BRCA1 allele-specific expression in genetic predisposed breast/ovarian cancer.
Identifieur interne : 000003 ( PubMed/Curation ); précédent : 000002; suivant : 000004BRCA1 allele-specific expression in genetic predisposed breast/ovarian cancer.
Auteurs : Estelle Jamard [France] ; Bertrand Volard [France] ; Audrey Emmanuelle Dugué [France] ; Angelina Legros [France] ; Alexandra Leconte [France] ; Bénédicte Clarisse [France] ; Grégoire Davy [France] ; Florence Polycarpe [France] ; Catherine Dugast [France] ; Caroline Abadie [France] ; Thierry Frebourg [France] ; Julie Tinat [France] ; Isabelle Tennevet [France] ; Valérie Layet [France] ; Florence Joly [France] ; Laurent Castéra [France] ; Pascaline Berthet [France] ; Dominique Vaur [France] ; Sophie Krieger [France]Source :
- Familial cancer [ 1573-7292 ] ; 2016.
Abstract
Germline allele specific expression (ASE), resulting in a lowered expression of one of the BRCA1 alleles, has been described as a possible predisposition marker in Hereditary Breast or Ovarian Cancer (HBOC), usable for molecular diagnosis in HBOC. The main objective of this prospective case-control study was to compare the proportion of ASE between controls without familial history of breast or ovarian cancer, and HBOC cases without BRCA1 or BRCA2 deleterious mutation. BRCA1 ASE evaluated on three SNPs among controls and HBOC patients without deleterious mutation were assessed by pyrosequencing. The allelic ratios and the proportion of ASE were compared between controls and cases using a Student's t test and a Fisher exact test, respectively. The linearity and reproducibility of the ASE dosage was demonstrated with R(2) > 0.99 and a coefficient of variation below 10 %, and ASE was detected in two positive controls harbouring BRCA1 truncated mutations. In the heterozygote population, composed of 99/264 controls (37.5 %) and 96/227 patients (42.3 %), we detected a 5 % ASE without truncated mutations, in each population. We failed to detect any significant difference of ASE between controls and patients. So far, BRCA1 Allelic specific expression is not usable in routine diagnosis as a possible predisposition marker in HBOC patients except for the detection of truncated mutations.
DOI: 10.1007/s10689-016-9940-2
PubMed: 27783335
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Centre Normand de Génomique Médicale et Médecine Personnalisée, Centre François Baclesse, 3 avenue du général Harris, 14076, Caen Cedex 05, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Biologie et Génétique du Cancer - Centre Normand de Génomique Médicale et Médecine Personnalisée, Centre François Baclesse, 3 avenue du général Harris, 14076, Caen Cedex 05</wicri:regionArea></affiliation></author><author><name sortKey="Dugue, Audrey Emmanuelle" sort="Dugue, Audrey Emmanuelle" uniqKey="Dugue A" first="Audrey Emmanuelle" last="Dugué">Audrey Emmanuelle Dugué</name><affiliation wicri:level="1"><nlm:affiliation>Service de recherche clinique, Centre François Baclesse, Caen, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de recherche clinique, Centre François Baclesse, Caen</wicri:regionArea></affiliation></author><author><name sortKey="Legros, Angelina" sort="Legros, Angelina" uniqKey="Legros A" first="Angelina" last="Legros">Angelina Legros</name><affiliation wicri:level="1"><nlm:affiliation>Laboratoire de Biologie et Génétique du Cancer - Centre Normand de Génomique Médicale et Médecine Personnalisée, Centre François Baclesse, 3 avenue du général Harris, 14076, Caen Cedex 05, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Biologie et Génétique du Cancer - Centre Normand de Génomique Médicale et Médecine Personnalisée, Centre François Baclesse, 3 avenue du général Harris, 14076, Caen Cedex 05</wicri:regionArea></affiliation></author><author><name sortKey="Leconte, Alexandra" sort="Leconte, Alexandra" uniqKey="Leconte A" first="Alexandra" last="Leconte">Alexandra Leconte</name><affiliation wicri:level="1"><nlm:affiliation>Service de recherche clinique, Centre François Baclesse, Caen, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de recherche clinique, Centre François Baclesse, Caen</wicri:regionArea></affiliation></author><author><name sortKey="Clarisse, Benedicte" sort="Clarisse, Benedicte" uniqKey="Clarisse B" first="Bénédicte" last="Clarisse">Bénédicte Clarisse</name><affiliation wicri:level="1"><nlm:affiliation>Service de recherche clinique, Centre François