AustralieFrV1, Main, Exploration, bibRecord, 003577

Rare mutations in RINT1 predispose carriers to breast and Lynch Syndrome-spectrum cancers

Identifieur interne : 003577 ( Main/Exploration ); précédent : 003576; suivant : 003578

Rare mutations in RINT1 predispose carriers to breast and Lynch Syndrome-spectrum cancers

Auteurs : Daniel J. Park [Australie] ; Kayoko Tao [États-Unis] ; Florence Le Calvez-Kelm [France] ; Tu Nguyen-Dumont [Australie] ; Nivonirina Robinot [France] ; Fleur Hammet [Australie] ; Fabrice Odefrey [Australie] ; Helen Tsimiklis [Australie] ; Zhi L. Teo [Australie] ; Louise B. Thingholm [Australie] ; Erin L. Young [États-Unis] ; Catherine Voegele [France] ; Andrew Lonie [Australie] ; Bernard J. Pope [Australie] ; Terrell C. Roane [États-Unis] ; Russell Bell [États-Unis] ; Hao Hu [États-Unis] ; Chad D. Huff [États-Unis] ; Jonathan Ellis [Australie] ; Jun Li [Australie] ; Igor V. Makunin [Australie] ; Esther M. John [États-Unis] ; Irene L. Andrulis [Canada] ; Mary B. Terry [États-Unis] ; Mary Daly [États-Unis] ; Saundra S. Buys [États-Unis] ; Carrie Snyder [États-Unis] ; Henry T. Lynch [États-Unis] ; Peter Devilee [Pays-Bas] ; Graham G. Giles [Australie] ; John L. Hopper [Australie, Corée du Sud] ; Bing J. Feng [États-Unis] ; Fabienne Lesueur [France] ; Sean V. Tavtigian [États-Unis] ; Melissa C. Southey [Australie] ; David E. Goldgar [États-Unis]

Source :

Cancer discovery [ 2159-8274 ] ; 2014.

RBID : PMC:4234633

Descripteurs français

English descriptors

KwdEn :
- Breast Neoplasms (genetics), Case-Control Studies, Cell Cycle Proteins (genetics), Colorectal Neoplasms, Hereditary Nonpolyposis (genetics), Exome, Female, Genetic Predisposition to Disease, Genetic Variation, High-Throughput Nucleotide Sequencing, Humans, Male, Mutation, Pedigree, Sequence Analysis, DNA.
MESH :
- chemical , genetics : Cell Cycle Proteins.
- genetics : Breast Neoplasms, Colorectal Neoplasms, Hereditary Nonpolyposis.
- Case-Control Studies, Exome, Female, Genetic Predisposition to Disease, Genetic Variation, High-Throughput Nucleotide Sequencing, Humans, Male, Mutation, Pedigree, Sequence Analysis, DNA.

Abstract

Approximately half of the familial aggregation of breast cancer remains unexplained. A multiple-case breast cancer family exome sequencing study identified three likely pathogenic mutations in RINT1 (NM_021930.4) not present in public sequencing databases: RINT1 c.343C>T (p.Q115X), c.1132_1134del (p.M378del) and c.1207G>T (p.D403Y). Based on this finding, a population-based case-control mutation-screening study was conducted and identified 29 carriers of rare (MAF < 0.5%), likely pathogenic variants: 23 in 1,313 early-onset breast cancer cases and 6 in 1,123 frequency-matched controls (OR=3.24, 95%CI 1.29-8.17; p=0.013). RINT1 mutation screening of probands from 798 multiple-case breast cancer families identified 4additional carriers of rare genetic variants. Analysis of the incidence of first primary cancers in families of women in RINT1-mutation carrying families estimated that carriers were at increased risks of Lynch syndrome-spectrum cancers (SIR 3.35, 95% CI 1.7-6.0; P=0.005), particularly for relatives diagnosed with cancer under age 60 years (SIR 10.9, 95%CI 4.7-21; P=0.0003).

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4234633

DOI: 10.1158/2159-8290.CD-14-0212
PubMed: 25050558
PubMed Central: 4234633

Affiliations:

