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

Identifieur interne : 003640 ( PubMed/Corpus ); précédent : 003639; suivant : 003641

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

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

Source :

RBID : pubmed:25050558

English descriptors

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). On the basis of this finding, a population-based case-control mutation-screening study was conducted that identified 29 carriers of rare (minor allele frequency < 0.5%), likely pathogenic variants: 23 in 1,313 early-onset breast cancer cases and six in 1,123 frequency-matched controls [OR, 3.24; 95% confidence interval (CI), 1.29-8.17; P = 0.013]. RINT1 mutation screening of probands from 798 multiple-case breast cancer families identified four additional carriers of rare genetic variants. Analysis of the incidence of first primary cancers in families of women carrying RINT1 mutations estimated that carriers were at increased risk of Lynch syndrome-spectrum cancers [standardized incidence ratio (SIR), 3.35; 95% CI, 1.7-6.0; P = 0.005], particularly for relatives diagnosed with cancer under the age of 60 years (SIR, 10.9; 95% CI, 4.7-21; P = 0.0003).

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

Links to Exploration step

pubmed:25050558

Le document en format XML

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<name sortKey="Robinot, Nivonirina" sort="Robinot, Nivonirina" uniqKey="Robinot N" first="Nivonirina" last="Robinot">Nivonirina Robinot</name>
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<name sortKey="Hammet, Fleur" sort="Hammet, Fleur" uniqKey="Hammet F" first="Fleur" last="Hammet">Fleur Hammet</name>
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<name sortKey="Thingholm, Louise B" sort="Thingholm, Louise B" uniqKey="Thingholm L" first="Louise B" last="Thingholm">Louise B. Thingholm</name>
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<name sortKey="Young, Erin L" sort="Young, Erin L" uniqKey="Young E" first="Erin L" last="Young">Erin L. Young</name>
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<name sortKey="Voegele, Catherine" sort="Voegele, Catherine" uniqKey="Voegele C" first="Catherine" last="Voegele">Catherine Voegele</name>
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<name sortKey="Lonie, Andrew" sort="Lonie, Andrew" uniqKey="Lonie A" first="Andrew" last="Lonie">Andrew Lonie</name>
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<name sortKey="Pope, Bernard J" sort="Pope, Bernard J" uniqKey="Pope B" first="Bernard J" last="Pope">Bernard J. Pope</name>
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<name sortKey="Roane, Terrell C" sort="Roane, Terrell C" uniqKey="Roane T" first="Terrell C" last="Roane">Terrell C. Roane</name>
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<name sortKey="Bell, Russell" sort="Bell, Russell" uniqKey="Bell R" first="Russell" last="Bell">Russell Bell</name>
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<name sortKey="Hu, Hao" sort="Hu, Hao" uniqKey="Hu H" first="Hao" last="Hu">Hao Hu</name>
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<name sortKey="Shankaracharya" sort="Shankaracharya" uniqKey="Shankaracharya" last="Shankaracharya">Shankaracharya</name>
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<nlm:affiliation>Department of Epidemiology, The University of Texas MD Anderson Cancer Center, Houston, Texas;</nlm:affiliation>
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<name sortKey="Huff, Chad D" sort="Huff, Chad D" uniqKey="Huff C" first="Chad D" last="Huff">Chad D. Huff</name>
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<name sortKey="Ellis, Jonathan" sort="Ellis, Jonathan" uniqKey="Ellis J" first="Jonathan" last="Ellis">Jonathan Ellis</name>
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<name sortKey="Li, Jun" sort="Li, Jun" uniqKey="Li J" first="Jun" last="Li">Jun Li</name>
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<name sortKey="Makunin, Igor V" sort="Makunin, Igor V" uniqKey="Makunin I" first="Igor V" last="Makunin">Igor V. Makunin</name>
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<nlm:affiliation>The QIMR Berghofer Medical Research Institute, Herston, Queensland, Australia; Departments of.</nlm:affiliation>
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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>
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<nlm:affiliation>Cancer Prevention Institute of California, Fremont; Department of Health Research and Policy, Stanford Cancer Institute, Stanford, California;</nlm:affiliation>
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<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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<name sortKey="Daly, Mary" sort="Daly, Mary" uniqKey="Daly M" first="Mary" last="Daly">Mary Daly</name>
