ABRAXAS (FAM175A) and Breast Cancer Susceptibility: No Evidence of Association in the Breast Cancer Family Registry
Identifieur interne : 002523 ( Main/Exploration ); précédent : 002522; suivant : 002524ABRAXAS (FAM175A) and Breast Cancer Susceptibility: No Evidence of Association in the Breast Cancer Family Registry
Auteurs : Anne-Laure Renault [Canada] ; Fabienne Lesueur [France] ; Yan Coulombe [Canada] ; Stéphane Gobeil [Canada] ; Penny Soucy [Canada] ; Yosr Hamdi [Canada] ; Sylvie Desjardins [Canada] ; Florence Le Calvez-Kelm [France] ; Maxime Vallée [Canada, France] ; Catherine Voegele [France] ; John L. Hopper [Australie] ; Irene L. Andrulis [Canada] ; Melissa C. Southey [Australie] ; Esther M. John [États-Unis] ; Jean-Yves Masson [Canada] ; Sean V. Tavtigian [États-Unis] ; Jacques Simard [Canada]Source :
- PLoS ONE [ 1932-6203 ] ; 2016.
Descripteurs français
- KwdFr :
- Cellules MCF-7, Femelle, Fréquence d'allèle, Humains, Mutation germinale, Pedigree, Polymorphisme de nucléotide simple, Protéines de transport (génétique), Prédisposition génétique à une maladie, Québec, Tumeurs du sein (génétique), Âge de début, Études cas-témoins, Études d'associations génétiques ().
- MESH :
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Carrier Proteins.
- genetics : Breast Neoplasms.
- methods : Genetic Association Studies.
- Age of Onset, Case-Control Studies, Female, Gene Frequency, Genetic Predisposition to Disease, Germ-Line Mutation, Humans, MCF-7 Cells, Pedigree, Polymorphism, Single Nucleotide, Quebec.
Abstract
Approximately half of the familial aggregation of breast cancer remains unexplained. This proportion is less for early-onset disease where familial aggregation is greater, suggesting that other susceptibility genes remain to be discovered. The majority of known breast cancer susceptibility genes are involved in the DNA double-strand break repair pathway.
Url:
DOI: 10.1371/journal.pone.0156820
PubMed: 27270457
PubMed Central: 4896418
Affiliations:
- Australie, Canada, France, États-Unis
- Auvergne-Rhône-Alpes, Ontario, Rhône-Alpes, Victoria (État), Île-de-France
- Lyon, Melbourne, Paris, Toronto
- Université de Melbourne, Université de Toronto
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Le document en format XML
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<author><name sortKey="Hopper, John L" sort="Hopper, John L" uniqKey="Hopper J" first="John L." last="Hopper">John L. Hopper</name>
<affiliation wicri:level="4"><nlm:aff id="aff005"><addr-line>Center for Epidemiology and Biostatistics, School of Population and Global Health, The University of Melbourne, Victoria, Australia</addr-line>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Center for Epidemiology and Biostatistics, School of Population and Global Health, The University of Melbourne, Victoria</wicri:regionArea>
<orgName type="university">Université de Melbourne</orgName>
<placeName><settlement type="city">Melbourne</settlement>
<region type="état">Victoria (État)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Andrulis, Irene L" sort="Andrulis, Irene L" uniqKey="Andrulis I" first="Irene L." last="Andrulis">Irene L. Andrulis</name>
<affiliation wicri:level="1"><nlm:aff id="aff006"><addr-line>Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Toronto, Canada</addr-line>
</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Toronto</wicri:regionArea>
<wicri:noRegion>Toronto</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="aff007"><addr-line>Department of Molecular Genetics, University of Toronto, Toronto, Canada</addr-line>
</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Molecular Genetics, University of Toronto, Toronto</wicri:regionArea>
<orgName type="university">Université de Toronto</orgName>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Southey, Melissa C" sort="Southey, Melissa C" uniqKey="Southey M" first="Melissa C." last="Southey">Melissa C. Southey</name>
