Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.
Identifieur interne : 000115 ( PubMed/Curation ); précédent : 000114; suivant : 000116Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.
Auteurs : Laurent Castéra [France] ; Sophie Krieger [France] ; Antoine Rousselin [France] ; Angélina Legros [France] ; Jean-Jacques Baumann [France] ; Olivia Bruet [France] ; Baptiste Brault [France] ; Robin Fouillet [France] ; Nicolas Goardon [France] ; Olivier Letac [France] ; Stéphanie Baert-Desurmont [France] ; Julie Tinat [France] ; Odile Bera [France] ; Catherine Dugast [France] ; Pascaline Berthet [France] ; Florence Polycarpe [France] ; Valérie Layet [France] ; Agnes Hardouin [France] ; Thierry Frébourg [France] ; Dominique Vaur [France]Source :
- European journal of human genetics : EJHG [ 1476-5438 ] ; 2014.
English descriptors
- KwdEn :
- Adult, Aged, BRCA1 Protein (genetics), BRCA1 Protein (metabolism), BRCA2 Protein (genetics), BRCA2 Protein (metabolism), Breast Neoplasms (diagnosis), Breast Neoplasms (genetics), Breast Neoplasms, Male (diagnosis), Breast Neoplasms, Male (genetics), Case-Control Studies, Computational Biology, Female, Gene Rearrangement, Genetic Predisposition to Disease, Genetic Testing, Genomics (methods), High-Throughput Nucleotide Sequencing (methods), Humans, Male, Middle Aged, Mutation, Ovarian Neoplasms (diagnosis), Ovarian Neoplasms (genetics), Reproducibility of Results, Tumor Suppressor Protein p53 (genetics), Tumor Suppressor Protein p53 (metabolism).
- MESH :
- chemical , genetics : BRCA1 Protein, BRCA2 Protein, Tumor Suppressor Protein p53.
- chemical , metabolism : BRCA1 Protein, BRCA2 Protein, Tumor Suppressor Protein p53.
- diagnosis : Breast Neoplasms, Breast Neoplasms, Male, Ovarian Neoplasms.
- genetics : Breast Neoplasms, Breast Neoplasms, Male, Ovarian Neoplasms.
- methods : Genomics, High-Throughput Nucleotide Sequencing.
- Adult, Aged, Case-Control Studies, Computational Biology, Female, Gene Rearrangement, Genetic Predisposition to Disease, Genetic Testing, Humans, Male, Middle Aged, Mutation, Reproducibility of Results.
Abstract
To optimize the molecular diagnosis of hereditary breast and ovarian cancer (HBOC), we developed a next-generation sequencing (NGS)-based screening based on the capture of a panel of genes involved, or suspected to be involved in HBOC, on pooling of indexed DNA and on paired-end sequencing in an Illumina GAIIx platform, followed by confirmation by Sanger sequencing or MLPA/QMPSF. The bioinformatic pipeline included CASAVA, NextGENe, CNVseq and Alamut-HT. We validated this procedure by the analysis of 59 patients' DNAs harbouring SNVs, indels or large genomic rearrangements of BRCA1 or BRCA2. We also conducted a blind study in 168 patients comparing NGS versus Sanger sequencing or MLPA analyses of BRCA1 and BRCA2. All mutations detected by conventional procedures were detected by NGS. We then screened, using three different versions of the capture set, a large series of 708 consecutive patients. We detected in these patients 69 germline deleterious alterations within BRCA1 and BRCA2, and 4 TP53 mutations in 468 patients also tested for this gene. We also found 36 variations inducing either a premature codon stop or a splicing defect among other genes: 5/708 in CHEK2, 3/708 in RAD51C, 1/708 in RAD50, 7/708 in PALB2, 3/708 in MRE11A, 5/708 in ATM, 3/708 in NBS1, 1/708 in CDH1, 3/468 in MSH2, 2/468 in PMS2, 1/708 in BARD1, 1/468 in PMS1 and 1/468 in MLH3. These results demonstrate the efficiency of NGS in performing molecular diagnosis of HBOC. Detection of mutations within other genes than BRCA1 and BRCA2 highlights the genetic heterogeneity of HBOC.