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<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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<nlm:affiliation>Huntsman Cancer Institute, University of Utah Health Sciences Center, Salt Lake City, Utah;</nlm:affiliation>
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<name sortKey="Snyder, Carrie" sort="Snyder, Carrie" uniqKey="Snyder C" first="Carrie" last="Snyder">Carrie Snyder</name>
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<nlm:affiliation>Department of Preventive Medicine, Creighton University, Omaha, Nebraska;</nlm:affiliation>
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<name sortKey="Lynch, Henry T" sort="Lynch, Henry T" uniqKey="Lynch H" first="Henry T" last="Lynch">Henry T. Lynch</name>
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<nlm:affiliation>Department of Preventive Medicine, Creighton University, Omaha, Nebraska;</nlm:affiliation>
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<name sortKey="Devilee, Peter" sort="Devilee, Peter" uniqKey="Devilee P" first="Peter" last="Devilee">Peter Devilee</name>
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<nlm:affiliation>Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands; and.</nlm:affiliation>
</affiliation>
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<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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<nlm:affiliation>Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne; Centre for Cancer Epidemiology, The Cancer Council Victoria, Carlton, Victoria;</nlm:affiliation>
</affiliation>
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<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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<nlm:affiliation>Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne; School of Public Health, Seoul National University, Seoul, Korea.</nlm:affiliation>
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<name sortKey="Feng, Bing Jian" sort="Feng, Bing Jian" uniqKey="Feng B" first="Bing-Jian" last="Feng">Bing-Jian Feng</name>
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<nlm:affiliation>Dermatology, Huntsman Cancer Institute, University of Utah School of Medicine; Huntsman Cancer Institute, University of Utah Health Sciences Center, Salt Lake City, Utah;</nlm:affiliation>
</affiliation>
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<name sortKey="Lesueur, Fabienne" sort="Lesueur, Fabienne" uniqKey="Lesueur F" first="Fabienne" last="Lesueur">Fabienne Lesueur</name>
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<nlm:affiliation>Genetic Cancer Susceptibility Group, International Agency for Research on Cancer, Lyon; Genetic Epidemiology of Cancer Team, Institut National de la Santé et de la Recherche Medicale (INSERM), U900, Institut Curie, Mines ParisTech, Paris, France;</nlm:affiliation>
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<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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<nlm:affiliation>Oncological Sciences and.</nlm:affiliation>
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<name sortKey="Southey, Melissa C" sort="Southey, Melissa C" uniqKey="Southey M" first="Melissa C" last="Southey">Melissa C. Southey</name>
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<nlm:affiliation>Genetic Epidemiology Laboratory, Department of Pathology; msouthey@unimelb.edu.au david.goldgar@hsc.utah.edu.</nlm:affiliation>
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<name sortKey="Goldgar, David E" sort="Goldgar, David E" uniqKey="Goldgar D" first="David E" last="Goldgar">David E. Goldgar</name>
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<nlm:affiliation>Dermatology, Huntsman Cancer Institute, University of Utah School of Medicine; Huntsman Cancer Institute, University of Utah Health Sciences Center, Salt Lake City, Utah; msouthey@unimelb.edu.au david.goldgar@hsc.utah.edu.</nlm:affiliation>
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<title xml:lang="en">Rare mutations in RINT1 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>
<affiliation>
<nlm:affiliation>Genetic Epidemiology Laboratory, Department of Pathology;</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Tao, Kayoko" sort="Tao, Kayoko" uniqKey="Tao K" first="Kayoko" last="Tao">Kayoko Tao</name>
<affiliation>
<nlm:affiliation>Oncological Sciences and.</nlm:affiliation>
</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>
<nlm:affiliation>Genetic Cancer Susceptibility Group, International Agency for Research on Cancer, Lyon;</nlm:affiliation>
</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>
<nlm:affiliation>Genetic Epidemiology Laboratory, Department of Pathology;</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Robinot, Nivonirina" sort="Robinot, Nivonirina" uniqKey="Robinot N" first="Nivonirina" last="Robinot">Nivonirina Robinot</name>