<affiliation wicri:level="4"><nlm:aff id="aff008"><addr-line>Genetic Epidemiology Laboratory, The University of Melbourne, Victoria, Australia</addr-line>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Genetic Epidemiology Laboratory, The University of Melbourne, Victoria</wicri:regionArea>
<orgName type="university">Université de Melbourne</orgName>
<placeName><settlement type="city">Melbourne</settlement>
<region type="état">Victoria (État)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="John, Esther M" sort="John, Esther M" uniqKey="John E" first="Esther M." last="John">Esther M. John</name>
<affiliation wicri:level="1"><nlm:aff id="aff009"><addr-line>Cancer Prevention Institute of California, Fremont, United States of America</addr-line>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Cancer Prevention Institute of California, Fremont</wicri:regionArea>
<wicri:noRegion>Fremont</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff010"><addr-line>Stanford University School of Medicine and Stanford Cancer Institute, Stanford, United States of America</addr-line>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Stanford University School of Medicine and Stanford Cancer Institute, Stanford</wicri:regionArea>
<wicri:noRegion>Stanford</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Masson, Jean Yves" sort="Masson, Jean Yves" uniqKey="Masson J" first="Jean-Yves" last="Masson">Jean-Yves Masson</name>
<affiliation wicri:level="1"><nlm:aff id="aff003"><addr-line>Genome Stability Laboratory, Centre Hospitalier Universitaire de Québec Research Center, HDQ Pavillon, Oncology Axis, Quebec, Canada</addr-line>
</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Genome Stability Laboratory, Centre Hospitalier Universitaire de Québec Research Center, HDQ Pavillon, Oncology Axis, Quebec</wicri:regionArea>
<wicri:noRegion>Quebec</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff011"><addr-line>Department of Molecular Biology, Medical Biochemistry and Pathology, Laval University, Quebec, Canada</addr-line>
</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Molecular Biology, Medical Biochemistry and Pathology, Laval University, Quebec</wicri:regionArea>
<wicri:noRegion>Quebec</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Tavtigian, Sean V" sort="Tavtigian, Sean V" uniqKey="Tavtigian S" first="Sean V." last="Tavtigian">Sean V. Tavtigian</name>
<affiliation wicri:level="1"><nlm:aff id="aff012"><addr-line>Department of Oncological Sciences, University of Utah, Salt Lake City, United States of America</addr-line>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Oncological Sciences, University of Utah, Salt Lake City</wicri:regionArea>
<wicri:noRegion>Salt Lake City</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff013"><addr-line>Huntsman Cancer Institute, University of Utah, Salt Lake City, United States of America</addr-line>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Huntsman Cancer Institute, University of Utah, Salt Lake City</wicri:regionArea>
<wicri:noRegion>Salt Lake City</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Simard, Jacques" sort="Simard, Jacques" uniqKey="Simard J" first="Jacques" last="Simard">Jacques Simard</name>
<affiliation wicri:level="1"><nlm:aff id="aff001"><addr-line>Genomics Center, Centre Hospitalier Universitaire de Québec Research Center and Laval University, Quebec, Canada</addr-line>
</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Genomics Center, Centre Hospitalier Universitaire de Québec Research Center and Laval University, Quebec</wicri:regionArea>
<wicri:noRegion>Quebec</wicri:noRegion>
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<series><title level="j">PLoS ONE</title>
<idno type="eISSN">1932-6203</idno>
<imprint><date when="2016">2016</date>
</imprint>
</series>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Age of Onset</term>
<term>Breast Neoplasms (genetics)</term>
<term>Carrier Proteins (genetics)</term>
<term>Case-Control Studies</term>
