Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study
Background Beckwith-Wiedemann syndrome (BWS) is a cancer predisposition syndrome caused by defects on chromosome 11p15.5. The quantitative cancer risks in BWS patients depend on the underlying (epi)genotype but have not yet been assessed in a population-based manner. Methods We identified a group of...
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| Veröffentlicht in: | British journal of cancer 2020-08, Vol.123 (4), p.619-623 |
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| creator | Cöktü, Sümeyye Spix, Claudia Kaiser, Melanie Beygo, Jasmin Kleinle, Stephanie Bachmann, Nadine Kohlschmidt, Nicolai Prawitt, Dirk Beckmann, Alf Klaes, Ruediger Nevinny-Stickel-Hinzpeter, Claudia Döhnert, Steffi Kraus, Cornelia Kadgien, Gundula Vater, Inga Biskup, Saskia Kutsche, Michael Kohlhase, Jürgen Eggermann, Thomas Zenker, Martin Kratz, Christian P. |
| description | Background
Beckwith-Wiedemann syndrome (BWS) is a cancer predisposition syndrome caused by defects on chromosome 11p15.5. The quantitative cancer risks in BWS patients depend on the underlying (epi)genotype but have not yet been assessed in a population-based manner.
Methods
We identified a group of 321 individuals with a molecularly confirmed diagnosis of BWS and analysed the cancer incidence up to age 15 years and cancer spectrum by matching their data with the German Childhood Cancer Registry.
Results
We observed 13 cases of cancer in the entire BWS cohort vs 0.4 expected. This corresponds to a 33-fold increased risk (standardised incidence ratio (SIR) = 32.6; 95% confidence interval = 17.3-55.7). The specific cancers included hepatoblastoma (
n
= 6); nephroblastoma (
n
= 4); astrocytoma (
n
= 1); neuroblastoma (
n
= 1) and adrenocortical carcinoma (
n
= 1). The cancer SIR was highest in patients with a paternal uniparental disomy of 11p15.5 (UPDpat). A high cancer risk remained when cases of cancer diagnosed prior to the BWS diagnosis were excluded.
Conclusions
This study confirms an increased cancer risk in children with BWS. Our findings suggest that the highest cancer risk is associated with UPDpat. We were unable to confirm an excessive cancer risk in patients with IC1 gain of methylation (IC1-GOM) and this finding requires further investigation. |
| doi_str_mv | 10.1038/s41416-020-0911-x |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7434760</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2475019748</sourcerecordid><originalsourceid>FETCH-LOGICAL-c498t-61cf8b44e132dee7e542067bf10137d294f418b5d8995916007291de064af1863</originalsourceid><addsrcrecordid>eNp9ks1u1DAUhS0EotPCA7BBltiwCfg6TmyzQCqjUpAqsQGxtDz2zYxL4gx2UjrvwEPjYUoLSLDyz_l8fO_VIeQJsBfAavUyCxDQVoyzimmA6voeWUBT8woUl_fJgjEmi8LZETnO-bIcNVPyITmquWhAtGpBvi9tdJhoiC54LFtqo6d5i25K80DtMMY1dZvQ-4SRfgvThq4x4hSc7fsddWPsQhrQ0zfovuzl6nNAj4ON8c4lRHqOqdztXlFLE05p_KmFKywOmzFNNE-z3z0iDzrbZ3x8s56QT2_PPi7fVRcfzt8vTy8qJ7SaqhZcp1ZCINTcI0psBGetXHXAoJaea9EJUKvGK60bDW2ZAtfgkbXCdqDa-oS8Pvhu51Wp3WGcku3NNoXBpp0ZbTB_KjFszHq8MlLUQrasGDy_MUjj1xnzZIaQHfa9jTjO2XDBWi10I3lBn_2FXo5ziqW9QsmGgZZC_Z-qC8Wl3FNwoFwZYE7Y3ZYMzOwTYQ6JMCURZp8Ic13ePP2919sXvyJQAH4AcpHiGtPd1_92_QGcOcNz</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2435012778</pqid></control><display><type>article</type><title>Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study</title><source>MEDLINE</source><source>Springer