<affiliation>
<nlm:affiliation>Genetic Cancer Susceptibility Group, International Agency for Research on Cancer, Lyon;</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Hammet, Fleur" sort="Hammet, Fleur" uniqKey="Hammet F" first="Fleur" last="Hammet">Fleur Hammet</name>
<affiliation>
<nlm:affiliation>Genetic Epidemiology Laboratory, Department of Pathology;</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Odefrey, Fabrice" sort="Odefrey, Fabrice" uniqKey="Odefrey F" first="Fabrice" last="Odefrey">Fabrice Odefrey</name>
<affiliation>
<nlm:affiliation>Genetic Epidemiology Laboratory, Department of Pathology;</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Tsimiklis, Helen" sort="Tsimiklis, Helen" uniqKey="Tsimiklis H" first="Helen" last="Tsimiklis">Helen Tsimiklis</name>
<affiliation>
<nlm:affiliation>Genetic Epidemiology Laboratory, Department of Pathology;</nlm:affiliation>
</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>
<nlm:affiliation>Genetic Epidemiology Laboratory, Department of Pathology;</nlm:affiliation>
</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>
<nlm:affiliation>Genetic Epidemiology Laboratory, Department of Pathology;</nlm:affiliation>
</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>
<nlm:affiliation>Oncological Sciences and.</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Voegele, Catherine" sort="Voegele, Catherine" uniqKey="Voegele C" first="Catherine" last="Voegele">Catherine Voegele</name>
<affiliation>
<nlm:affiliation>Genetic Cancer Susceptibility Group, International Agency for Research on Cancer, Lyon;</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Lonie, Andrew" sort="Lonie, Andrew" uniqKey="Lonie A" first="Andrew" last="Lonie">Andrew Lonie</name>
<affiliation>
<nlm:affiliation>Victorian Life Sciences Computation Initiative;</nlm:affiliation>
</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>
<nlm:affiliation>Department of Computing and Information Systems; Victorian Life Sciences Computation Initiative;</nlm:affiliation>
</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>
<nlm:affiliation>University of Texas at Austin, Austin;</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Bell, Russell" sort="Bell, Russell" uniqKey="Bell R" first="Russell" last="Bell">Russell Bell</name>
<affiliation>
<nlm:affiliation>Oncological Sciences and.</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Hu, Hao" sort="Hu, Hao" uniqKey="Hu H" first="Hao" last="Hu">Hao Hu</name>
<affiliation>
<nlm:affiliation>Department of Epidemiology, The University of Texas MD Anderson Cancer Center, Houston, Texas;</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Shankaracharya" sort="Shankaracharya" uniqKey="Shankaracharya" last="Shankaracharya">Shankaracharya</name>
<affiliation>
<nlm:affiliation>Department of Epidemiology, The University of Texas MD Anderson Cancer Center, Houston, Texas;</nlm:affiliation>
</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>
<nlm:affiliation>Department of Epidemiology, The University of Texas MD Anderson Cancer Center, Houston, Texas;</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Ellis, Jonathan" sort="Ellis, Jonathan" uniqKey="Ellis J" first="Jonathan" last="Ellis">Jonathan Ellis</name>
<affiliation>
<nlm:affiliation>The QIMR Berghofer Medical Research Institute, Herston, Queensland, Australia; Departments of.</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Li, Jun" sort="Li, Jun" uniqKey="Li J" first="Jun" last="Li">Jun Li</name>
<affiliation>
<nlm:affiliation>The QIMR Berghofer Medical Research Institute, Herston, Queensland, Australia; Departments of.</nlm:affiliation>
</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>
<nlm:affiliation>The QIMR Berghofer Medical Research Institute, Herston, Queensland, Australia; Departments of.</nlm:affiliation>
</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>
<nlm:affiliation>Cancer Prevention Institute of California, Fremont; Department of Health Research and Policy, Stanford Cancer Institute, Stanford, California;</nlm:affiliation>
</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>
<nlm:affiliation>Department of Molecular Genetics, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada;</nlm:affiliation>
</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>
<nlm:affiliation>Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, New York;</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Daly, Mary" sort="Daly, Mary" uniqKey="Daly M" first="Mary" last="Daly">Mary Daly</name>
<affiliation>
<nlm:affiliation>Fox Chase Cancer Center, Philadelphia, Pennsylvania;</nlm:affiliation>
</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>
<nlm:affiliation>Huntsman Cancer Institute, University of Utah Health Sciences Center, Salt Lake City, Utah;</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Snyder, Carrie" sort="Snyder, Carrie" uniqKey="Snyder C" first="Carrie" last="Snyder">Carrie Snyder</name>