Baclesse, Caen, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de recherche clinique, Centre François Baclesse, Caen</wicri:regionArea></affiliation></author><author><name sortKey="Davy, Gregoire" sort="Davy, Gregoire" uniqKey="Davy G" first="Grégoire" last="Davy">Grégoire Davy</name><affiliation wicri:level="1"><nlm:affiliation>Laboratoire de Biologie et Génétique du Cancer - Centre Normand de Génomique Médicale et Médecine Personnalisée, Centre François Baclesse, 3 avenue du général Harris, 14076, Caen Cedex 05, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Biologie et Génétique du Cancer - Centre Normand de Génomique Médicale et Médecine Personnalisée, Centre François Baclesse, 3 avenue du général Harris, 14076, Caen Cedex 05</wicri:regionArea></affiliation></author><author><name sortKey="Polycarpe, Florence" sort="Polycarpe, Florence" uniqKey="Polycarpe F" first="Florence" last="Polycarpe">Florence Polycarpe</name><affiliation wicri:level="1"><nlm:affiliation>Consultation d'oncogénétique, Centre François Baclesse, Caen, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Consultation d'oncogénétique, Centre François Baclesse, Caen</wicri:regionArea></affiliation></author><author><name sortKey="Dugast, Catherine" sort="Dugast, Catherine" uniqKey="Dugast C" first="Catherine" last="Dugast">Catherine Dugast</name><affiliation wicri:level="1"><nlm:affiliation>Consultation d'oncogénétique, CHU, Rennes, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Consultation d'oncogénétique, CHU, Rennes</wicri:regionArea></affiliation></author><author><name sortKey="Abadie, Caroline" sort="Abadie, Caroline" uniqKey="Abadie C" first="Caroline" last="Abadie">Caroline Abadie</name><affiliation wicri:level="1"><nlm:affiliation>Consultation d'oncogénétique, CHU, Rennes, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Consultation d'oncogénétique, CHU, Rennes</wicri:regionArea></affiliation></author><author><name sortKey="Frebourg, Thierry" sort="Frebourg, Thierry" uniqKey="Frebourg T" first="Thierry" last="Frebourg">Thierry Frebourg</name><affiliation wicri:level="1"><nlm:affiliation>Inserm U1079, Université de Médecine Pharmacie, Rouen, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Inserm U1079, Université de Médecine Pharmacie, Rouen</wicri:regionArea></affiliation></author><author><name sortKey="Tinat, Julie" sort="Tinat, Julie" uniqKey="Tinat J" first="Julie" last="Tinat">Julie Tinat</name><affiliation wicri:level="1"><nlm:affiliation>Inserm U1079, Université de Médecine Pharmacie, Rouen, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Inserm U1079, Université de Médecine Pharmacie, Rouen</wicri:regionArea></affiliation></author><author><name sortKey="Tennevet, Isabelle" sort="Tennevet, Isabelle" uniqKey="Tennevet I" first="Isabelle" last="Tennevet">Isabelle Tennevet</name><affiliation wicri:level="1"><nlm:affiliation>Consultation d'oncogénétique, Centre Henri Becquerel, Rouen, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Consultation d'oncogénétique, Centre Henri Becquerel, Rouen</wicri:regionArea></affiliation></author><author><name sortKey="Layet, Valerie" sort="Layet, Valerie" uniqKey="Layet V" first="Valérie" last="Layet">Valérie Layet</name><affiliation wicri:level="1"><nlm:affiliation>Consultation d'oncogénétique, Centre Hospitalier, Le Havre, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Consultation d'oncogénétique, Centre Hospitalier, Le Havre</wicri:regionArea></affiliation></author><author><name sortKey="Joly, Florence" sort="Joly, Florence" uniqKey="Joly F" first="Florence" last="Joly">Florence Joly</name><affiliation wicri:level="1"><nlm:affiliation>Service de recherche clinique, Centre François Baclesse, Caen, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de recherche clinique, Centre François Baclesse, Caen</wicri:regionArea></affiliation></author><author><name sortKey="Castera, Laurent" sort="Castera, Laurent" uniqKey="Castera L" first="Laurent" last="Castéra">Laurent Castéra</name><affiliation wicri:level="1"><nlm:affiliation>Laboratoire de Biologie et Génétique du Cancer - Centre Normand de Génomique Médicale et Médecine Personnalisée, Centre François Baclesse, 3 avenue du général Harris, 14076, Caen Cedex 05, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Biologie et Génétique du Cancer - Centre Normand de Génomique Médicale et Médecine Personnalisée, Centre François Baclesse, 3 avenue du général Harris, 14076, Caen Cedex 05</wicri:regionArea></affiliation></author><author><name