Le document en format XML

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<country xml:lang="fr">Australie</country>
<wicri:regionArea>The QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston, QLD 4006</wicri:regionArea>
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<author><name sortKey="Andrulis, Irene L" sort="Andrulis, Irene L" uniqKey="Andrulis I" first="Irene L." last="Andrulis">Irene L. Andrulis</name>
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<wicri:regionArea>Department of Molecular Genetics, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, ON M5G 1X5</wicri:regionArea>
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<wicri:regionArea>Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY 10032</wicri:regionArea>
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<author><name sortKey="Daly, Mary" sort="Daly, Mary" uniqKey="Daly M" first="Mary" last="Daly">Mary Daly</name>
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<author><name sortKey="Buys, Saundra S" sort="Buys, Saundra S" uniqKey="Buys S" first="Saundra S." last="Buys">Saundra S. Buys</name>
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<wicri:cityArea>Department of Preventive Medicine, Creighton University, Omaha</wicri:cityArea>
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<wicri:cityArea>Department of Preventive Medicine, Creighton University, Omaha</wicri:cityArea>
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<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Leiden University Medical Center, Leiden</wicri:regionArea>
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<region nuts="2" type="province">Hollande-Méridionale</region>
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<author><name sortKey="Giles, Graham G" sort="Giles, Graham G" uniqKey="Giles G" first="Graham G." last="Giles">Graham G. Giles</name>
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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>
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<country xml:lang="fr">Australie</country>
<wicri:regionArea>Centre for, Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Victoria 3010</wicri:regionArea>
<orgName type="university">Université de Melbourne</orgName>
<placeName><settlement type="city">Melbourne</settlement>
<region type="état">Victoria (État)</region>
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<affiliation wicri:level="4"><nlm:aff id="A19">School of Public Health, Seoul National University, Seoul, Korea</nlm:aff>
<country xml:lang="fr">Corée du Sud</country>
<wicri:regionArea>School of Public Health, Seoul National University, Seoul</wicri:regionArea>
<placeName><settlement type="city">Séoul</settlement>
<region type="capital">Région capitale de Séoul</region>
<settlement type="city">Séoul</settlement>
</placeName>
<orgName type="university">Université nationale de Séoul</orgName>
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</author>
<author><name sortKey="Feng, Bing J" sort="Feng, Bing J" uniqKey="Feng B" first="Bing J." last="Feng">Bing J. Feng</name>
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<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Huntsman Cancer Institute, University of Utah Health Sciences Center, Salt Lake City, UT 84112</wicri:regionArea>
<placeName><region type="state">Utah</region>
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<affiliation wicri:level="2"><nlm:aff id="A20">Department of Dermatology, University of Utah School of Medicine, Salt Lake City, UT 84132 USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Utah</region>
</placeName>
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</author>
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<country xml:lang="fr">France</country>
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<region type="old region" nuts="2">Rhône-Alpes</region>
<settlement type="city">Lyon</settlement>
</placeName>
</affiliation>
<affiliation><nlm:aff id="A21">Genetic Epidemiology of Cancer Team, Inserm, U900, Institut Curie, Mines ParisTech</nlm:aff>
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</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="2"><nlm:aff id="A2">Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT 84112, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT 84112</wicri:regionArea>
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</placeName>
</affiliation>
</author>
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<wicri:regionArea>Genetic Epidemiology Laboratory, The University of Melbourne, Victoria 3010</wicri:regionArea>
<orgName type="university">Université de Melbourne</orgName>
<placeName><settlement type="city">Melbourne</settlement>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Goldgar, David E" sort="Goldgar, David E" uniqKey="Goldgar D" first="David E." last="Goldgar">David E. Goldgar</name>