DOI: 10.1038/ejhg.2014.16
PubMed: 24549055
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Rouen</wicri:regionArea></affiliation></author><author><name sortKey="Bera, Odile" sort="Bera, Odile" uniqKey="Bera O" first="Odile" last="Bera">Odile Bera</name><affiliation wicri:level="1"><nlm:affiliation>Department of Genetics, University Hospital, Fort-de-France, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Genetics, University Hospital, Fort-de-France</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>Department of Genetics, University Hospital, Rennes, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Genetics, University Hospital, Rennes</wicri:regionArea></affiliation></author><author><name sortKey="Berthet, Pascaline" sort="Berthet, Pascaline" uniqKey="Berthet P" first="Pascaline" last="Berthet">Pascaline 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xml:lang="fr">France</country><wicri:regionArea>Department of Genetics, Jacques Monod Hospital, Le Havre</wicri:regionArea></affiliation></author><author><name sortKey="Hardouin, Agnes" sort="Hardouin, Agnes" uniqKey="Hardouin A" first="Agnes" last="Hardouin">Agnes Hardouin</name><affiliation wicri:level="1"><nlm:affiliation>1] Department of Cancer Biology and Genetics, CLCC François Baclesse, Caen, France [2] Inserm U1079, Rouen, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>1] Department of Cancer Biology and Genetics, CLCC François Baclesse, Caen, France [2] Inserm U1079, Rouen</wicri:regionArea></affiliation></author><author><name sortKey="Frebourg, Thierry" sort="Frebourg, Thierry" uniqKey="Frebourg T" first="Thierry" last="Frébourg">Thierry Frébourg</name><affiliation wicri:level="1"><nlm:affiliation>1] Inserm U1079, Rouen, France [2] Department of Genetics, University Hospital, Rouen, France [3] Rouen University, IRIB, Rouen, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>1] Inserm U1079, Rouen, France [2] Department of Genetics, University Hospital, Rouen, France [3] Rouen University, IRIB, 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>1] Department of Cancer Biology and Genetics, CLCC François Baclesse, Caen, France [2] Inserm U1079, Rouen, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>1] Department of Cancer Biology and Genetics, CLCC François Baclesse, Caen, France [2] Inserm U1079, Rouen</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2014">2014</date><idno type="RBID">pubmed:24549055</idno><idno type="pmid">24549055</idno><idno type="doi">10.1038/ejhg.2014.16</idno><idno type="wicri:Area/PubMed/Corpus">000115</idno><idno type="wicri:Area/PubMed/Curation">000115</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.</title><author><name sortKey="Castera, Laurent" sort="Castera, Laurent" uniqKey="Castera L" first="Laurent" last="Castéra">Laurent Castéra</name><affiliation wicri:level="1"><nlm:affiliation>1] Department of Cancer Biology and Genetics, CLCC François Baclesse, Caen, France [2] Inserm U1079, Rouen, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>1] Department of Cancer Biology and Genetics, CLCC François Baclesse, Caen, France [2] Inserm U1079, Rouen</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>1] Department of Cancer Biology and Genetics, CLCC François Baclesse, Caen, France [2] Inserm U1079, Rouen, France [3] Department of Biochemistry and Toxicology, Caen University, Caen, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>1] Department of Cancer Biology and Genetics, CLCC François Baclesse, Caen, France [2] Inserm U1079, Rouen, France [3] Department of Biochemistry and Toxicology, Caen University, Caen</wicri:regionArea></affiliation></author><author><name sortKey="Rousselin, Antoine" sort="Rousselin, Antoine" uniqKey="Rousselin A" first="Antoine" last="Rousselin">Antoine Rousselin</name><affiliation wicri:level="1"><nlm:affiliation>Department of Cancer Biology and Genetics, CLCC François Baclesse, Caen, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Cancer Biology and Genetics, CLCC François Baclesse, Caen</wicri:regionArea></affiliation></author><author><name sortKey="Legros, Angelina" sort="Legros, Angelina" uniqKey="Legros A" first="Angélina" last="Legros">Angélina Legros</name><affiliation wicri:level="1"><nlm:affiliation>Department of Cancer Biology and Genetics, CLCC François Baclesse, Caen, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Cancer Biology and Genetics, CLCC François Baclesse, Caen</wicri:regionArea></affiliation></author><author><name sortKey="Baumann, Jean Jacques" sort="Baumann, Jean Jacques" uniqKey="Baumann J" first="Jean-Jacques" last="Baumann">Jean-Jacques Baumann</name><affiliation wicri:level="1"><nlm:affiliation>Department of Cancer Biology and Genetics, CLCC François Baclesse, Caen, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Cancer Biology and Genetics, CLCC François Baclesse, Caen</wicri:regionArea></affiliation></author><author><name sortKey="Bruet, Olivia" sort="Bruet, Olivia" uniqKey="Bruet