sortKey="Berthet, Pascaline" sort="Berthet, Pascaline" uniqKey="Berthet P" first="Pascaline" last="Berthet">Pascaline Berthet</name><affiliation wicri:level="1"><nlm:affiliation>Inserm U1079, Université de Médecine Pharmacie, Rouen, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Inserm U1079, Université de Médecine Pharmacie, Rouen</wicri:regionArea></affiliation></author><author><name sortKey="Vaur, Dominique" sort="Vaur, Dominique" uniqKey="Vaur D" first="Dominique" last="Vaur">Dominique Vaur</name><affiliation wicri:level="1"><nlm:affiliation>Laboratoire de Biologie et Génétique du Cancer - Centre Normand de Génomique Médicale et Médecine Personnalisée, Centre François Baclesse, 3 avenue du général Harris, 14076, Caen Cedex 05, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Biologie et Génétique du Cancer - Centre Normand de Génomique Médicale et Médecine Personnalisée, Centre François Baclesse, 3 avenue du général Harris, 14076, Caen Cedex 05</wicri:regionArea></affiliation></author><author><name sortKey="Krieger, Sophie" sort="Krieger, Sophie" uniqKey="Krieger S" first="Sophie" last="Krieger">Sophie Krieger</name><affiliation wicri:level="1"><nlm:affiliation>Laboratoire de Biologie et Génétique du Cancer - Centre Normand de Génomique Médicale et Médecine Personnalisée, Centre François Baclesse, 3 avenue du général Harris, 14076, Caen Cedex 05, France. s.krieger@baclesse.fr.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Biologie et Génétique du Cancer - Centre Normand de Génomique Médicale et Médecine Personnalisée, Centre François Baclesse, 3 avenue du général Harris, 14076, Caen Cedex 05</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2016">2016</date><idno type="RBID">pubmed:27783335</idno><idno type="pmid">27783335</idno><idno type="doi">10.1007/s10689-016-9940-2</idno><idno type="wicri:Area/PubMed/Corpus">000003</idno><idno type="wicri:Area/PubMed/Curation">000003</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">BRCA1 allele-specific expression in genetic predisposed breast/ovarian cancer.</title><author><name sortKey="Jamard, Estelle" sort="Jamard, Estelle" uniqKey="Jamard E" first="Estelle" last="Jamard">Estelle Jamard</name><affiliation wicri:level="1"><nlm:affiliation>Laboratoire de Biologie et Génétique du Cancer - Centre Normand de Génomique Médicale et Médecine Personnalisée, Centre François Baclesse, 3 avenue du général Harris, 14076, Caen Cedex 05, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Biologie et Génétique du Cancer - Centre Normand de Génomique Médicale et Médecine Personnalisée, Centre François Baclesse, 3 avenue du général Harris, 14076, Caen Cedex 05</wicri:regionArea></affiliation></author><author><name sortKey="Volard, Bertrand" sort="Volard, Bertrand" uniqKey="Volard B" first="Bertrand" last="Volard">Bertrand Volard</name><affiliation wicri:level="1"><nlm:affiliation>Laboratoire de Biologie et Génétique du Cancer - Centre Normand de Génomique Médicale et Médecine Personnalisée, Centre François Baclesse, 3 avenue du général Harris, 14076, Caen Cedex 05, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Biologie et Génétique du Cancer - Centre Normand de Génomique Médicale et Médecine Personnalisée, Centre François Baclesse, 3 avenue du général Harris, 14076, Caen Cedex 05</wicri:regionArea></affiliation></author><author><name sortKey="Dugue, Audrey Emmanuelle" sort="Dugue, Audrey Emmanuelle" uniqKey="Dugue A" first="Audrey Emmanuelle" last="Dugué">Audrey Emmanuelle Dugué</name><affiliation wicri:level="1"><nlm:affiliation>Service de recherche clinique, Centre François Baclesse, Caen, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de recherche clinique, Centre François Baclesse, Caen</wicri:regionArea></affiliation></author><author><name sortKey="Legros, Angelina" sort="Legros, Angelina" uniqKey="Legros A" first="Angelina" last="Legros">Angelina Legros</name><affiliation wicri:level="1"><nlm:affiliation>Laboratoire de Biologie et Génétique du Cancer - Centre Normand de Génomique Médicale et Médecine Personnalisée, Centre François Baclesse, 3 avenue du général Harris, 14076, Caen Cedex 05, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Biologie et Génétique du Cancer - Centre Normand de Génomique Médicale et Médecine Personnalisée, Centre François Baclesse, 3 avenue du général Harris, 14076, Caen Cedex 05</wicri:regionArea></affiliation></author><author><name