<term>Female</term>
<term>Gene Frequency</term>
<term>Genetic Association Studies (methods)</term>
<term>Genetic Predisposition to Disease</term>
<term>Germ-Line Mutation</term>
<term>Humans</term>
<term>MCF-7 Cells</term>
<term>Pedigree</term>
<term>Polymorphism, Single Nucleotide</term>
<term>Quebec</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Cellules MCF-7</term>
<term>Femelle</term>
<term>Fréquence d'allèle</term>
<term>Humains</term>
<term>Mutation germinale</term>
<term>Pedigree</term>
<term>Polymorphisme de nucléotide simple</term>
<term>Protéines de transport (génétique)</term>
<term>Prédisposition génétique à une maladie</term>
<term>Québec</term>
<term>Tumeurs du sein (génétique)</term>
<term>Âge de début</term>
<term>Études cas-témoins</term>
<term>Études d'associations génétiques ()</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Carrier Proteins</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Breast Neoplasms</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Protéines de transport</term>
<term>Tumeurs du sein</term>
</keywords>
<keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Genetic Association Studies</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Age of Onset</term>
<term>Case-Control Studies</term>
<term>Female</term>
<term>Gene Frequency</term>
<term>Genetic Predisposition to Disease</term>
<term>Germ-Line Mutation</term>
<term>Humans</term>
<term>MCF-7 Cells</term>
<term>Pedigree</term>
<term>Polymorphism, Single Nucleotide</term>
<term>Quebec</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Cellules MCF-7</term>
<term>Femelle</term>
<term>Fréquence d'allèle</term>
<term>Humains</term>
<term>Mutation germinale</term>
<term>Pedigree</term>
<term>Polymorphisme de nucléotide simple</term>
<term>Prédisposition génétique à une maladie</term>
<term>Québec</term>
<term>Âge de début</term>
<term>Études cas-témoins</term>
<term>Études d'associations génétiques</term>
</keywords>
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<front><div type="abstract" xml:lang="en"><p>Approximately half of the familial aggregation of breast cancer remains unexplained. This proportion is less for early-onset disease where familial aggregation is greater, suggesting that other susceptibility genes remain to be discovered. The majority of known breast cancer susceptibility genes are involved in the DNA double-strand break repair pathway. <italic>ABRAXAS</italic>
is involved in this pathway and mutations in this gene impair BRCA1 recruitment to DNA damage foci and increase cell sensitivity to ionizing radiation. Moreover, a recurrent germline mutation was reported in Finnish high-risk breast cancer families. To determine if <italic>ABRAXAS</italic>
could be a breast cancer susceptibility gene in other populations, we conducted a population-based case-control mutation screening study of the coding exons and exon/intron boundaries of <italic>ABRAXAS</italic>
in the Breast Cancer Family Registry. In addition to the common variant p.Asp373Asn, sixteen distinct rare variants were identified. Although no significant difference in allele frequencies between cases and controls was observed for the identified variants, two variants, p.Gly39Val and p.Thr141Ile, were shown to diminish phosphorylation of gamma-H2AX in MCF7 human breast adenocarcinoma cells, an important biomarker of DNA double-strand breaks. Overall, likely damaging or neutral variants were evenly represented among cases and controls suggesting that rare variants in <italic>ABRAXAS</italic>
may explain only a small proportion of hereditary breast cancer.</p>
</div>
</front>
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<author><name sortKey="Pennil, Cc" uniqKey="Pennil C">CC Pennil</name>
</author>
<author><name sortKey="Rendi, Mh" uniqKey="Rendi M">MH Rendi</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="John, Em" uniqKey="John E">EM John</name>
</author>
<author><name sortKey="Hopper, Jl" uniqKey="Hopper J">JL Hopper</name>