Nature - Complete Springer Journals</source><source>EZB-FREE-00999 freely available EZB journals</source><source>PubMed Central</source><creator>Cöktü, Sümeyye ; Spix, Claudia ; Kaiser, Melanie ; Beygo, Jasmin ; Kleinle, Stephanie ; Bachmann, Nadine ; Kohlschmidt, Nicolai ; Prawitt, Dirk ; Beckmann, Alf ; Klaes, Ruediger ; Nevinny-Stickel-Hinzpeter, Claudia ; Döhnert, Steffi ; Kraus, Cornelia ; Kadgien, Gundula ; Vater, Inga ; Biskup, Saskia ; Kutsche, Michael ; Kohlhase, Jürgen ; Eggermann, Thomas ; Zenker, Martin ; Kratz, Christian P.</creator><creatorcontrib>Cöktü, Sümeyye ; Spix, Claudia ; Kaiser, Melanie ; Beygo, Jasmin ; Kleinle, Stephanie ; Bachmann, Nadine ; Kohlschmidt, Nicolai ; Prawitt, Dirk ; Beckmann, Alf ; Klaes, Ruediger ; Nevinny-Stickel-Hinzpeter, Claudia ; Döhnert, Steffi ; Kraus, Cornelia ; Kadgien, Gundula ; Vater, Inga ; Biskup, Saskia ; Kutsche, Michael ; Kohlhase, Jürgen ; Eggermann, Thomas ; Zenker, Martin ; Kratz, Christian P.</creatorcontrib><description>Background
Beckwith-Wiedemann syndrome (BWS) is a cancer predisposition syndrome caused by defects on chromosome 11p15.5. The quantitative cancer risks in BWS patients depend on the underlying (epi)genotype but have not yet been assessed in a population-based manner.
Methods
We identified a group of 321 individuals with a molecularly confirmed diagnosis of BWS and analysed the cancer incidence up to age 15 years and cancer spectrum by matching their data with the German Childhood Cancer Registry.
Results
We observed 13 cases of cancer in the entire BWS cohort vs 0.4 expected. This corresponds to a 33-fold increased risk (standardised incidence ratio (SIR) = 32.6; 95% confidence interval = 17.3-55.7). The specific cancers included hepatoblastoma (
n
= 6); nephroblastoma (
n
= 4); astrocytoma (
n
= 1); neuroblastoma (
n
= 1) and adrenocortical carcinoma (
n
= 1). The cancer SIR was highest in patients with a paternal uniparental disomy of 11p15.5 (UPDpat). A high cancer risk remained when cases of cancer diagnosed prior to the BWS diagnosis were excluded.
Conclusions
This study confirms an increased cancer risk in children with BWS. Our findings suggest that the highest cancer risk is associated with UPDpat. We were unable to confirm an excessive cancer risk in patients with IC1 gain of methylation (IC1-GOM) and this finding requires further investigation.</description><identifier>ISSN: 0007-0920</identifier><identifier>EISSN: 1532-1827</identifier><identifier>DOI: 10.1038/s41416-020-0911-x</identifier><identifier>PMID: 32451468</identifier><language>eng</language><publisher>London: Nature Publishing Group UK</publisher><subject>631/67/2324 ; 631/67/2332 ; 631/67/68/2486 ; Adolescent ; Astrocytoma ; Beckwith-Wiedemann syndrome ; Beckwith-Wiedemann Syndrome - epidemiology ; Beckwith-Wiedemann Syndrome - genetics ; Biomedical and Life Sciences ; Biomedicine ; Cancer ; Cancer Research ; Child ; Child, Preschool ; Children ; Chromosome 11 ; Chromosomes, Human, Pair 11 - genetics ; Cohort analysis ; Diagnosis ; Drug Resistance ; Epidemiology ; Female ; Genotypes ; Germany - epidemiology ; Humans ; Incidence ; Infant ; Male ; Molecular Medicine ; Neoplasms - classification ; Neoplasms - epidemiology ; Neuroblastoma ; Neuroendocrine tumors ; Oncology ; Registries ; Retrospective Studies ; Uniparental disomy ; Uniparental Disomy - genetics</subject><ispartof>British journal of cancer, 2020-08, Vol.123 (4), p.619-623</ispartof><rights>The Author(s), under exclusive licence to Cancer Research UK 2020</rights><rights>The Author(s), under exclusive licence to Cancer Research UK 2020.