sortKey="Leconte, Alexandra" sort="Leconte, Alexandra" uniqKey="Leconte A" first="Alexandra" last="Leconte">Alexandra Leconte</name><affiliation wicri:level="1"><nlm:affiliation>Service de recherche clinique, Centre François Baclesse, Caen, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de recherche clinique, Centre François Baclesse, Caen</wicri:regionArea></affiliation></author><author><name sortKey="Clarisse, Benedicte" sort="Clarisse, Benedicte" uniqKey="Clarisse B" first="Bénédicte" last="Clarisse">Bénédicte Clarisse</name><affiliation wicri:level="1"><nlm:affiliation>Service de recherche clinique, Centre François Baclesse, Caen, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de recherche clinique, Centre François Baclesse, Caen</wicri:regionArea></affiliation></author><author><name sortKey="Davy, Gregoire" sort="Davy, Gregoire" uniqKey="Davy G" first="Grégoire" last="Davy">Grégoire Davy</name><affiliation wicri:level="1"><nlm:affiliation>Laboratoire de Biologie et Génétique du Cancer - Centre Normand de Génomique Médicale et Médecine Personnalisée, Centre François Baclesse, 3 avenue du général Harris, 14076, Caen Cedex 05, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Biologie et Génétique du Cancer - Centre Normand de Génomique Médicale et Médecine Personnalisée, Centre François Baclesse, 3 avenue du général Harris, 14076, Caen Cedex 05</wicri:regionArea></affiliation></author><author><name sortKey="Polycarpe, Florence" sort="Polycarpe, Florence" uniqKey="Polycarpe F" first="Florence" last="Polycarpe">Florence Polycarpe</name><affiliation wicri:level="1"><nlm:affiliation>Consultation d'oncogénétique, Centre François Baclesse, Caen, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Consultation d'oncogénétique, Centre François Baclesse, Caen</wicri:regionArea></affiliation></author><author><name sortKey="Dugast, Catherine" sort="Dugast, Catherine" uniqKey="Dugast C" first="Catherine" last="Dugast">Catherine Dugast</name><affiliation wicri:level="1"><nlm:affiliation>Consultation d'oncogénétique, CHU, Rennes, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Consultation d'oncogénétique, CHU, Rennes</wicri:regionArea></affiliation></author><author><name sortKey="Abadie, Caroline" sort="Abadie, Caroline" uniqKey="Abadie C" first="Caroline" last="Abadie">Caroline Abadie</name><affiliation wicri:level="1"><nlm:affiliation>Consultation d'oncogénétique, CHU, Rennes, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Consultation d'oncogénétique, CHU, Rennes</wicri:regionArea></affiliation></author><author><name sortKey="Frebourg, Thierry" sort="Frebourg, Thierry" uniqKey="Frebourg T" first="Thierry" last="Frebourg">Thierry Frebourg</name><affiliation wicri:level="1"><nlm:affiliation>Inserm U1079, Université de Médecine Pharmacie, Rouen, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Inserm U1079, Université de Médecine Pharmacie, Rouen</wicri:regionArea></affiliation></author><author><name sortKey="Tinat, Julie" sort="Tinat, Julie" uniqKey="Tinat J" first="Julie" last="Tinat">Julie Tinat</name><affiliation wicri:level="1"><nlm:affiliation>Inserm U1079, Université de Médecine Pharmacie, Rouen, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Inserm U1079, Université de Médecine Pharmacie, Rouen</wicri:regionArea></affiliation></author><author><name sortKey="Tennevet, Isabelle" sort="Tennevet, Isabelle" uniqKey="Tennevet I" first="Isabelle" last="Tennevet">Isabelle Tennevet</name><affiliation wicri:level="1"><nlm:affiliation>Consultation d'oncogénétique, Centre Henri Becquerel, Rouen, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Consultation d'oncogénétique, Centre Henri Becquerel, Rouen</wicri:regionArea></affiliation></author><author><name sortKey="Layet, Valerie" sort="Layet, Valerie" uniqKey="Layet V" first="Valérie" last="Layet">Valérie Layet</name><affiliation wicri:level="1"><nlm:affiliation>Consultation d'oncogénétique, Centre Hospitalier, Le Havre, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Consultation d'oncogénétique, Centre Hospitalier, Le Havre</wicri:regionArea></affiliation></author><author><name sortKey="Joly, Florence" sort="Joly, Florence" uniqKey="Joly F" first="Florence" last="Joly">Florence Joly</name><affiliation wicri:level="1"><nlm:affiliation>Service de recherche clinique, Centre François Baclesse, Caen, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de recherche clinique, Centre François Baclesse, Caen</wicri:regionArea></affiliation></author><author><name