O" first="Olivia" last="Bruet">Olivia Bruet</name><affiliation wicri:level="1"><nlm:affiliation>Department of Cancer Biology and Genetics, CLCC François Baclesse, Caen, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Cancer Biology and Genetics, CLCC François Baclesse, Caen</wicri:regionArea></affiliation></author><author><name sortKey="Brault, Baptiste" sort="Brault, Baptiste" uniqKey="Brault B" first="Baptiste" last="Brault">Baptiste Brault</name><affiliation wicri:level="1"><nlm:affiliation>Department of Cancer Biology and Genetics, CLCC François Baclesse, Caen, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Cancer Biology and Genetics, CLCC François Baclesse, Caen</wicri:regionArea></affiliation></author><author><name sortKey="Fouillet, Robin" sort="Fouillet, Robin" uniqKey="Fouillet R" first="Robin" last="Fouillet">Robin Fouillet</name><affiliation wicri:level="1"><nlm:affiliation>Department of Cancer Biology and Genetics, CLCC François Baclesse, Caen, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Cancer Biology and Genetics, CLCC François Baclesse, Caen</wicri:regionArea></affiliation></author><author><name sortKey="Goardon, Nicolas" sort="Goardon, Nicolas" uniqKey="Goardon N" first="Nicolas" last="Goardon">Nicolas Goardon</name><affiliation wicri:level="1"><nlm:affiliation>Department of Cancer Biology and Genetics, CLCC François Baclesse, Caen, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Cancer Biology and Genetics, CLCC François Baclesse, Caen</wicri:regionArea></affiliation></author><author><name sortKey="Letac, Olivier" sort="Letac, Olivier" uniqKey="Letac O" first="Olivier" last="Letac">Olivier Letac</name><affiliation wicri:level="1"><nlm:affiliation>Department of Cancer Biology and Genetics, CLCC François Baclesse, Caen, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Cancer Biology and Genetics, CLCC François Baclesse, Caen</wicri:regionArea></affiliation></author><author><name sortKey="Baert Desurmont, Stephanie" sort="Baert Desurmont, Stephanie" uniqKey="Baert Desurmont S" first="Stéphanie" last="Baert-Desurmont">Stéphanie Baert-Desurmont</name><affiliation wicri:level="1"><nlm:affiliation>1] Inserm U1079, Rouen, France [2] Department of Genetics, University Hospital, Rouen, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>1] Inserm U1079, Rouen, France [2] Department of Genetics, University Hospital, 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>1] Inserm U1079, Rouen, France [2] Department of Genetics, University Hospital, Rouen, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>1] Inserm U1079, Rouen, France [2] Department of Genetics, University Hospital, Rouen</wicri:regionArea></affiliation></author><author><name sortKey="Bera, Odile" sort="Bera, Odile" uniqKey="Bera O" first="Odile" last="Bera">Odile Bera</name><affiliation wicri:level="1"><nlm:affiliation>Department of Genetics, University Hospital, Fort-de-France, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Genetics, University Hospital, Fort-de-France</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>Department of Genetics, University Hospital, Rennes, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Genetics, University Hospital, Rennes</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>Department of Genetics, CLCC François Baclesse, Caen, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Genetics, CLCC François Baclesse, Caen</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>Department of Genetics, CLCC François Baclesse, Caen, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Genetics, CLCC François Baclesse, Caen</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>Department of Genetics, Jacques Monod Hospital, Le Havre, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Genetics, Jacques Monod Hospital, Le Havre</wicri:regionArea></affiliation></author><author><name sortKey="Hardouin, Agnes" sort="Hardouin, Agnes" uniqKey="Hardouin A" first="Agnes" last="Hardouin">Agnes Hardouin</name><affiliation wicri:level="1"><nlm:affiliation>1] Department of Cancer Biology and Genetics, CLCC François Baclesse, Caen, France [2] Inserm U1079, Rouen, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>1] Department of Cancer Biology and Genetics, CLCC François Baclesse, Caen, France [2] Inserm U1079, Rouen</wicri:regionArea></affiliation></author><author><name sortKey="Frebourg, Thierry" sort="Frebourg, Thierry" uniqKey="Frebourg T" first="Thierry" last="Frébourg">Thierry Frébourg</name><affiliation wicri:level="1"><nlm:affiliation>1] Inserm U1079, Rouen, France [2] Department of Genetics, University Hospital, Rouen, France [3] Rouen University, IRIB, Rouen, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>1] Inserm U1079, Rouen, France [2] Department of Genetics, University Hospital, Rouen, France [3] Rouen University, IRIB, 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>1] Department of Cancer Biology and Genetics, CLCC François Baclesse, Caen, France [2] Inserm