<affiliation>
<nlm:affiliation>Department of Preventive Medicine, Creighton University, Omaha, Nebraska;</nlm:affiliation>
</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>
<nlm:affiliation>Department of Preventive Medicine, Creighton University, Omaha, Nebraska;</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Devilee, Peter" sort="Devilee, Peter" uniqKey="Devilee P" first="Peter" last="Devilee">Peter Devilee</name>
<affiliation>
<nlm:affiliation>Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands; and.</nlm:affiliation>
</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>
<nlm:affiliation>Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne; Centre for Cancer Epidemiology, The Cancer Council Victoria, Carlton, Victoria;</nlm:affiliation>
</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>
<nlm:affiliation>Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne; School of Public Health, Seoul National University, Seoul, Korea.</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Feng, Bing Jian" sort="Feng, Bing Jian" uniqKey="Feng B" first="Bing-Jian" last="Feng">Bing-Jian Feng</name>
<affiliation>
<nlm:affiliation>Dermatology, Huntsman Cancer Institute, University of Utah School of Medicine; Huntsman Cancer Institute, University of Utah Health Sciences Center, Salt Lake City, Utah;</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Lesueur, Fabienne" sort="Lesueur, Fabienne" uniqKey="Lesueur F" first="Fabienne" last="Lesueur">Fabienne Lesueur</name>
<affiliation>
<nlm:affiliation>Genetic Cancer Susceptibility Group, International Agency for Research on Cancer, Lyon; Genetic Epidemiology of Cancer Team, Institut National de la Santé et de la Recherche Medicale (INSERM), U900, Institut Curie, Mines ParisTech, Paris, France;</nlm:affiliation>
</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>
<nlm:affiliation>Oncological Sciences and.</nlm:affiliation>
</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>
<nlm:affiliation>Genetic Epidemiology Laboratory, Department of Pathology; msouthey@unimelb.edu.au david.goldgar@hsc.utah.edu.</nlm:affiliation>
</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>
<nlm:affiliation>Dermatology, Huntsman Cancer Institute, University of Utah School of Medicine; Huntsman Cancer Institute, University of Utah Health Sciences Center, Salt Lake City, Utah; msouthey@unimelb.edu.au david.goldgar@hsc.utah.edu.</nlm:affiliation>
</affiliation>
</author>
</analytic>
<series>
<title level="j">Cancer discovery</title>
<idno type="eISSN">2159-8290</idno>
<imprint>
<date when="2014" type="published">2014</date>
</imprint>
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<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="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" 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>
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<front>
<div type="abstract" xml:lang="en">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). On the basis of this finding, a population-based case-control mutation-screening study was conducted that identified 29 carriers of rare (minor allele frequency < 0.5%), likely pathogenic variants: 23 in 1,313 early-onset breast cancer cases and six in 1,123 frequency-matched controls [OR, 3.24; 95% confidence interval (CI), 1.29-8.17; P = 0.013]. RINT1 mutation screening of probands from 798 multiple-case breast cancer families identified four additional carriers of rare genetic variants. Analysis of the incidence of first primary cancers in families of women carrying RINT1 mutations estimated that carriers were at increased risk of Lynch syndrome-spectrum cancers [standardized incidence ratio (SIR), 3.35; 95% CI, 1.7-6.0; P = 0.005], particularly for relatives diagnosed with cancer under the age of 60 years (SIR, 10.9; 95% CI, 4.7-21; P = 0.0003).</div>
</front>
</TEI>
<pubmed>
<MedlineCitation Status="MEDLINE" Owner="NLM">
<PMID Version="1">25050558</PMID>
<DateCreated>
<Year>2014</Year>
<Month>07</Month>
<Day>23</Day>
</DateCreated>
<DateCompleted>
<Year>2015</Year>
<Month>02</Month>
<Day>24</Day>
</DateCompleted>
<DateRevised>
<Year>2016</Year>
<Month>10</Month>
<Day>19</Day>
</DateRevised>
<Article PubModel="Print-Electronic">
<Journal>
<ISSN IssnType="Electronic">2159-8290</ISSN>
<JournalIssue CitedMedium="Internet">
<Volume>4</Volume>
<Issue>7</Issue>
<PubDate>
<Year>2014</Year>
<Month>Jul</Month>
</PubDate>
</JournalIssue>
<Title>Cancer discovery</Title>
<ISOAbbreviation>Cancer Discov</ISOAbbreviation>
</Journal>
<ArticleTitle>Rare mutations in RINT1 predispose carriers to breast and Lynch syndrome-spectrum cancers.</ArticleTitle>
<Pagination>
<MedlinePgn>804-15</MedlinePgn>
</Pagination>
<ELocationID EIdType="doi" ValidYN="Y">10.1158/2159-8290.CD-14-0212</ELocationID>
<Abstract>