sortKey="Castera, Laurent" sort="Castera, Laurent" uniqKey="Castera L" first="Laurent" last="Castéra">Laurent Castéra</name><affiliation wicri:level="1"><nlm:affiliation>Laboratoire de Biologie et Génétique du Cancer - Centre Normand de Génomique Médicale et Médecine Personnalisée, Centre François Baclesse, 3 avenue du général Harris, 14076, Caen Cedex 05, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Biologie et Génétique du Cancer - Centre Normand de Génomique Médicale et Médecine Personnalisée, Centre François Baclesse, 3 avenue du général Harris, 14076, Caen Cedex 05</wicri:regionArea></affiliation></author><author><name sortKey="Berthet, Pascaline" sort="Berthet, Pascaline" uniqKey="Berthet P" first="Pascaline" last="Berthet">Pascaline Berthet</name><affiliation wicri:level="1"><nlm:affiliation>Inserm U1079, Université de Médecine Pharmacie, Rouen, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Inserm U1079, Université de Médecine Pharmacie, Rouen</wicri:regionArea></affiliation></author><author><name sortKey="Vaur, Dominique" sort="Vaur, Dominique" uniqKey="Vaur D" first="Dominique" last="Vaur">Dominique Vaur</name><affiliation wicri:level="1"><nlm:affiliation>Laboratoire de Biologie et Génétique du Cancer - Centre Normand de Génomique Médicale et Médecine Personnalisée, Centre François Baclesse, 3 avenue du général Harris, 14076, Caen Cedex 05, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Biologie et Génétique du Cancer - Centre Normand de Génomique Médicale et Médecine Personnalisée, Centre François Baclesse, 3 avenue du général Harris, 14076, Caen Cedex 05</wicri:regionArea></affiliation></author><author><name sortKey="Krieger, Sophie" sort="Krieger, Sophie" uniqKey="Krieger S" first="Sophie" last="Krieger">Sophie Krieger</name><affiliation wicri:level="1"><nlm:affiliation>Laboratoire de Biologie et Génétique du Cancer - Centre Normand de Génomique Médicale et Médecine Personnalisée, Centre François Baclesse, 3 avenue du général Harris, 14076, Caen Cedex 05, France. s.krieger@baclesse.fr.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Biologie et Génétique du Cancer - Centre Normand de Génomique Médicale et Médecine Personnalisée, Centre François Baclesse, 3 avenue du général Harris, 14076, Caen Cedex 05</wicri:regionArea></affiliation></author></analytic><series><title level="j">Familial cancer</title><idno type="eISSN">1573-7292</idno><imprint><date when="2016" type="published">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Germline allele specific expression (ASE), resulting in a lowered expression of one of the BRCA1 alleles, has been described as a possible predisposition marker in Hereditary Breast or Ovarian Cancer (HBOC), usable for molecular diagnosis in HBOC. The main objective of this prospective case-control study was to compare the proportion of ASE between controls without familial history of breast or ovarian cancer, and HBOC cases without BRCA1 or BRCA2 deleterious mutation. BRCA1 ASE evaluated on three SNPs among controls and HBOC patients without deleterious mutation were assessed by pyrosequencing. The allelic ratios and the proportion of ASE were compared between controls and cases using a Student's t test and a Fisher exact test, respectively. The linearity and reproducibility of the ASE dosage was demonstrated with R(2) > 0.99 and a coefficient of variation below 10 %, and ASE was detected in two positive controls harbouring BRCA1 truncated mutations. In the heterozygote population, composed of 99/264 controls (37.5 %) and 96/227 patients (42.3 %), we detected a 5 % ASE without truncated mutations, in each population. We failed to detect any significant difference of ASE between controls and patients. So far, BRCA1 Allelic specific expression is not usable in routine diagnosis as a possible predisposition marker in HBOC patients except for the detection of truncated mutations.</div></front></TEI><pubmed><MedlineCitation Status="Publisher" Owner="NLM"><PMID Version="1">27783335</PMID><DateCreated><Year>2016</Year><Month>10</Month><Day>26</Day></DateCreated><DateRevised><Year>2016</Year><Month>10</Month><Day>27</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1573-7292</ISSN><JournalIssue CitedMedium="Internet"><PubDate><Year>2016</Year><Month>Oct</Month><Day>25</Day></PubDate></JournalIssue><Title>Familial cancer</Title><ISOAbbreviation>Fam. Cancer</ISOAbbreviation></Journal><ArticleTitle>BRCA1 allele-specific expression in genetic predisposed breast/ovarian cancer.