<affiliation wicri:level="2"><nlm:aff id="A14">Huntsman Cancer Institute, University of Utah Health Sciences Center, Salt Lake City, UT 84112, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Huntsman Cancer Institute, University of Utah Health Sciences Center, Salt Lake City, UT 84112</wicri:regionArea>
<placeName><region type="state">Utah</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A20">Department of Dermatology, University of Utah School of Medicine, Salt Lake City, UT 84132 USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Utah</region>
</placeName>
<wicri:cityArea>Department of Dermatology, University of Utah School of Medicine, Salt Lake City</wicri:cityArea>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Rare mutations in <italic>RINT1</italic>
 predispose carriers to breast and Lynch Syndrome-spectrum cancers</title>
<author><name sortKey="Park, Daniel J" sort="Park, Daniel J" uniqKey="Park D" first="Daniel J." last="Park">Daniel J. Park</name>
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<country xml:lang="fr">Australie</country>
<wicri:regionArea>Genetic Epidemiology Laboratory, The University of Melbourne, Victoria 3010</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="Tao, Kayoko" sort="Tao, Kayoko" uniqKey="Tao K" first="Kayoko" last="Tao">Kayoko Tao</name>
<affiliation wicri:level="2"><nlm:aff id="A2">Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT 84112, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT 84112</wicri:regionArea>
<placeName><region type="state">Utah</region>
</placeName>
</affiliation>
</author>
<author><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>
<affiliation wicri:level="3"><nlm:aff id="A3">Genetic Cancer Susceptibility Group, International Agency for Research on Cancer, 69372 Lyon, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Genetic Cancer Susceptibility Group, International Agency for Research on Cancer, 69372 Lyon</wicri:regionArea>
<placeName><region type="region" nuts="2">Auvergne-Rhône-Alpes</region>
<region type="old region" nuts="2">Rhône-Alpes</region>
<settlement type="city">Lyon</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Nguyen Dumont, Tu" sort="Nguyen Dumont, Tu" uniqKey="Nguyen Dumont T" first="Tu" last="Nguyen-Dumont">Tu Nguyen-Dumont</name>
<affiliation wicri:level="4"><nlm:aff id="A1">Genetic Epidemiology Laboratory, The University of Melbourne, Victoria 3010, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Genetic Epidemiology Laboratory, The University of Melbourne, Victoria 3010</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="Robinot, Nivonirina" sort="Robinot, Nivonirina" uniqKey="Robinot N" first="Nivonirina" last="Robinot">Nivonirina Robinot</name>
<affiliation wicri:level="1"><nlm:aff id="A3">Genetic Cancer Susceptibility Group, International Agency for Research on Cancer, 69372 Lyon, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Genetic Cancer Susceptibility Group, International Agency for Research on Cancer, 69372 Lyon</wicri:regionArea>
<wicri:noRegion>69372 Lyon</wicri:noRegion>
<placeName><settlement type="city">Lyon</settlement>
<region type="region" nuts="2">Auvergne-Rhône-Alpes</region>
<region type="old region" nuts="2">Rhône-Alpes</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hammet, Fleur" sort="Hammet, Fleur" uniqKey="Hammet F" first="Fleur" last="Hammet">Fleur Hammet</name>
<affiliation wicri:level="4"><nlm:aff id="A1">Genetic Epidemiology Laboratory, The University of Melbourne, Victoria 3010, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Genetic Epidemiology Laboratory, The University of Melbourne, Victoria 3010</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="Odefrey, Fabrice" sort="Odefrey, Fabrice" uniqKey="Odefrey F" first="Fabrice" last="Odefrey">Fabrice Odefrey</name>
<affiliation wicri:level="4"><nlm:aff id="A1">Genetic Epidemiology Laboratory, The University of Melbourne, Victoria 3010, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Genetic Epidemiology Laboratory, The University of Melbourne, Victoria 3010</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="Tsimiklis, Helen" sort="Tsimiklis, Helen" uniqKey="Tsimiklis H" first="Helen" last="Tsimiklis">Helen Tsimiklis</name>
<affiliation wicri:level="4"><nlm:aff id="A1">Genetic Epidemiology Laboratory, The University of Melbourne, Victoria 3010, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Genetic Epidemiology Laboratory, The University of Melbourne, Victoria 3010</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="Teo, Zhi L" sort="Teo, Zhi L" uniqKey="Teo Z" first="Zhi L." last="Teo">Zhi L. Teo</name>
<affiliation wicri:level="4"><nlm:aff id="A1">Genetic Epidemiology Laboratory, The University of Melbourne, Victoria 3010, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Genetic Epidemiology Laboratory, The University of Melbourne, Victoria 3010</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="Thingholm, Louise B" sort="Thingholm, Louise B" uniqKey="Thingholm L" first="Louise B." last="Thingholm">Louise B. Thingholm</name>