U1079, Rouen, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>1] Department of Cancer Biology and Genetics, CLCC François Baclesse, Caen, France [2] Inserm U1079, Rouen</wicri:regionArea></affiliation></author></analytic><series><title level="j">European journal of human genetics : EJHG</title><idno type="eISSN">1476-5438</idno><imprint><date when="2014" type="published">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Aged</term><term>BRCA1 Protein (genetics)</term><term>BRCA1 Protein (metabolism)</term><term>BRCA2 Protein (genetics)</term><term>BRCA2 Protein (metabolism)</term><term>Breast Neoplasms (diagnosis)</term><term>Breast Neoplasms (genetics)</term><term>Breast Neoplasms, Male (diagnosis)</term><term>Breast Neoplasms, Male (genetics)</term><term>Case-Control Studies</term><term>Computational Biology</term><term>Female</term><term>Gene Rearrangement</term><term>Genetic Predisposition to Disease</term><term>Genetic Testing</term><term>Genomics (methods)</term><term>High-Throughput Nucleotide Sequencing (methods)</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation</term><term>Ovarian Neoplasms (diagnosis)</term><term>Ovarian Neoplasms (genetics)</term><term>Reproducibility of Results</term><term>Tumor Suppressor Protein p53 (genetics)</term><term>Tumor Suppressor Protein p53 (metabolism)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>BRCA1 Protein</term><term>BRCA2 Protein</term><term>Tumor Suppressor Protein p53</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>BRCA1 Protein</term><term>BRCA2 Protein</term><term>Tumor Suppressor Protein p53</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Breast Neoplasms</term><term>Breast Neoplasms, Male</term><term>Ovarian Neoplasms</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Breast Neoplasms</term><term>Breast Neoplasms, Male</term><term>Ovarian Neoplasms</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Genomics</term><term>High-Throughput Nucleotide Sequencing</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Aged</term><term>Case-Control Studies</term><term>Computational Biology</term><term>Female</term><term>Gene Rearrangement</term><term>Genetic Predisposition to Disease</term><term>Genetic Testing</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation</term><term>Reproducibility of Results</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">To optimize the molecular diagnosis of hereditary breast and ovarian cancer (HBOC), we developed a next-generation sequencing (NGS)-based screening based on the capture of a panel of genes involved, or suspected to be involved in HBOC, on pooling of indexed DNA and on paired-end sequencing in an Illumina GAIIx platform, followed by confirmation by Sanger sequencing or MLPA/QMPSF. The bioinformatic pipeline included CASAVA, NextGENe, CNVseq and Alamut-HT. We validated this procedure by the analysis of 59 patients' DNAs harbouring SNVs, indels or large genomic rearrangements of BRCA1 or BRCA2. We also conducted a blind study in 168 patients comparing NGS versus Sanger sequencing or MLPA analyses of BRCA1 and BRCA2. All mutations detected by conventional procedures were detected by NGS. We then screened, using three different versions of the capture set, a large series of 708 consecutive patients. We detected in these patients 69 germline deleterious alterations within BRCA1 and BRCA2, and 4 TP53 mutations in 468 patients also tested for this gene. We also found 36 variations inducing either a premature codon stop or a splicing defect among other genes: 5/708 in CHEK2, 3/708 in RAD51C, 1/708 in RAD50, 7/708 in PALB2, 3/708 in MRE11A, 5/708 in ATM, 3/708 in NBS1, 1/708 in CDH1, 3/468 in MSH2, 2/468 in PMS2, 1/708 in BARD1, 1/468 in PMS1 and 1/468 in MLH3. These results demonstrate the efficiency of NGS in performing molecular diagnosis of HBOC. Detection of mutations within other genes than BRCA1 and BRCA2 highlights the genetic heterogeneity of HBOC.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">24549055</PMID><DateCreated><Year>2014</Year><Month>10</Month><Day>16</Day></DateCreated><DateCompleted><Year>2015</Year><Month>06</Month><Day>25</Day></DateCompleted><DateRevised><Year>2015</Year><Month>11</Month><Day>1</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1476-5438</ISSN><JournalIssue CitedMedium="Internet"><Volume>22</Volume><Issue>11</Issue><PubDate><Year>2014</Year><Month>Nov</Month></PubDate></JournalIssue><Title>European journal of human genetics : EJHG</Title><ISOAbbreviation>Eur. J. Hum. Genet.</ISOAbbreviation></Journal><ArticleTitle>Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.