</author>
<author><name sortKey="Beck, Jc" uniqKey="Beck J">JC Beck</name>
</author>
<author><name sortKey="Knight, Ja" uniqKey="Knight J">JA Knight</name>
</author>
<author><name sortKey="Neuhausen, Sl" uniqKey="Neuhausen S">SL Neuhausen</name>
</author>
<author><name sortKey="Senie, Rt" uniqKey="Senie R">RT Senie</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Park, Dj" uniqKey="Park D">DJ Park</name>
</author>
<author><name sortKey="Lesueur, F" uniqKey="Lesueur F">F Lesueur</name>
</author>
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<author><name sortKey="Hammet, F" uniqKey="Hammet F">F Hammet</name>
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</analytic>
</biblStruct>
<biblStruct></biblStruct>
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</author>
<author><name sortKey="O Sullivan, O" uniqKey="O Sullivan O">O O'Sullivan</name>
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</author>
<author><name sortKey="Notredame, C" uniqKey="Notredame C">C Notredame</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Tavtigian, Sv" uniqKey="Tavtigian S">SV Tavtigian</name>
</author>
<author><name sortKey="Greenblatt, Ms" uniqKey="Greenblatt M">MS Greenblatt</name>
</author>
<author><name sortKey="Lesueur, F" uniqKey="Lesueur F">F Lesueur</name>
</author>
<author><name sortKey="Byrnes, Gb" uniqKey="Byrnes G">GB Byrnes</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Grantham, R" uniqKey="Grantham R">R Grantham</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Ng, Pc" uniqKey="Ng P">PC Ng</name>
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</biblStruct>
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<author><name sortKey="Schmidt, S" uniqKey="Schmidt S">S Schmidt</name>
</author>
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</author>
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<author><name sortKey="Bork, P" uniqKey="Bork P">P Bork</name>
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</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Zhang, Mq" uniqKey="Zhang M">MQ Zhang</name>
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</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Yeo, G" uniqKey="Yeo G">G Yeo</name>
</author>
<author><name sortKey="Burge, Cb" uniqKey="Burge C">CB Burge</name>
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</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Reese, Mg" uniqKey="Reese M">MG Reese</name>
</author>
<author><name sortKey="Eeckman, Fh" uniqKey="Eeckman F">FH Eeckman</name>
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<author><name sortKey="Kulp, D" uniqKey="Kulp D">D Kulp</name>
</author>
<author><name sortKey="Haussler, D" uniqKey="Haussler D">D Haussler</name>
</author>
</analytic>
</biblStruct>
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</author>
<author><name sortKey="Lin, X" uniqKey="Lin X">X Lin</name>
</author>
<author><name sortKey="Salzberg, Sl" uniqKey="Salzberg S">SL Salzberg</name>
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</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Desmet, Fo" uniqKey="Desmet F">FO Desmet</name>
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<author><name sortKey="Beroud, C" uniqKey="Beroud C">C Béroud</name>
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</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Werner, T" uniqKey="Werner T">T Werner</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Pinheiro, J" uniqKey="Pinheiro J">J Pinheiro</name>
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<author><name sortKey="B, D" uniqKey="B D">D B</name>
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</author>
<author><name sortKey="Sarkar, D" uniqKey="Sarkar D">D Sarkar</name>
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</analytic>
</biblStruct>
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<author><name sortKey="Barroso, A" uniqKey="Barroso A">A Barroso</name>