<affiliation wicri:level="4"><nlm:aff id="A1">Genetic Epidemiology Laboratory, The University of Melbourne, Victoria 3010, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Genetic Epidemiology Laboratory, The University of Melbourne, Victoria 3010</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="Young, Erin L" sort="Young, Erin L" uniqKey="Young E" first="Erin L." last="Young">Erin L. Young</name>
<affiliation wicri:level="2"><nlm:aff id="A2">Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT 84112, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT 84112</wicri:regionArea>
<placeName><region type="state">Utah</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Voegele, Catherine" sort="Voegele, Catherine" uniqKey="Voegele C" first="Catherine" last="Voegele">Catherine Voegele</name>
<affiliation wicri:level="3"><nlm:aff id="A3">Genetic Cancer Susceptibility Group, International Agency for Research on Cancer, 69372 Lyon, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Genetic Cancer Susceptibility Group, International Agency for Research on Cancer, 69372 Lyon</wicri:regionArea>
<placeName><region type="region" nuts="2">Auvergne-Rhône-Alpes</region>
<region type="old region" nuts="2">Rhône-Alpes</region>
<settlement type="city">Lyon</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lonie, Andrew" sort="Lonie, Andrew" uniqKey="Lonie A" first="Andrew" last="Lonie">Andrew Lonie</name>
<affiliation wicri:level="1"><nlm:aff id="A4">Victorian Life Sciences Computation Initiative, Carlton, Victoria 3010, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Victorian Life Sciences Computation Initiative, Carlton, Victoria 3010</wicri:regionArea>
<wicri:noRegion>Victoria 3010</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Pope, Bernard J" sort="Pope, Bernard J" uniqKey="Pope B" first="Bernard J." last="Pope">Bernard J. Pope</name>
<affiliation wicri:level="1"><nlm:aff id="A4">Victorian Life Sciences Computation Initiative, Carlton, Victoria 3010, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Victorian Life Sciences Computation Initiative, Carlton, Victoria 3010</wicri:regionArea>
<wicri:noRegion>Victoria 3010</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="A5">Department of Computing and Information Systems, The University of Melbourne, Victoria 3010, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Computing and Information Systems, The University of Melbourne, Victoria 3010</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="Roane, Terrell C" sort="Roane, Terrell C" uniqKey="Roane T" first="Terrell C." last="Roane">Terrell C. Roane</name>
<affiliation wicri:level="4"><nlm:aff id="A6">University of Texas at Austin, Austin, TX 78712, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>University of Texas at Austin, Austin, TX 78712</wicri:regionArea>
<placeName><region type="state">Texas</region>
<settlement type="city">Austin (Texas)</settlement>
</placeName>
<orgName type="university">Université du Texas à Austin</orgName>
</affiliation>
</author>
<author><name sortKey="Bell, Russell" sort="Bell, Russell" uniqKey="Bell R" first="Russell" last="Bell">Russell Bell</name>
<affiliation wicri:level="2"><nlm:aff id="A2">Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT 84112, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT 84112</wicri:regionArea>
<placeName><region type="state">Utah</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hu, Hao" sort="Hu, Hao" uniqKey="Hu H" first="Hao" last="Hu">Hao Hu</name>
<affiliation wicri:level="2"><nlm:aff id="A7">Department of Epidemiology, The University of Texas M.D. Anderson Cancer Center, Houston, TX 77030, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Epidemiology, The University of Texas M.D. Anderson Cancer Center, Houston, TX 77030</wicri:regionArea>
<placeName><region type="state">Texas</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Huff, Chad D" sort="Huff, Chad D" uniqKey="Huff C" first="Chad D." last="Huff">Chad D. Huff</name>
<affiliation wicri:level="2"><nlm:aff id="A7">Department of Epidemiology, The University of Texas M.D. Anderson Cancer Center, Houston, TX 77030, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Epidemiology, The University of Texas M.D. Anderson Cancer Center, Houston, TX 77030</wicri:regionArea>
<placeName><region type="state">Texas</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Ellis, Jonathan" sort="Ellis, Jonathan" uniqKey="Ellis J" first="Jonathan" last="Ellis">Jonathan Ellis</name>
<affiliation wicri:level="1"><nlm:aff id="A8">The QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston, QLD 4006, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>The QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston, QLD 4006</wicri:regionArea>
<wicri:noRegion>QLD 4006</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Li, Jun" sort="Li, Jun" uniqKey="Li J" first="Jun" last="Li">Jun Li</name>