</ArticleTitle><Pagination><MedlinePgn></MedlinePgn></Pagination><Abstract><AbstractText NlmCategory="UNASSIGNED">Germline allele specific expression (ASE), resulting in a lowered expression of one of the BRCA1 alleles, has been described as a possible predisposition marker in Hereditary Breast or Ovarian Cancer (HBOC), usable for molecular diagnosis in HBOC. The main objective of this prospective case-control study was to compare the proportion of ASE between controls without familial history of breast or ovarian cancer, and HBOC cases without BRCA1 or BRCA2 deleterious mutation. BRCA1 ASE evaluated on three SNPs among controls and HBOC patients without deleterious mutation were assessed by pyrosequencing. The allelic ratios and the proportion of ASE were compared between controls and cases using a Student's t test and a Fisher exact test, respectively. The linearity and reproducibility of the ASE dosage was demonstrated with R(2) > 0.99 and a coefficient of variation below 10 %, and ASE was detected in two positive controls harbouring BRCA1 truncated mutations. In the heterozygote population, composed of 99/264 controls (37.5 %) and 96/227 patients (42.3 %), we detected a 5 % ASE without truncated mutations, in each population. We failed to detect any significant difference of ASE between controls and patients. So far, BRCA1 Allelic specific expression is not usable in routine diagnosis as a possible predisposition marker in HBOC patients except for the detection of truncated mutations.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Jamard</LastName><ForeName>Estelle</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Laboratoire de Biologie et Génétique du Cancer - Centre Normand de Génomique Médicale et Médecine Personnalisée, Centre François Baclesse, 3 avenue du général Harris, 14076, Caen Cedex 05, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Volard</LastName><ForeName>Bertrand</ForeName><Initials>B</Initials><AffiliationInfo><Affiliation>Laboratoire de Biologie et Génétique du Cancer - Centre Normand de Génomique Médicale et Médecine Personnalisée, Centre François Baclesse, 3 avenue du général Harris, 14076, Caen Cedex 05, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Dugué</LastName><ForeName>Audrey Emmanuelle</ForeName><Initials>AE</Initials><AffiliationInfo><Affiliation>Service de recherche clinique, Centre François Baclesse, Caen, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Legros</LastName><ForeName>Angelina</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Laboratoire de Biologie et Génétique du Cancer - Centre Normand de Génomique Médicale et Médecine Personnalisée, Centre François Baclesse, 3 avenue du général Harris, 14076, Caen Cedex 05, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Leconte</LastName><ForeName>Alexandra</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Service de recherche clinique, Centre François Baclesse, Caen, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Clarisse</LastName><ForeName>Bénédicte</ForeName><Initials>B</Initials><AffiliationInfo><Affiliation>Service de recherche clinique, Centre François Baclesse, Caen, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Davy</LastName><ForeName>Grégoire</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>Laboratoire de Biologie et Génétique du Cancer - Centre Normand de Génomique Médicale et Médecine Personnalisée, Centre François Baclesse, 3 avenue du général Harris, 14076, Caen Cedex 05, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Polycarpe</LastName><ForeName>Florence</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>Consultation d'oncogénétique, Centre François Baclesse, Caen, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Dugast</LastName><ForeName>Catherine</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Consultation d'oncogénétique, CHU, Rennes, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Consultation d'oncogénétique, Centre Eugène Marquis, Rennes, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Abadie</LastName><ForeName>Caroline</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Consultation d'oncogénétique, CHU, Rennes, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Consultation d'oncogénétique, Centre Eugène Marquis, Rennes, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Frebourg</LastName><ForeName>Thierry</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>Inserm