</rights><rights>The Author(s), under exclusive licence to Cancer Research UK 2020. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c498t-61cf8b44e132dee7e542067bf10137d294f418b5d8995916007291de064af1863</citedby><cites>FETCH-LOGICAL-c498t-61cf8b44e132dee7e542067bf10137d294f418b5d8995916007291de064af1863</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7434760/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7434760/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,881,27901,27902,41464,42533,51294,53766,53768</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/32451468$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Cöktü, Sümeyye</creatorcontrib><creatorcontrib>Spix, Claudia</creatorcontrib><creatorcontrib>Kaiser, Melanie</creatorcontrib><creatorcontrib>Beygo, Jasmin</creatorcontrib><creatorcontrib>Kleinle, Stephanie</creatorcontrib><creatorcontrib>Bachmann, Nadine</creatorcontrib><creatorcontrib>Kohlschmidt, Nicolai</creatorcontrib><creatorcontrib>Prawitt, Dirk</creatorcontrib><creatorcontrib>Beckmann, Alf</creatorcontrib><creatorcontrib>Klaes, Ruediger</creatorcontrib><creatorcontrib>Nevinny-Stickel-Hinzpeter, Claudia</creatorcontrib><creatorcontrib>Döhnert, Steffi</creatorcontrib><creatorcontrib>Kraus, Cornelia</creatorcontrib><creatorcontrib>Kadgien, Gundula</creatorcontrib><creatorcontrib>Vater, Inga</creatorcontrib><creatorcontrib>Biskup, Saskia</creatorcontrib><creatorcontrib>Kutsche, Michael</creatorcontrib><creatorcontrib>Kohlhase, Jürgen</creatorcontrib><creatorcontrib>Eggermann, Thomas</creatorcontrib><creatorcontrib>Zenker, Martin</creatorcontrib><creatorcontrib>Kratz, Christian P.</creatorcontrib><title>Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study</title><title>British journal of cancer</title><addtitle>Br J Cancer</addtitle><addtitle>Br J Cancer</addtitle><description>Background
Beckwith-Wiedemann syndrome (BWS) is a cancer predisposition syndrome caused by defects on chromosome 11p15.5. The quantitative cancer risks in BWS patients depend on the underlying (epi)genotype but have not yet been assessed in a population-based manner.
Methods
We identified a group of 321 individuals with a molecularly confirmed diagnosis of BWS and analysed the cancer incidence up to age 15 years and cancer spectrum by matching their data with the German Childhood Cancer Registry.
Results
We observed 13 cases of cancer in the entire BWS cohort vs 0.4 expected. This corresponds to a 33-fold increased risk (standardised incidence ratio (SIR) = 32.6; 95% confidence interval = 17.3-55.7). The specific cancers included hepatoblastoma (
n
= 6); nephroblastoma (
n
= 4); astrocytoma (
n
= 1); neuroblastoma (
n
= 1) and adrenocortical carcinoma (
n
= 1). The cancer SIR was highest in patients with a paternal uniparental disomy of 11p15.5 (UPDpat). A high cancer risk remained when cases of cancer diagnosed prior to the BWS diagnosis were excluded.