<affiliation wicri:level="1"><nlm:aff id="A8">The QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston, QLD 4006, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>The QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston, QLD 4006</wicri:regionArea>
<wicri:noRegion>QLD 4006</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Makunin, Igor V" sort="Makunin, Igor V" uniqKey="Makunin I" first="Igor V." last="Makunin">Igor V. Makunin</name>
<affiliation wicri:level="1"><nlm:aff id="A8">The QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston, QLD 4006, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>The QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston, QLD 4006</wicri:regionArea>
<wicri:noRegion>QLD 4006</wicri:noRegion>
</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="2"><nlm:aff id="A9">Cancer Prevention Institute of California, Fremont, CA 94538, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Cancer Prevention Institute of California, Fremont, CA 94538</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A10">Department of Health Research and Policy, Stanford Cancer Institute, Stanford, CA 94305, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Health Research and Policy, Stanford Cancer Institute, Stanford, CA 94305</wicri:regionArea>
<placeName><region type="state">Californie</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="A11">Department of Molecular Genetics, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, ON M5G 1X5, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Molecular Genetics, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, ON M5G 1X5</wicri:regionArea>
<wicri:noRegion>ON M5G 1X5</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Terry, Mary B" sort="Terry, Mary B" uniqKey="Terry M" first="Mary B." last="Terry">Mary B. Terry</name>
<affiliation wicri:level="4"><nlm:aff id="A12">Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY 10032, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY 10032</wicri:regionArea>
<placeName><region type="state">État de New York</region>
<settlement type="city">New York</settlement>
</placeName>
<orgName type="university">Université Columbia</orgName>
</affiliation>
</author>
<author><name sortKey="Daly, Mary" sort="Daly, Mary" uniqKey="Daly M" first="Mary" last="Daly">Mary Daly</name>
<affiliation wicri:level="2"><nlm:aff id="A13">Fox Chase Cancer Center, Philadelphia, PA 19111, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Fox Chase Cancer Center, Philadelphia, PA 19111</wicri:regionArea>
<placeName><region type="state">Pennsylvanie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Buys, Saundra S" sort="Buys, Saundra S" uniqKey="Buys S" first="Saundra S." last="Buys">Saundra S. Buys</name>
<affiliation wicri:level="2"><nlm:aff id="A14">Huntsman Cancer Institute, University of Utah Health Sciences Center, Salt Lake City, UT 84112, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Huntsman Cancer Institute, University of Utah Health Sciences Center, Salt Lake City, UT 84112</wicri:regionArea>
<placeName><region type="state">Utah</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Snyder, Carrie" sort="Snyder, Carrie" uniqKey="Snyder C" first="Carrie" last="Snyder">Carrie Snyder</name>
<affiliation wicri:level="2"><nlm:aff id="A15">Department of Preventive Medicine, Creighton University, Omaha, NE 68178</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Nebraska</region>
</placeName>
<wicri:cityArea>Department of Preventive Medicine, Creighton University, Omaha</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Lynch, Henry T" sort="Lynch, Henry T" uniqKey="Lynch H" first="Henry T." last="Lynch">Henry T. Lynch</name>
<affiliation wicri:level="2"><nlm:aff id="A15">Department of Preventive Medicine, Creighton University, Omaha, NE 68178</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Nebraska</region>
</placeName>
<wicri:cityArea>Department of Preventive Medicine, Creighton University, Omaha</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Devilee, Peter" sort="Devilee, Peter" uniqKey="Devilee P" first="Peter" last="Devilee">Peter Devilee</name>
<affiliation wicri:level="3"><nlm:aff id="A16">Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Leiden University Medical Center, Leiden</wicri:regionArea>
<placeName><settlement type="city">Leyde</settlement>
<region nuts="2" type="province">Hollande-Méridionale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Giles, Graham G" sort="Giles, Graham G" uniqKey="Giles G" first="Graham G." last="Giles">Graham G. Giles</name>
<affiliation wicri:level="1"><nlm:aff id="A17">Centre for Cancer Epidemiology, The Cancer Council Victoria, Carlton, Victoria 3004, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Centre for Cancer Epidemiology, The Cancer Council Victoria, Carlton, Victoria 3004</wicri:regionArea>