<AbstractText Label="UNLABELLED">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). On the basis of this finding, a population-based case-control mutation-screening study was conducted that identified 29 carriers of rare (minor allele frequency < 0.5%), likely pathogenic variants: 23 in 1,313 early-onset breast cancer cases and six in 1,123 frequency-matched controls [OR, 3.24; 95% confidence interval (CI), 1.29-8.17; P = 0.013]. RINT1 mutation screening of probands from 798 multiple-case breast cancer families identified four additional carriers of rare genetic variants. Analysis of the incidence of first primary cancers in families of women carrying RINT1 mutations estimated that carriers were at increased risk of Lynch syndrome-spectrum cancers [standardized incidence ratio (SIR), 3.35; 95% CI, 1.7-6.0; P = 0.005], particularly for relatives diagnosed with cancer under the age of 60 years (SIR, 10.9; 95% CI, 4.7-21; P = 0.0003).</AbstractText>
<AbstractText Label="SIGNIFICANCE" NlmCategory="CONCLUSIONS">The work described in this study adds RINT1 to the growing list of genes in which rare sequence variants are associated with intermediate levels of breast cancer risk. Given that RINT1 is also associated with a spectrum of cancers with mismatch repair defects, these findings have clinical applications and raise interesting biological questions.</AbstractText>
<CopyrightInformation>©2014 American Association for Cancer Research.</CopyrightInformation>
</Abstract>
<AuthorList CompleteYN="Y">
<Author ValidYN="Y">
<LastName>Park</LastName>
<ForeName>Daniel J</ForeName>
<Initials>DJ</Initials>
<AffiliationInfo>
<Affiliation>Genetic Epidemiology Laboratory, Department of Pathology;</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Tao</LastName>
<ForeName>Kayoko</ForeName>
<Initials>K</Initials>
<AffiliationInfo>
<Affiliation>Oncological Sciences and.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Le Calvez-Kelm</LastName>
<ForeName>Florence</ForeName>
<Initials>F</Initials>
<AffiliationInfo>
<Affiliation>Genetic Cancer Susceptibility Group, International Agency for Research on Cancer, Lyon;</Affiliation>
</AffiliationInfo>
</Author>
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<LastName>Nguyen-Dumont</LastName>
<ForeName>Tu</ForeName>
<Initials>T</Initials>
<AffiliationInfo>
<Affiliation>Genetic Epidemiology Laboratory, Department of Pathology;</Affiliation>
</AffiliationInfo>
</Author>
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<LastName>Robinot</LastName>
<ForeName>Nivonirina</ForeName>
<Initials>N</Initials>
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<Affiliation>Genetic Cancer Susceptibility Group, International Agency for Research on Cancer, Lyon;</Affiliation>
</AffiliationInfo>
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<LastName>Hammet</LastName>
<ForeName>Fleur</ForeName>
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</AffiliationInfo>
</Author>
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<LastName>Odefrey</LastName>
<ForeName>Fabrice</ForeName>
<Initials>F</Initials>
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<Affiliation>Genetic Epidemiology Laboratory, Department of Pathology;</Affiliation>
</AffiliationInfo>
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<LastName>Tsimiklis</LastName>
<ForeName>Helen</ForeName>
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<Affiliation>Genetic Epidemiology Laboratory, Department of Pathology;</Affiliation>
</AffiliationInfo>
</Author>
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<LastName>Teo</LastName>
<ForeName>Zhi L</ForeName>
<Initials>ZL</Initials>
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<Affiliation>Genetic Epidemiology Laboratory, Department of Pathology;</Affiliation>
</AffiliationInfo>
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</AffiliationInfo>
</Author>
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<LastName>Young</LastName>
<ForeName>Erin L</ForeName>
<Initials>EL</Initials>
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</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Voegele</LastName>
<ForeName>Catherine</ForeName>
<Initials>C</Initials>
<AffiliationInfo>
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</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Lonie</LastName>
<ForeName>Andrew</ForeName>
<Initials>A</Initials>
<AffiliationInfo>
<Affiliation>Victorian Life Sciences Computation Initiative;</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Pope</LastName>
<ForeName>Bernard J</ForeName>
<Initials>BJ</Initials>
<AffiliationInfo>
<Affiliation>Department of Computing and Information Systems; Victorian Life Sciences Computation Initiative;</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Roane</LastName>
<ForeName>Terrell C</ForeName>
<Initials>TC</Initials>
<AffiliationInfo>
<Affiliation>University of Texas at Austin, Austin;</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Bell</LastName>