Conclusions
This study confirms an increased cancer risk in children with BWS. Our findings suggest that the highest cancer risk is associated with UPDpat. We were unable to confirm an excessive cancer risk in patients with IC1 gain of methylation (IC1-GOM) and this finding requires further investigation.</description><subject>631/67/2324</subject><subject>631/67/2332</subject><subject>631/67/68/2486</subject><subject>Adolescent</subject><subject>Astrocytoma</subject><subject>Beckwith-Wiedemann syndrome</subject><subject>Beckwith-Wiedemann Syndrome - epidemiology</subject><subject>Beckwith-Wiedemann Syndrome - genetics</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Cancer</subject><subject>Cancer Research</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Children</subject><subject>Chromosome 11</subject><subject>Chromosomes, Human, Pair 11 - genetics</subject><subject>Cohort analysis</subject><subject>Diagnosis</subject><subject>Drug Resistance</subject><subject>Epidemiology</subject><subject>Female</subject><subject>Genotypes</subject><subject>Germany - epidemiology</subject><subject>Humans</subject><subject>Incidence</subject><subject>Infant</subject><subject>Male</subject><subject>Molecular Medicine</subject><subject>Neoplasms - classification</subject><subject>Neoplasms - epidemiology</subject><subject>Neuroblastoma</subject><subject>Neuroendocrine tumors</subject><subject>Oncology</subject><subject>Registries</subject><subject>Retrospective Studies</subject><subject>Uniparental disomy</subject><subject>Uniparental Disomy - genetics</subject><issn>0007-0920</issn><issn>1532-1827</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><sourceid>C6C</sourceid><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNp9ks1u1DAUhS0EotPCA7BBltiwCfg6TmyzQCqjUpAqsQGxtDz2zYxL4gx2UjrvwEPjYUoLSLDyz_l8fO_VIeQJsBfAavUyCxDQVoyzimmA6voeWUBT8woUl_fJgjEmi8LZETnO-bIcNVPyITmquWhAtGpBvi9tdJhoiC54LFtqo6d5i25K80DtMMY1dZvQ-4SRfgvThq4x4hSc7fsddWPsQhrQ0zfovuzl6nNAj4ON8c4lRHqOqdztXlFLE05p_KmFKywOmzFNNE-z3z0iDzrbZ3x8s56QT2_PPi7fVRcfzt8vTy8qJ7SaqhZcp1ZCINTcI0psBGetXHXAoJaea9EJUKvGK60bDW2ZAtfgkbXCdqDa-oS8Pvhu51Wp3WGcku3NNoXBpp0ZbTB_KjFszHq8MlLUQrasGDy_MUjj1xnzZIaQHfa9jTjO2XDBWi10I3lBn_2FXo5ziqW9QsmGgZZC_Z-qC8Wl3FNwoFwZYE7Y3ZYMzOwTYQ6JMCURZp8Ic13ePP2919sXvyJQAH4AcpHiGtPd1_92_QGcOcNz</recordid><startdate>20200818</startdate><enddate>20200818</enddate><creator>Cöktü, Sümeyye</creator><creator>Spix, Claudia</creator><creator>Kaiser, Melanie</creator><creator>Beygo, Jasmin</creator><creator>Kleinle, Stephanie</creator><creator>Bachmann, Nadine</creator><creator>Kohlschmidt, Nicolai</creator><creator>Prawitt, Dirk</creator><creator>Beckmann, Alf</creator><creator>Klaes, Ruediger</creator><creator>Nevinny-Stickel-Hinzpeter, Claudia</creator><creator>Döhnert, Steffi</creator><creator>Kraus, Cornelia</creator><creator>Kadgien, Gundula</creator><creator>Vater, Inga</creator><creator>Biskup, Saskia</creator><creator>Kutsche, Michael</creator><creator>Kohlhase, Jürgen</creator><creator>Eggermann, Thomas</creator><creator>Zenker, Martin</creator><creator>Kratz, Christian P.</creator><general>Nature Publishing Group UK</general><general>Nature Publishing Group</general><scope>C6C</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7RV</scope><scope>7TO</scope><scope>7U9</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AN0</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>KB0</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>NAPCQ</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20200818</creationdate><title>Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study</title><author>Cöktü, Sümeyye ; Spix, Claudia ; Kaiser, Melanie ; Beygo, Jasmin ; Kleinle, Stephanie ; Bachmann, Nadine ; Kohlschmidt, Nicolai ; Prawitt, Dirk ; Beckmann, Alf ; Klaes, Ruediger ; Nevinny-Stickel-Hinzpeter, Claudia ; Döhnert, Steffi ; Kraus, Cornelia ; Kadgien, Gundula ; Vater, Inga ; Biskup, Saskia ; Kutsche, Michael ; Kohlhase, Jürgen ; Eggermann, Thomas ; Zenker, Martin ; Kratz, Christian P.