<wicri:noRegion>Victoria 3004</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="A18">Centre for, Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Victoria 3010, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Centre for, Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Victoria 3010</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="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="A18">Centre for, Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Victoria 3010, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Centre for, Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Victoria 3010</wicri:regionArea>
<orgName type="university">Université de Melbourne</orgName>
<placeName><settlement type="city">Melbourne</settlement>
<region type="état">Victoria (État)</region>
</placeName>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="A19">School of Public Health, Seoul National University, Seoul, Korea</nlm:aff>
<country xml:lang="fr">Corée du Sud</country>
<wicri:regionArea>School of Public Health, Seoul National University, Seoul</wicri:regionArea>
<placeName><settlement type="city">Séoul</settlement>
<region type="capital">Région capitale de Séoul</region>
<settlement type="city">Séoul</settlement>
</placeName>
<orgName type="university">Université nationale de Séoul</orgName>
</affiliation>
</author>
<author><name sortKey="Feng, Bing J" sort="Feng, Bing J" uniqKey="Feng B" first="Bing J." last="Feng">Bing J. Feng</name>
<affiliation wicri:level="2"><nlm:aff id="A14">Huntsman Cancer Institute, University of Utah Health Sciences Center, Salt Lake City, UT 84112, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Huntsman Cancer Institute, University of Utah Health Sciences Center, Salt Lake City, UT 84112</wicri:regionArea>
<placeName><region type="state">Utah</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A20">Department of Dermatology, University of Utah School of Medicine, Salt Lake City, UT 84132 USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Utah</region>
</placeName>
<wicri:cityArea>Department of Dermatology, University of Utah School of Medicine, Salt Lake City</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Lesueur, Fabienne" sort="Lesueur, Fabienne" uniqKey="Lesueur F" first="Fabienne" last="Lesueur">Fabienne Lesueur</name>
<affiliation wicri:level="3"><nlm:aff id="A3">Genetic Cancer Susceptibility Group, International Agency for Research on Cancer, 69372 Lyon, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Genetic Cancer Susceptibility Group, International Agency for Research on Cancer, 69372 Lyon</wicri:regionArea>
<placeName><region type="region" nuts="2">Auvergne-Rhône-Alpes</region>
<region type="old region" nuts="2">Rhône-Alpes</region>
<settlement type="city">Lyon</settlement>
</placeName>
</affiliation>
<affiliation><nlm:aff id="A21">Genetic Epidemiology of Cancer Team, Inserm, U900, Institut Curie, Mines ParisTech</nlm:aff>
<wicri:noCountry code="subfield">Mines ParisTech</wicri:noCountry>
</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="2"><nlm:aff id="A2">Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT 84112, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT 84112</wicri:regionArea>
<placeName><region type="state">Utah</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="A1">Genetic Epidemiology Laboratory, The University of Melbourne, Victoria 3010, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Genetic Epidemiology Laboratory, The University of Melbourne, Victoria 3010</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="Goldgar, David E" sort="Goldgar, David E" uniqKey="Goldgar D" first="David E." last="Goldgar">David E. Goldgar</name>
<affiliation wicri:level="2"><nlm:aff id="A14">Huntsman Cancer Institute, University of Utah Health Sciences Center, Salt Lake City, UT 84112, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Huntsman Cancer Institute, University of Utah Health Sciences Center, Salt Lake City, UT 84112</wicri:regionArea>
<placeName><region type="state">Utah</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A20">Department of Dermatology, University of Utah School of Medicine, Salt Lake City, UT 84132 USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Utah</region>
</placeName>
<wicri:cityArea>Department of Dermatology, University of Utah School of Medicine, Salt Lake City</wicri:cityArea>
</affiliation>
</author>
</analytic>
<series><title level="j">Cancer discovery</title>
<idno type="ISSN">2159-8274</idno>
<idno type="eISSN">2159-8290</idno>
<imprint><date when="2014">2014</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Breast Neoplasms (genetics)</term>
<term>Case-Control Studies</term>
<term>Cell Cycle Proteins (genetics)</term>
<term>Colorectal Neoplasms, Hereditary Nonpolyposis (genetics)</term>
<term>Exome</term>
<term>Female</term>
<term>Genetic Predisposition to Disease</term>
<term>Genetic Variation</term>
<term>High-Throughput Nucleotide Sequencing</term>