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</analytic>
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</div1>
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</TEI>
<affiliations><list><country><li>Australie</li>
<li>Canada</li>
<li>France</li>
<li>États-Unis</li>
</country>
<region><li>Auvergne-Rhône-Alpes</li>
<li>Ontario</li>
<li>Rhône-Alpes</li>
<li>Victoria (État)</li>
<li>Île-de-France</li>
</region>
<settlement><li>Lyon</li>
<li>Melbourne</li>
<li>Paris</li>
<li>Toronto</li>
</settlement>
<orgName><li>Université de Melbourne</li>
<li>Université de Toronto</li>
</orgName>
</list>
<tree><country name="Canada"><noRegion><name sortKey="Renault, Anne Laure" sort="Renault, Anne Laure" uniqKey="Renault A" first="Anne-Laure" last="Renault">Anne-Laure Renault</name>
</noRegion>
<name sortKey="Andrulis, Irene L" sort="Andrulis, Irene L" uniqKey="Andrulis I" first="Irene L." last="Andrulis">Irene L. Andrulis</name>
<name sortKey="Andrulis, Irene L" sort="Andrulis, Irene L" uniqKey="Andrulis I" first="Irene L." last="Andrulis">Irene L. Andrulis</name>
<name sortKey="Coulombe, Yan" sort="Coulombe, Yan" uniqKey="Coulombe Y" first="Yan" last="Coulombe">Yan Coulombe</name>
<name sortKey="Desjardins, Sylvie" sort="Desjardins, Sylvie" uniqKey="Desjardins S" first="Sylvie" last="Desjardins">Sylvie Desjardins</name>
<name sortKey="Gobeil, Stephane" sort="Gobeil, Stephane" uniqKey="Gobeil S" first="Stéphane" last="Gobeil">Stéphane Gobeil</name>
<name sortKey="Hamdi, Yosr" sort="Hamdi, Yosr" uniqKey="Hamdi Y" first="Yosr" last="Hamdi">Yosr Hamdi</name>
<name sortKey="Masson, Jean Yves" sort="Masson, Jean Yves" uniqKey="Masson J" first="Jean-Yves" last="Masson">Jean-Yves Masson</name>
<name sortKey="Masson, Jean Yves" sort="Masson, Jean Yves" uniqKey="Masson J" first="Jean-Yves" last="Masson">Jean-Yves Masson</name>
<name sortKey="Simard, Jacques" sort="Simard, Jacques" uniqKey="Simard J" first="Jacques" last="Simard">Jacques Simard</name>
<name sortKey="Soucy, Penny" sort="Soucy, Penny" uniqKey="Soucy P" first="Penny" last="Soucy">Penny Soucy</name>
<name sortKey="Vallee, Maxime" sort="Vallee, Maxime" uniqKey="Vallee M" first="Maxime" last="Vallée">Maxime Vallée</name>
</country>
<country name="France"><region name="Île-de-France"><name sortKey="Lesueur, Fabienne" sort="Lesueur, Fabienne" uniqKey="Lesueur F" first="Fabienne" last="Lesueur">Fabienne Lesueur</name>
</region>
<name sortKey="Le Calvez Kelm, Florence" sort="Le Calvez Kelm, Florence" uniqKey="Le Calvez Kelm F" first="Florence" last="Le Calvez-Kelm">Florence Le Calvez-Kelm</name>
<name sortKey="Vallee, Maxime" sort="Vallee, Maxime" uniqKey="Vallee M" first="Maxime" last="Vallée">Maxime Vallée</name>
<name sortKey="Voegele, Catherine" sort="Voegele, Catherine" uniqKey="Voegele C" first="Catherine" last="Voegele">Catherine Voegele</name>
</country>
<country name="Australie"><region name="Victoria (État)"><name sortKey="Hopper, John L" sort="Hopper, John L" uniqKey="Hopper J" first="John L." last="Hopper">John L. Hopper</name>
</region>
<name sortKey="Southey, Melissa C" sort="Southey, Melissa C" uniqKey="Southey M" first="Melissa C." last="Southey">Melissa C. Southey</name>
</country>
<country name="États-Unis"><noRegion><name sortKey="John, Esther M" sort="John, Esther M" uniqKey="John E" first="Esther M." last="John">Esther M. John</name>
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<name sortKey="John, Esther M" sort="John, Esther M" uniqKey="John E" first="Esther M." last="John">Esther M. John</name>
<name sortKey="Tavtigian, Sean V" sort="Tavtigian, Sean V" uniqKey="Tavtigian S" first="Sean V." last="Tavtigian">Sean V. Tavtigian</name>
<name sortKey="Tavtigian, Sean V" sort="Tavtigian, Sean V" uniqKey="Tavtigian S" first="Sean V." last="Tavtigian">Sean V. Tavtigian</name>
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</tree>
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</record>
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