (Inist)
- Prédiction, Facteur prédictif, Gène suppresseur tumeur, Gène BRCA1, Gène BRCA2, Mutation, Génétique, Irradiation, Cellule lymphoblastoïde, In vitro, Lignée cellulaire établie, Variation phénotypique, Métabolisme.
Wicri :
- topic : Génétique, Irradiation.

English descriptors

KwdEn :
- BRCA1 gene, BRCA2 gene, Established cell line, Genetics, In vitro, Irradiation, Lymphoblastoid cell, Metabolism, Mutation, Phenotype variation, Prediction, Predictive factor, Tumor suppressor gene.

Abstract

Background and purpose Assays to determine the pathogenicity of unclassified sequence variants in disease-associated genes include the analysis of lymphoblastoid cell lines (LCLs). We assessed the ability of several assays of LCLs to distinguish carriers of germline BRCA1 and BRCA2 gene mutations from mutation-negative controls to determine their utility for use in a diagnostic setting. Materials and methods Post-ionising radiation cell viability and micronucleus formation, and telomere length were assayed in LCLs carrying BRCA1 or BRCA2 mutations, and in unaffected mutation-negative controls. Results Post-irradiation cell viability and micronucleus induction assays of LCLs from individuals carrying pathogenic BRCA1 mutations, unclassified BRCA1 sequence variants or wildtype BRCA1 sequence showed significant phenotypic heterogeneity within each group. Responses were not consistent with predicted functional consequences of known pathogenic or normal sequences. Telomere length was also highly heterogeneous within groups of LCLs carrying pathogenic BRCA1 or BRCA2 mutations, and normal BRCA1 sequences, and was not predictive of mutation status. Conclusion Given the significant degree of phenotypic heterogeneity of LCLs after γ-irradiation, and the lack of association with BRCA1 or BRCA2 mutation status, we conclude that the assays evaluated in this study should not be used as a means of differentiating pathogenic and non-pathogenic sequence variants for clinical application. We suggest that a range of normal controls must be included in any functional assays of LCLs to ensure that any observed differences between samples reflect the genotype under investigation rather than generic inter-individual variation.

Affiliations:

Links toward previous steps (curation, corpus...)