<term>Humans</term>
<term>Male</term>
<term>Mutation</term>
<term>Pedigree</term>
<term>Sequence Analysis, DNA</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Analyse de séquence d'ADN</term>
<term>Exome</term>
<term>Femelle</term>
<term>Humains</term>
<term>Mutation</term>
<term>Mâle</term>
<term>Pedigree</term>
<term>Protéines du cycle cellulaire (génétique)</term>
<term>Prédisposition génétique à une maladie</term>
<term>Séquençage nucléotidique à haut débit</term>
<term>Tumeurs colorectales héréditaires sans polypose (génétique)</term>
<term>Tumeurs du sein (génétique)</term>
<term>Variation génétique</term>
<term>Études cas-témoins</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Cell Cycle Proteins</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Breast Neoplasms</term>
<term>Colorectal Neoplasms, Hereditary Nonpolyposis</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Protéines du cycle cellulaire</term>
<term>Tumeurs colorectales héréditaires sans polypose</term>
<term>Tumeurs du sein</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Case-Control Studies</term>
<term>Exome</term>
<term>Female</term>
<term>Genetic Predisposition to Disease</term>
<term>Genetic Variation</term>
<term>High-Throughput Nucleotide Sequencing</term>
<term>Humans</term>
<term>Male</term>
<term>Mutation</term>
<term>Pedigree</term>
<term>Sequence Analysis, DNA</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Analyse de séquence d'ADN</term>
<term>Exome</term>
<term>Femelle</term>
<term>Humains</term>
<term>Mutation</term>
<term>Mâle</term>
<term>Pedigree</term>
<term>Prédisposition génétique à une maladie</term>
<term>Séquençage nucléotidique à haut débit</term>
<term>Variation génétique</term>
<term>Études cas-témoins</term>
</keywords>
</textClass>
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<front><div type="abstract" xml:lang="en"><p id="P1">Approximately half of the familial aggregation of breast cancer remains unexplained. A multiple-case breast cancer family exome sequencing study identified three likely pathogenic mutations in <italic>RINT1</italic>
 (NM_021930.4) not present in public sequencing databases: <italic>RINT1</italic>
 c.343C>T (p.Q115X), c.1132_1134del (p.M378del) and c.1207G>T (p.D403Y). Based on this finding, a population-based case-control mutation-screening study was conducted and identified 29 carriers of rare (MAF < 0.5%), likely pathogenic variants: 23 in 1,313 early-onset breast cancer cases and 6 in 1,123 frequency-matched controls (OR=3.24, 95%CI 1.29-8.17; p=0.013). <italic>RINT1</italic>
 mutation screening of probands from 798 multiple-case breast cancer families identified 4additional carriers of rare genetic variants. Analysis of the incidence of first primary cancers in families of women in <italic>RINT1</italic>
-mutation carrying families estimated that carriers were at increased risks of Lynch syndrome-spectrum cancers (SIR 3.35, 95% CI 1.7-6.0; P=0.005), particularly for relatives diagnosed with cancer under age 60 years (SIR 10.9, 95%CI 4.7-21; P=0.0003).</p>
</div>
</front>
</TEI>
<affiliations><list><country><li>Australie</li>
<li>Canada</li>
<li>Corée du Sud</li>
<li>France</li>
<li>Pays-Bas</li>
<li>États-Unis</li>
</country>
<region><li>Auvergne-Rhône-Alpes</li>
<li>Californie</li>
<li>Hollande-Méridionale</li>
<li>Nebraska</li>
<li>Pennsylvanie</li>
<li>Rhône-Alpes</li>
<li>Région capitale de Séoul</li>
<li>Texas</li>
<li>Utah</li>
<li>Victoria (État)</li>
<li>État de New York</li>
</region>
<settlement><li>Austin (Texas)</li>
<li>Leyde</li>
<li>Lyon</li>
<li>Melbourne</li>
<li>New York</li>
<li>Séoul</li>
</settlement>
<orgName><li>Université Columbia</li>
<li>Université de Melbourne</li>
<li>Université du Texas à Austin</li>
<li>Université nationale de Séoul</li>
</orgName>
</list>
<tree><country name="Australie"><region name="Victoria (État)"><name sortKey="Park, Daniel J" sort="Park, Daniel J" uniqKey="Park D" first="Daniel J." last="Park">Daniel J. Park</name>
</region>
<name sortKey="Ellis, Jonathan" sort="Ellis, Jonathan" uniqKey="Ellis J" first="Jonathan" last="Ellis">Jonathan Ellis</name>
<name sortKey="Giles, Graham G" sort="Giles, Graham G" uniqKey="Giles G" first="Graham G." last="Giles">Graham G. Giles</name>
<name sortKey="Giles, Graham G" sort="Giles, Graham G" uniqKey="Giles G" first="Graham G." last="Giles">Graham G. Giles</name>
<name sortKey="Hammet, Fleur" sort="Hammet, Fleur" uniqKey="Hammet F" first="Fleur" last="Hammet">Fleur Hammet</name>
<name sortKey="Hopper, John L" sort="Hopper, John L" uniqKey="Hopper J" first="John L." last="Hopper">John L. Hopper</name>
<name sortKey="Li, Jun" sort="Li, Jun" uniqKey="Li J" first="Jun" last="Li">Jun Li</name>
<name sortKey="Lonie, Andrew" sort="Lonie, Andrew" uniqKey="Lonie A" first="Andrew" last="Lonie">Andrew Lonie</name>
<name sortKey="Makunin, Igor V" sort="Makunin, Igor V" uniqKey="Makunin I" first="Igor V." last="Makunin">Igor V. Makunin</name>