<ForeName>Russell</ForeName>
<Initials>R</Initials>
<AffiliationInfo>
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</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Hu</LastName>
<ForeName>Hao</ForeName>
<Initials>H</Initials>
<AffiliationInfo>
<Affiliation>Department of Epidemiology, The University of Texas MD Anderson Cancer Center, Houston, Texas;</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Shankaracharya</LastName>
<AffiliationInfo>
<Affiliation>Department of Epidemiology, The University of Texas MD Anderson Cancer Center, Houston, Texas;</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Huff</LastName>
<ForeName>Chad D</ForeName>
<Initials>CD</Initials>
<AffiliationInfo>
<Affiliation>Department of Epidemiology, The University of Texas MD Anderson Cancer Center, Houston, Texas;</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Ellis</LastName>
<ForeName>Jonathan</ForeName>
<Initials>J</Initials>
<AffiliationInfo>
<Affiliation>The QIMR Berghofer Medical Research Institute, Herston, Queensland, Australia; Departments of.</Affiliation>
</AffiliationInfo>
</Author>
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<LastName>Li</LastName>
<ForeName>Jun</ForeName>
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<AffiliationInfo>
<Affiliation>The QIMR Berghofer Medical Research Institute, Herston, Queensland, Australia; Departments of.</Affiliation>
</AffiliationInfo>
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<LastName>Makunin</LastName>
<ForeName>Igor V</ForeName>
<Initials>IV</Initials>
<AffiliationInfo>
<Affiliation>The QIMR Berghofer Medical Research Institute, Herston, Queensland, Australia; Departments of.</Affiliation>
</AffiliationInfo>
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<LastName>John</LastName>
<ForeName>Esther M</ForeName>
<Initials>EM</Initials>
<AffiliationInfo>
<Affiliation>Cancer Prevention Institute of California, Fremont; Department of Health Research and Policy, Stanford Cancer Institute, Stanford, California;</Affiliation>
</AffiliationInfo>
</Author>
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<LastName>Andrulis</LastName>
<ForeName>Irene L</ForeName>
<Initials>IL</Initials>
<AffiliationInfo>
<Affiliation>Department of Molecular Genetics, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada;</Affiliation>
</AffiliationInfo>
</Author>
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<LastName>Terry</LastName>
<ForeName>Mary B</ForeName>
<Initials>MB</Initials>
<AffiliationInfo>
<Affiliation>Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, New York;</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Daly</LastName>
<ForeName>Mary</ForeName>
<Initials>M</Initials>
<AffiliationInfo>
<Affiliation>Fox Chase Cancer Center, Philadelphia, Pennsylvania;</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Buys</LastName>
<ForeName>Saundra S</ForeName>
<Initials>SS</Initials>
<AffiliationInfo>
<Affiliation>Huntsman Cancer Institute, University of Utah Health Sciences Center, Salt Lake City, Utah;</Affiliation>
</AffiliationInfo>
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<LastName>Snyder</LastName>
<ForeName>Carrie</ForeName>
<Initials>C</Initials>
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<Affiliation>Department of Preventive Medicine, Creighton University, Omaha, Nebraska;</Affiliation>
</AffiliationInfo>
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<LastName>Lynch</LastName>
<ForeName>Henry T</ForeName>
<Initials>HT</Initials>
<AffiliationInfo>
<Affiliation>Department of Preventive Medicine, Creighton University, Omaha, Nebraska;</Affiliation>
</AffiliationInfo>
</Author>
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<LastName>Devilee</LastName>
<ForeName>Peter</ForeName>
<Initials>P</Initials>
<AffiliationInfo>
<Affiliation>Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands; and.</Affiliation>
</AffiliationInfo>
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<LastName>Giles</LastName>
<ForeName>Graham G</ForeName>
<Initials>GG</Initials>
<AffiliationInfo>
<Affiliation>Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne; Centre for Cancer Epidemiology, The Cancer Council Victoria, Carlton, Victoria;</Affiliation>
</AffiliationInfo>
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<LastName>Hopper</LastName>
<ForeName>John L</ForeName>
<Initials>JL</Initials>
<AffiliationInfo>
<Affiliation>Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne; School of Public Health, Seoul National University, Seoul, Korea.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Feng</LastName>
<ForeName>Bing-Jian</ForeName>
<Initials>BJ</Initials>
<AffiliationInfo>
<Affiliation>Dermatology, Huntsman Cancer Institute, University of Utah School of Medicine; Huntsman Cancer Institute, University of Utah Health Sciences Center, Salt Lake City, Utah;</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Lesueur</LastName>