</ArticleTitle><Pagination><MedlinePgn>1305-13</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1038/ejhg.2014.16</ELocationID><Abstract><AbstractText>To optimize the molecular diagnosis of hereditary breast and ovarian cancer (HBOC), we developed a next-generation sequencing (NGS)-based screening based on the capture of a panel of genes involved, or suspected to be involved in HBOC, on pooling of indexed DNA and on paired-end sequencing in an Illumina GAIIx platform, followed by confirmation by Sanger sequencing or MLPA/QMPSF. The bioinformatic pipeline included CASAVA, NextGENe, CNVseq and Alamut-HT. We validated this procedure by the analysis of 59 patients' DNAs harbouring SNVs, indels or large genomic rearrangements of BRCA1 or BRCA2. We also conducted a blind study in 168 patients comparing NGS versus Sanger sequencing or MLPA analyses of BRCA1 and BRCA2. All mutations detected by conventional procedures were detected by NGS. We then screened, using three different versions of the capture set, a large series of 708 consecutive patients. We detected in these patients 69 germline deleterious alterations within BRCA1 and BRCA2, and 4 TP53 mutations in 468 patients also tested for this gene. We also found 36 variations inducing either a premature codon stop or a splicing defect among other genes: 5/708 in CHEK2, 3/708 in RAD51C, 1/708 in RAD50, 7/708 in PALB2, 3/708 in MRE11A, 5/708 in ATM, 3/708 in NBS1, 1/708 in CDH1, 3/468 in MSH2, 2/468 in PMS2, 1/708 in BARD1, 1/468 in PMS1 and 1/468 in MLH3. These results demonstrate the efficiency of NGS in performing molecular diagnosis of HBOC. Detection of mutations within other genes than BRCA1 and BRCA2 highlights the genetic heterogeneity of HBOC.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Castéra</LastName><ForeName>Laurent</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>1] Department of Cancer Biology and Genetics, CLCC François Baclesse, Caen, France [2] Inserm U1079, Rouen, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Krieger</LastName><ForeName>Sophie</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>1] Department of Cancer Biology and Genetics, CLCC François Baclesse, Caen, France [2] Inserm U1079, Rouen, France [3] Department of Biochemistry and Toxicology, Caen University, Caen, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Rousselin</LastName><ForeName>Antoine</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Department of Cancer Biology and Genetics, CLCC François Baclesse, Caen, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Legros</LastName><ForeName>Angélina</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Department of Cancer Biology and Genetics, CLCC François Baclesse, Caen, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Baumann</LastName><ForeName>Jean-Jacques</ForeName><Initials>JJ</Initials><AffiliationInfo><Affiliation>Department of Cancer Biology and Genetics, CLCC François Baclesse, Caen, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bruet</LastName><ForeName>Olivia</ForeName><Initials>O</Initials><AffiliationInfo><Affiliation>Department of Cancer Biology and Genetics, CLCC François Baclesse, Caen, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Brault</LastName><ForeName>Baptiste</ForeName><Initials>B</Initials><AffiliationInfo><Affiliation>Department of Cancer Biology and Genetics, CLCC François Baclesse, Caen, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Fouillet</LastName><ForeName>Robin</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Department of Cancer Biology and Genetics, CLCC François Baclesse, Caen, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Goardon</LastName><ForeName>Nicolas</ForeName><Initials>N</Initials><AffiliationInfo><Affiliation>Department of Cancer Biology and Genetics, CLCC François Baclesse, Caen, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Letac</LastName><ForeName>Olivier</ForeName><Initials>O</Initials><AffiliationInfo><Affiliation>Department of Cancer Biology and Genetics, CLCC François Baclesse, Caen, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Baert-Desurmont</LastName><ForeName>Stéphanie</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>1] Inserm U1079, Rouen, France [2] Department of Genetics, University Hospital, Rouen, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Tinat</LastName><ForeName>Julie</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>1] Inserm U1079, Rouen, France [2] Department of Genetics, University Hospital, Rouen, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bera</LastName><ForeName>Odile</ForeName><Initials>O</Initials><AffiliationInfo><Affiliation>Department of Genetics, University Hospital, Fort-de-France, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Dugast</LastName><ForeName>Catherine</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Department of Genetics, University Hospital, Rennes, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Berthet</LastName><ForeName>Pascaline</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Department of Genetics, CLCC François Baclesse, Caen, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Polycarpe</LastName><ForeName>Florence</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>Department of Genetics, CLCC François