<name sortKey="Nguyen Dumont, Tu" sort="Nguyen Dumont, Tu" uniqKey="Nguyen Dumont T" first="Tu" last="Nguyen-Dumont">Tu Nguyen-Dumont</name>
<name sortKey="Odefrey, Fabrice" sort="Odefrey, Fabrice" uniqKey="Odefrey F" first="Fabrice" last="Odefrey">Fabrice Odefrey</name>
<name sortKey="Pope, Bernard J" sort="Pope, Bernard J" uniqKey="Pope B" first="Bernard J." last="Pope">Bernard J. Pope</name>
<name sortKey="Pope, Bernard J" sort="Pope, Bernard J" uniqKey="Pope B" first="Bernard J." last="Pope">Bernard J. Pope</name>
<name sortKey="Southey, Melissa C" sort="Southey, Melissa C" uniqKey="Southey M" first="Melissa C." last="Southey">Melissa C. Southey</name>
<name sortKey="Teo, Zhi L" sort="Teo, Zhi L" uniqKey="Teo Z" first="Zhi L." last="Teo">Zhi L. Teo</name>
<name sortKey="Thingholm, Louise B" sort="Thingholm, Louise B" uniqKey="Thingholm L" first="Louise B." last="Thingholm">Louise B. Thingholm</name>
<name sortKey="Tsimiklis, Helen" sort="Tsimiklis, Helen" uniqKey="Tsimiklis H" first="Helen" last="Tsimiklis">Helen Tsimiklis</name>
</country>
<country name="États-Unis"><region name="Utah"><name sortKey="Tao, Kayoko" sort="Tao, Kayoko" uniqKey="Tao K" first="Kayoko" last="Tao">Kayoko Tao</name>
</region>
<name sortKey="Bell, Russell" sort="Bell, Russell" uniqKey="Bell R" first="Russell" last="Bell">Russell Bell</name>
<name sortKey="Buys, Saundra S" sort="Buys, Saundra S" uniqKey="Buys S" first="Saundra S." last="Buys">Saundra S. Buys</name>
<name sortKey="Daly, Mary" sort="Daly, Mary" uniqKey="Daly M" first="Mary" last="Daly">Mary Daly</name>
<name sortKey="Feng, Bing J" sort="Feng, Bing J" uniqKey="Feng B" first="Bing J." last="Feng">Bing J. Feng</name>
<name sortKey="Feng, Bing J" sort="Feng, Bing J" uniqKey="Feng B" first="Bing J." last="Feng">Bing J. Feng</name>
<name sortKey="Goldgar, David E" sort="Goldgar, David E" uniqKey="Goldgar D" first="David E." last="Goldgar">David E. Goldgar</name>
<name sortKey="Goldgar, David E" sort="Goldgar, David E" uniqKey="Goldgar D" first="David E." last="Goldgar">David E. Goldgar</name>
<name sortKey="Hu, Hao" sort="Hu, Hao" uniqKey="Hu H" first="Hao" last="Hu">Hao Hu</name>
<name sortKey="Huff, Chad D" sort="Huff, Chad D" uniqKey="Huff C" first="Chad D." last="Huff">Chad D. Huff</name>
<name sortKey="John, Esther M" sort="John, Esther M" uniqKey="John E" first="Esther M." last="John">Esther M. John</name>
<name sortKey="John, Esther M" sort="John, Esther M" uniqKey="John E" first="Esther M." last="John">Esther M. John</name>
<name sortKey="Lynch, Henry T" sort="Lynch, Henry T" uniqKey="Lynch H" first="Henry T." last="Lynch">Henry T. Lynch</name>
<name sortKey="Roane, Terrell C" sort="Roane, Terrell C" uniqKey="Roane T" first="Terrell C." last="Roane">Terrell C. Roane</name>
<name sortKey="Snyder, Carrie" sort="Snyder, Carrie" uniqKey="Snyder C" first="Carrie" last="Snyder">Carrie Snyder</name>
<name sortKey="Tavtigian, Sean V" sort="Tavtigian, Sean V" uniqKey="Tavtigian S" first="Sean V." last="Tavtigian">Sean V. Tavtigian</name>
<name sortKey="Terry, Mary B" sort="Terry, Mary B" uniqKey="Terry M" first="Mary B." last="Terry">Mary B. Terry</name>
<name sortKey="Young, Erin L" sort="Young, Erin L" uniqKey="Young E" first="Erin L." last="Young">Erin L. Young</name>
</country>
<country name="France"><region name="Auvergne-Rhône-Alpes"><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>
</region>
<name sortKey="Lesueur, Fabienne" sort="Lesueur, Fabienne" uniqKey="Lesueur F" first="Fabienne" last="Lesueur">Fabienne Lesueur</name>
<name sortKey="Robinot, Nivonirina" sort="Robinot, Nivonirina" uniqKey="Robinot N" first="Nivonirina" last="Robinot">Nivonirina Robinot</name>
<name sortKey="Voegele, Catherine" sort="Voegele, Catherine" uniqKey="Voegele C" first="Catherine" last="Voegele">Catherine Voegele</name>
</country>
<country name="Canada"><noRegion><name sortKey="Andrulis, Irene L" sort="Andrulis, Irene L" uniqKey="Andrulis I" first="Irene L." last="Andrulis">Irene L. Andrulis</name>
</noRegion>
</country>
<country name="Pays-Bas"><region name="Hollande-Méridionale"><name sortKey="Devilee, Peter" sort="Devilee, Peter" uniqKey="Devilee P" first="Peter" last="Devilee">Peter Devilee</name>
</region>
</country>
<country name="Corée du Sud"><region name="Région capitale de Séoul"><name sortKey="Hopper, John L" sort="Hopper, John L" uniqKey="Hopper J" first="John L." last="Hopper">John L. Hopper</name>
</region>
</country>
</tree>
</affiliations>
</record>

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Serveur d'exploration sur les relations entre la France et l'Australie

Rare mutations in RINT1 predispose carriers to breast and Lynch Syndrome-spectrum cancers

Rare mutations in RINT1 predispose carriers to breast and Lynch Syndrome-spectrum cancers

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	Serveur d'exploration sur les relations entre la France et l'Australie
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