<ForeName>Fabienne</ForeName>
<Initials>F</Initials>
<AffiliationInfo>
<Affiliation>Genetic Cancer Susceptibility Group, International Agency for Research on Cancer, Lyon; Genetic Epidemiology of Cancer Team, Institut National de la Santé et de la Recherche Medicale (INSERM), U900, Institut Curie, Mines ParisTech, Paris, France;</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Tavtigian</LastName>
<ForeName>Sean V</ForeName>
<Initials>SV</Initials>
<AffiliationInfo>
<Affiliation>Oncological Sciences and.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Southey</LastName>
<ForeName>Melissa C</ForeName>
<Initials>MC</Initials>
<AffiliationInfo>
<Affiliation>Genetic Epidemiology Laboratory, Department of Pathology; msouthey@unimelb.edu.au david.goldgar@hsc.utah.edu.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Goldgar</LastName>
<ForeName>David E</ForeName>
<Initials>DE</Initials>
<AffiliationInfo>
<Affiliation>Dermatology, Huntsman Cancer Institute, University of Utah School of Medicine; Huntsman Cancer Institute, University of Utah Health Sciences Center, Salt Lake City, Utah; msouthey@unimelb.edu.au david.goldgar@hsc.utah.edu.</Affiliation>
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<Grant>
<GrantID>U01 CA069638</GrantID>
<Acronym>CA</Acronym>
<Agency>NCI NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant>
<GrantID>R01 CA155767</GrantID>
<Acronym>CA</Acronym>
<Agency>NCI NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant>
<GrantID>P30 CA016672</GrantID>
<Acronym>CA</Acronym>
<Agency>NCI NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant>
<GrantID>UM1 CA164920</GrantID>
<Acronym>CA</Acronym>
<Agency>NCI NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant>
<GrantID>R01 CA121245</GrantID>
<Acronym>CA</Acronym>
<Agency>NCI NIH HHS</Agency>
<Country>United States</Country>
</Grant>
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<GrantID>P30CA042014</GrantID>
<Acronym>CA</Acronym>
<Agency>NCI NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant>
<Agency>Canadian Institutes of Health Research</Agency>
<Country>Canada</Country>
</Grant>
<Grant>
<GrantID>R01CA155767</GrantID>
<Acronym>CA</Acronym>
<Agency>NCI NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant>
<GrantID>P30 CA042014</GrantID>
<Acronym>CA</Acronym>
<Agency>NCI NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant>
<GrantID>R01CA121245</GrantID>
<Acronym>CA</Acronym>
<Agency>NCI NIH HHS</Agency>
<Country>United States</Country>
</Grant>
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<Year>2014</Year>
<Month>05</Month>
<Day>02</Day>
</ArticleDate>
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<MedlineTA>Cancer Discov</MedlineTA>
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<CommentsCorrectionsList>
<CommentsCorrections RefType="Cites">
<RefSource>J Natl Cancer Inst. 2013 Feb 20;105(4):274-9</RefSource>
<PMID Version="1">23385444</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites">
<RefSource>BMC Bioinformatics. 2013;14:65</RefSource>
<PMID Version="1">23441864</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites">
<RefSource>Nat Genet. 2013 Apr;45(4):353-61, 361e1-2</RefSource>
<PMID Version="1">23535729</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites">
<RefSource>Cancer Epidemiol Biomarkers Prev. 2013 May;22(5):803-11</RefSource>
<PMID Version="1">23456555</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites">
<RefSource>Genet Epidemiol. 2013 Sep;37(6):622-34</RefSource>
<PMID Version="1">23836555</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites">
<RefSource>Breast Cancer Res. 2013;15(1):R17</RefSource>
<PMID Version="1">23448497</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites">
<RefSource>J Biol Chem. 2001 Mar 2;276(9):6105-11</RefSource>
<PMID Version="1">11096100</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites">
<RefSource>Int J Cancer. 2002 Jul 10;100(2):214-9</RefSource>
<PMID Version="1">12115572</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites">
<RefSource>Hum Mutat. 2003 Jul;22(1):86-91</RefSource>
<PMID Version="1">12815598</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites">
<RefSource>Breast Cancer Res. 2004;6(4):R375-89</RefSource>
<PMID Version="1">15217505</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites">
<RefSource>J Comput Biol. 2004;11(2-3):377-94</RefSource>
<PMID Version="1">15285897</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites">
<RefSource>Genet Epidemiol. 1988;5(6):471-2</RefSource>
<PMID Version="1">3061869</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites">
<RefSource>J Natl Cancer Inst. 1994 Nov 2;86(21):1600-8</RefSource>
<PMID Version="1">7932824</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites">
<RefSource>Cancer. 1996 Jun 1;77(11):2318-24</RefSource>
<PMID Version="1">8635102</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites">