Baclesse, Caen, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Layet</LastName><ForeName>Valérie</ForeName><Initials>V</Initials><AffiliationInfo><Affiliation>Department of Genetics, Jacques Monod Hospital, Le Havre, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hardouin</LastName><ForeName>Agnes</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>1] Department of Cancer Biology and Genetics, CLCC François Baclesse, Caen, France [2] Inserm U1079, Rouen, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Frébourg</LastName><ForeName>Thierry</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>1] Inserm U1079, Rouen, France [2] Department of Genetics, University Hospital, Rouen, France [3] Rouen University, IRIB, Rouen, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Vaur</LastName><ForeName>Dominique</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>1] Department of Cancer Biology and Genetics, CLCC François Baclesse, Caen, France [2] Inserm U1079, Rouen, France.</Affiliation></AffiliationInfo></Author></AuthorList><Language>ENG</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2014</Year><Month>Feb</Month><Day>19</Day></ArticleDate></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>Eur J Hum Genet</MedlineTA><NlmUniqueID>9302235</NlmUniqueID><ISSNLinking>1018-4813</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D019313">BRCA1 Protein</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C492913">BRCA1 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D024682">BRCA2 Protein</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C551750">BRCA2 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C495901">TP53 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D016159">Tumor Suppressor Protein p53</NameOfSubstance></Chemical></ChemicalList><SupplMeshList><SupplMeshName Type="Disease" UI="C562840">Breast Cancer, Familial</SupplMeshName></SupplMeshList><CitationSubset>IM</CitationSubset><CommentsCorrectionsList><CommentsCorrections RefType="Cites"><RefSource>Gastroenterology. 2000 Dec;119(6):1447-53</RefSource><PMID 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Version="1">11139243</PMID></CommentsCorrections></CommentsCorrectionsList><MeshHeadingList><MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000368" MajorTopicYN="N">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D019313" MajorTopicYN="N">BRCA1 Protein</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName><QualifierName UI="Q000378" MajorTopicYN="N">metabolism</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D024682" MajorTopicYN="N">BRCA2 Protein</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName><QualifierName UI="Q000378" MajorTopicYN="N">metabolism</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D001943" MajorTopicYN="N">Breast Neoplasms</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D018567" MajorTopicYN="N">Breast Neoplasms, Male</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D016022" MajorTopicYN="N">Case-Control Studies</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D019295" MajorTopicYN="N">Computational Biology</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D015321" MajorTopicYN="N">Gene Rearrangement</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D020022" MajorTopicYN="N">Genetic Predisposition to Disease</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005820" MajorTopicYN="N">Genetic Testing</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D023281" MajorTopicYN="N">Genomics</DescriptorName><QualifierName UI="Q000379" MajorTopicYN="Y">methods</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D059014" MajorTopicYN="N">High-Throughput Nucleotide Sequencing</DescriptorName><QualifierName UI="Q000379" MajorTopicYN="Y">methods</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008875" MajorTopicYN="N">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009154" MajorTopicYN="N">Mutation</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D010051" MajorTopicYN="N">Ovarian Neoplasms</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D015203" MajorTopicYN="N">Reproducibility of Results</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D016159" MajorTopicYN="N">Tumor Suppressor Protein p53</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName><QualifierName UI="Q000378" MajorTopicYN="N">metabolism</QualifierName></MeshHeading></MeshHeadingList><OtherID Source="NLM">PMC4200427</OtherID></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2013</Year><Month>10</Month><Day>7</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2014</Year><Month>1</Month><Day>15</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2014</Year><Month>1</Month><Day>16</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2014</Year><Month>2</Month><Day>20</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2014</Year><Month>2</Month><Day>20</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate 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