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Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Prediction of BRCA1 and BRCA2 mutation status using post-irradiation assays of lymphoblastoid cell lines is compromised by inter-cell-line phenotypic variability</title>
<author><name sortKey="Lovelock, Paul K" sort="Lovelock, Paul K" uniqKey="Lovelock P" first="Paul K." last="Lovelock">Paul K. Lovelock</name>
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<author><name sortKey="Ee Ming Wong" sort="Ee Ming Wong" uniqKey="Ee Ming Wong" last="Ee Ming Wong">EE MING WONG</name>
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<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
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<country>Australie</country>
<wicri:noRegion>Herston, Brisbane, QLD 4006</wicri:noRegion>
</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"><inist:fA14 i1="01"><s1>School of Molecular and Microbial Sciences, University of Queensland</s1>
<s2>Brisbane</s2>
<s3>AUS</s3>
<sZ>1 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Brisbane</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Chenevix Trench, Georgia" sort="Chenevix Trench, Georgia" uniqKey="Chenevix Trench G" first="Georgia" last="Chenevix-Trench">Georgia Chenevix-Trench</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Queensland Institute of Medical Research, 300 Herston Rd</s1>
<s2>Herston, Brisbane, QLD 4006</s2>
<s3>AUS</s3>
<sZ>1 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Herston, Brisbane, QLD 4006</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Spurdle, Amanda B" sort="Spurdle, Amanda B" uniqKey="Spurdle A" first="Amanda B." last="Spurdle">Amanda B. Spurdle</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Queensland Institute of Medical Research, 300 Herston Rd</s1>
<s2>Herston, Brisbane, QLD 4006</s2>
<s3>AUS</s3>
<sZ>1 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Herston, Brisbane, QLD 4006</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mckay, Michael J" sort="Mckay, Michael J" uniqKey="Mckay M" first="Michael J." last="Mckay">Michael J. Mckay</name>
<affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Peter MacCallum Cancer Centre</s1>
<s2>Melbourne</s2>
<s3>AUS</s3>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>14 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<placeName><settlement type="city">Melbourne</settlement>
<region type="état">Victoria (État)</region>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Breast cancer research and treatment</title>
<title level="j" type="abbreviated">Breast cancer res. treat.</title>
<idno type="ISSN">0167-6806</idno>
<imprint><date when="2007">2007</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Breast cancer research and treatment</title>
<title level="j" type="abbreviated">Breast cancer res. treat.</title>
<idno type="ISSN">0167-6806</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>BRCA1 gene</term>
<term>BRCA2 gene</term>
<term>Established cell line</term>
<term>Genetics</term>
<term>In vitro</term>
<term>Irradiation</term>
<term>Lymphoblastoid cell</term>
<term>Metabolism</term>
<term>Mutation</term>
<term>Phenotype variation</term>
<term>Prediction</term>
<term>Predictive factor</term>
<term>Tumor suppressor gene</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Prédiction</term>
<term>Facteur prédictif</term>
<term>Gène suppresseur tumeur</term>
<term>Gène BRCA1</term>
<term>Gène BRCA2</term>
<term>Mutation</term>
<term>Génétique</term>
<term>Irradiation</term>
<term>Cellule lymphoblastoïde</term>
<term>In vitro</term>
<term>Lignée cellulaire établie</term>
<term>Variation phénotypique</term>
<term>Métabolisme</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Génétique</term>
<term>Irradiation</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Background and purpose Assays to determine the pathogenicity of unclassified sequence variants in disease-associated genes include the analysis of lymphoblastoid cell lines (LCLs). We assessed the ability of several assays of LCLs to distinguish carriers of germline BRCA1 and BRCA2 gene mutations from mutation-negative controls to determine their utility for use in a diagnostic setting. Materials and methods Post-ionising radiation cell viability and micronucleus formation, and telomere length were assayed in LCLs carrying BRCA1 or BRCA2 mutations, and in unaffected mutation-negative controls. Results Post-irradiation cell viability and micronucleus induction assays of LCLs from individuals carrying pathogenic BRCA1 mutations, unclassified BRCA1 sequence variants or wildtype BRCA1 sequence showed significant phenotypic heterogeneity within each group. Responses were not consistent with predicted functional consequences of known pathogenic or normal sequences. Telomere length was also highly heterogeneous within groups of LCLs carrying pathogenic BRCA1 or BRCA2 mutations, and normal BRCA1 sequences, and was not predictive of mutation status. Conclusion Given the significant degree of phenotypic heterogeneity of LCLs after γ-irradiation, and the lack of association with BRCA1 or BRCA2 mutation status, we conclude that the assays evaluated in this study should not be used as a means of differentiating pathogenic and non-pathogenic sequence variants for clinical application. We suggest that a range of normal controls must be included in any functional assays of LCLs to ensure that any observed differences between samples reflect the genotype under investigation rather than generic inter-individual variation.</div>
</front>
</TEI>
<affiliations><list><country><li>Australie</li>
<li>France</li>
</country>
<region><li>Auvergne-Rhône-Alpes</li>
<li>Rhône-Alpes</li>
<li>Victoria (État)</li>
</region>
<settlement><li>Lyon</li>
<li>Melbourne</li>
</settlement>
<orgName><li>Université de Melbourne</li>
</orgName>
</list>
<tree><country name="Australie"><noRegion><name sortKey="Lovelock, Paul K" sort="Lovelock, Paul K" uniqKey="Lovelock P" first="Paul K." last="Lovelock">Paul K. Lovelock</name>
</noRegion>
<name sortKey="Brown, Melissa A" sort="Brown, Melissa A" uniqKey="Brown M" first="Melissa A." last="Brown">Melissa A. Brown</name>
<name sortKey="Chenevix Trench, Georgia" sort="Chenevix Trench, Georgia" uniqKey="Chenevix Trench G" first="Georgia" last="Chenevix-Trench">Georgia Chenevix-Trench</name>
<name sortKey="Ee Ming Wong" sort="Ee Ming Wong" uniqKey="Ee Ming Wong" last="Ee Ming Wong">EE MING WONG</name>
<name sortKey="Ee Ming Wong" sort="Ee Ming Wong" uniqKey="Ee Ming Wong" last="Ee Ming Wong">EE MING WONG</name>
<name sortKey="French, Juliet D" sort="French, Juliet D" uniqKey="French J" first="Juliet D." last="French">Juliet D. French</name>
<name sortKey="Hobson, Karen" sort="Hobson, Karen" uniqKey="Hobson K" first="Karen" last="Hobson">Karen Hobson</name>
<name sortKey="Investigators, Kconfab" sort="Investigators, Kconfab" uniqKey="Investigators K" first="Kconfab" last="Investigators">Kconfab Investigators</name>
<name sortKey="Lovelock, Paul K" sort="Lovelock, Paul K" uniqKey="Lovelock P" first="Paul K." last="Lovelock">Paul K. Lovelock</name>
<name sortKey="Marsh, Anna" sort="Marsh, Anna" uniqKey="Marsh A" first="Anna" last="Marsh">Anna Marsh</name>
<name sortKey="Mckay, Michael J" sort="Mckay, Michael J" uniqKey="Mckay M" first="Michael J." last="Mckay">Michael J. Mckay</name>
<name sortKey="Pandeya, Nirmala" sort="Pandeya, Nirmala" uniqKey="Pandeya N" first="Nirmala" last="Pandeya">Nirmala Pandeya</name>
<name sortKey="Sculley, Tom" sort="Sculley, Tom" uniqKey="Sculley T" first="Tom" last="Sculley">Tom Sculley</name>
<name sortKey="Southey, Melissa" sort="Southey, Melissa" uniqKey="Southey M" first="Melissa" last="Southey">Melissa Southey</name>
<name sortKey="Sprung, Carl N" sort="Sprung, Carl N" uniqKey="Sprung C" first="Carl N." last="Sprung">Carl N. Sprung</name>
<name sortKey="Spurdle, Amanda B" sort="Spurdle, Amanda B" uniqKey="Spurdle A" first="Amanda B." last="Spurdle">Amanda B. Spurdle</name>
</country>
<country name="France"><region name="Auvergne-Rhône-Alpes"><name sortKey="Southey, Melissa" sort="Southey, Melissa" uniqKey="Southey M" first="Melissa" last="Southey">Melissa Southey</name>
</region>
</country>
</tree>
</affiliations>
</record>

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Prediction of BRCA1 and BRCA2 mutation status using post-irradiation assays of lymphoblastoid cell lines is compromised by inter-cell-line phenotypic variability

Prediction of BRCA1 and BRCA2 mutation status using post-irradiation assays of lymphoblastoid cell lines is compromised by inter-cell-line phenotypic variability

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