<RefSource>PLoS One. 2012;7(12):e52374</RefSource>
<PMID Version="1">23300655</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites">
<RefSource>Nature. 2013 Jan 17;493(7432):406-10</RefSource>
<PMID Version="1">23242139</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites">
<RefSource>Hum Mutat. 2013 Mar;34(3):490-7</RefSource>
<PMID Version="1">23255516</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites">
<RefSource>J Med Genet. 2005 Sep;42(9):711-9</RefSource>
<PMID Version="1">16141007</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites">
<RefSource>Breast Cancer Res. 2006;8(1):R12</RefSource>
<PMID Version="1">16507150</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites">
<RefSource>Genes Chromosomes Cancer. 2006 Jul;45(7):646-55</RefSource>
<PMID Version="1">16575876</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites">
<RefSource>Mol Cell Biol. 2007 Jul;27(13):4905-16</RefSource>
<PMID Version="1">17470549</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites">
<RefSource>Bioinformatics. 2007 Sep 15;23(18):2504-6</RefSource>
<PMID Version="1">17709339</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites">
<RefSource>Mol Biol Cell. 2007 Oct;18(10):4129-42</RefSource>
<PMID Version="1">17699596</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites">
<RefSource>Am J Hum Genet. 2007 Nov;81(5):873-83</RefSource>
<PMID Version="1">17924331</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites">
<RefSource>Hum Mutat. 2008 Nov;29(11):1342-54</RefSource>
<PMID Version="1">18951461</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites">
<RefSource>BMC Genet. 2009;10:5</RefSource>
<PMID Version="1">19222838</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites">
<RefSource>Hum Mutat. 2009 Jun;30(6):884-90</RefSource>
<PMID Version="1">19347964</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites">
<RefSource>Bioinformatics. 2009 Jul 15;25(14):1754-60</RefSource>
<PMID Version="1">19451168</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites">
<RefSource>Am J Hum Genet. 2009 Oct;85(4):427-46</RefSource>
<PMID Version="1">19781682</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites">
<RefSource>Adv Anat Pathol. 2009 Nov;16(6):405-17</RefSource>
<PMID Version="1">19851131</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites">
<RefSource>Bioinformatics. 2010 Mar 15;26(6):841-2</RefSource>
<PMID Version="1">20110278</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites">
<RefSource>Trends Cell Biol. 2010 May;20(5):257-68</RefSource>
<PMID Version="1">20226673</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites">
<RefSource>Structure. 2010 May 12;18(5):616-26</RefSource>
<PMID Version="1">20462495</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites">
<RefSource>Nucleic Acids Res. 2010 Sep;38(16):e164</RefSource>
<PMID Version="1">20601685</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites">
<RefSource>Breast Cancer Res. 2010;12(6):R109</RefSource>
<PMID Version="1">21182766</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites">
<RefSource>PLoS One. 2011;6(8):e23221</RefSource>
<PMID Version="1">21850262</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites">
<RefSource>Genome Res. 2011 Sep;21(9):1529-42</RefSource>
<PMID Version="1">21700766</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites">
<RefSource>Breast Cancer Res. 2011;13(1):R6</RefSource>
<PMID Version="1">21244692</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites">
<RefSource>Breast Cancer Res Treat. 2011 Dec;130(3):1043-9</RefSource>
<PMID Version="1">21858661</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites">
<RefSource>Breast Cancer Res. 2011;13(4):R73</RefSource>
<PMID Version="1">21787400</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites">
<RefSource>Am J Hum Genet. 2012 Apr 6;90(4):734-9</RefSource>
<PMID Version="1">22464251</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites">
<RefSource>Breast Cancer Res Treat. 2012 Jul;134(1):429-33</RefSource>
<PMID Version="1">22527104</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites">
<RefSource>J Natl Cancer Inst. 2012 Sep 19;104(18):1363-72</RefSource>
<PMID Version="1">22933731</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites">
<RefSource>PLoS Genet. 2012 Sep;8(9):e1002894</RefSource>
<PMID Version="1">23028338</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites">
<RefSource>J Med Genet. 2012 Oct;49(10):618-20</RefSource>
<PMID Version="1">23054243</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites">
<RefSource>J Cell Sci. 2012 Sep 1;125(Pt 17):4014-25</RefSource>
<PMID Version="1">22685323</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="CommentIn">
<RefSource>Cancer Discov. 2014 Jul;4(7):762-3</RefSource>
<PMID Version="1">25002613</PMID>
</CommentsCorrections>
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