U1079, Université de Médecine Pharmacie, Rouen, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Consultation d'oncogénétique, CHU, Rouen, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Tinat</LastName><ForeName>Julie</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Inserm U1079, Université de Médecine Pharmacie, Rouen, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Consultation d'oncogénétique, CHU, Rouen, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Tennevet</LastName><ForeName>Isabelle</ForeName><Initials>I</Initials><AffiliationInfo><Affiliation>Consultation d'oncogénétique, Centre Henri Becquerel, Rouen, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Layet</LastName><ForeName>Valérie</ForeName><Initials>V</Initials><AffiliationInfo><Affiliation>Consultation d'oncogénétique, Centre Hospitalier, Le Havre, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Joly</LastName><ForeName>Florence</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>Service de recherche clinique, Centre François Baclesse, Caen, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Université de Caen-Normandie -UMR-S1077, Caen, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Inserm- U1086, Caen, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department of Oncology, CHU de Caen, Caen, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Castéra</LastName><ForeName>Laurent</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>Laboratoire de Biologie et Génétique du Cancer - Centre Normand de Génomique Médicale et Médecine Personnalisée, Centre François Baclesse, 3 avenue du général Harris, 14076, Caen Cedex 05, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Inserm U1079, Université de Médecine Pharmacie, Rouen, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Berthet</LastName><ForeName>Pascaline</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Inserm U1079, Université de Médecine Pharmacie, Rouen, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Consultation d'oncogénétique, Centre François Baclesse, Caen, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Vaur</LastName><ForeName>Dominique</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Laboratoire de Biologie et Génétique du Cancer - Centre Normand de Génomique Médicale et Médecine Personnalisée, Centre François Baclesse, 3 avenue du général Harris, 14076, Caen Cedex 05, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Inserm U1079, Université de Médecine Pharmacie, Rouen, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Krieger</LastName><ForeName>Sophie</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Laboratoire de Biologie et Génétique du Cancer - Centre Normand de Génomique Médicale et Médecine Personnalisée, Centre François Baclesse, 3 avenue du général Harris, 14076, Caen Cedex 05, France. s.krieger@baclesse.fr.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Inserm U1079, Université de Médecine Pharmacie, Rouen, France. s.krieger@baclesse.fr.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>UFR de Pharmacie, Université de Caen-Normandie, Caen, France. s.krieger@baclesse.fr.</Affiliation></AffiliationInfo></Author></AuthorList><Language>ENG</Language><PublicationTypeList><PublicationType UI="">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2016</Year><Month>Oct</Month><Day>25</Day></ArticleDate></Article><MedlineJournalInfo><Country>Netherlands</Country><MedlineTA>Fam Cancer</MedlineTA><NlmUniqueID>100898211</NlmUniqueID><ISSNLinking>1389-9600</ISSNLinking></MedlineJournalInfo><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">Allele specific expression</Keyword><Keyword MajorTopicYN="N">BRCA1</Keyword><Keyword MajorTopicYN="N">Breast</Keyword><Keyword MajorTopicYN="N">Cancer</Keyword><Keyword MajorTopicYN="N">Ovarian</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2016</Year><Month>10</Month><Day>27</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2016</Year><Month>10</Month><Day>27</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2016</Year><Month>10</Month><Day>27</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>aheadofprint</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">27783335</ArticleId><ArticleId IdType="doi">10.1007/s10689-016-9940-2</ArticleId><ArticleId IdType="pii">10.1007/s10689-016-9940-2</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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