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c498t-61cf8b44e132dee7e542067bf10137d294f418b5d8995916007291de064af1863</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>631/67/2324</topic><topic>631/67/2332</topic><topic>631/67/68/2486</topic><topic>Adolescent</topic><topic>Astrocytoma</topic><topic>Beckwith-Wiedemann syndrome</topic><topic>Beckwith-Wiedemann Syndrome - epidemiology</topic><topic>Beckwith-Wiedemann Syndrome - genetics</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Cancer</topic><topic>Cancer Research</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Children</topic><topic>Chromosome 11</topic><topic>Chromosomes, Human, Pair 11 - genetics</topic><topic>Cohort analysis</topic><topic>Diagnosis</topic><topic>Drug Resistance</topic><topic>Epidemiology</topic><topic>Female</topic><topic>Genotypes</topic><topic>Germany - epidemiology</topic><topic>Humans</topic><topic>Incidence</topic><topic>Infant</topic><topic>Male</topic><topic>Molecular Medicine</topic><topic>Neoplasms - classification</topic><topic>Neoplasms - epidemiology</topic><topic>Neuroblastoma</topic><topic>Neuroendocrine tumors</topic><topic>Oncology</topic><topic>Registries</topic><topic>Retrospective Studies</topic><topic>Uniparental disomy</topic><topic>Uniparental Disomy - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Cöktü, Sümeyye</creatorcontrib><creatorcontrib>Spix, Claudia</creatorcontrib><creatorcontrib>Kaiser, Melanie</creatorcontrib><creatorcontrib>Beygo, Jasmin</creatorcontrib><creatorcontrib>Kleinle, Stephanie</creatorcontrib><creatorcontrib>Bachmann, Nadine</creatorcontrib><creatorcontrib>Kohlschmidt, Nicolai</creatorcontrib><creatorcontrib>Prawitt, Dirk</creatorcontrib><creatorcontrib>Beckmann, Alf</creatorcontrib><creatorcontrib>Klaes, Ruediger</creatorcontrib><creatorcontrib>Nevinny-Stickel-Hinzpeter, Claudia</creatorcontrib><creatorcontrib>Döhnert, Steffi</creatorcontrib><creatorcontrib>Kraus, Cornelia</creatorcontrib><creatorcontrib>Kadgien, Gundula</creatorcontrib><creatorcontrib>Vater, Inga</creatorcontrib><creatorcontrib>Biskup, Saskia</creatorcontrib><creatorcontrib>Kutsche, Michael</creatorcontrib><creatorcontrib>Kohlhase, Jürgen</creatorcontrib><creatorcontrib>Eggermann, Thomas</creatorcontrib><creatorcontrib>Zenker, Martin</creatorcontrib><creatorcontrib>Kratz, Christian P.</creatorcontrib><collection>Springer Nature OA Free Journals</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Nursing & Allied Health Database</collection><collection>Oncogenes and Growth Factors Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Public Health Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>British Nursing Database</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Database (Alumni Edition)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Biological Science Database</collection><collection>Nursing & Allied Health Premium</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>British journal of cancer</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Cöktü, Sümeyye</au><au>Spix, Claudia</au><au>Kaiser, Melanie</au><au>Beygo, Jasmin</au><au>Kleinle, Stephanie</au><au>Bachmann, Nadine</au><au>Kohlschmidt, Nicolai</au><au>Prawitt, Dirk</au><au>Beckmann, Alf</au><au>Klaes, Ruediger</au><au>Nevinny-Stickel-Hinzpeter, Claudia</au><au>Döhnert, Steffi</au><au>Kraus, Cornelia</au><au>Kadgien, Gundula</au><au>Vater, Inga</au><au>Biskup, Saskia</au><au>Kutsche, Michael</au><au>Kohlhase, Jürgen</au><au>Eggermann, Thomas</au><au>Zenker, Martin</au><au>Kratz, Christian P.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study</atitle><jtitle>British journal of cancer</jtitle><stitle>Br J Cancer</stitle><addtitle>Br J Cancer</addtitle><date>2020-08-18</date><risdate>2020</risdate><volume>123</volume><issue>4</issue><spage>619</spage><epage>623</epage><pages>619-623</pages><issn>0007-0920</issn><eissn>1532-1827</eissn><abstract>Background
Beckwith-Wiedemann syndrome (BWS) is a cancer predisposition syndrome caused by defects on chromosome 11p15.5. The quantitative cancer risks in BWS patients depend on the underlying (epi)genotype but have not yet been assessed in a population-based manner.
Methods
We identified a group of 321 individuals with a molecularly confirmed diagnosis of BWS and analysed the cancer incidence up to age 15 years and cancer spectrum by matching their data with the German Childhood Cancer Registry.
Results
We observed 13 cases of cancer in the entire BWS cohort vs 0.4 expected. This corresponds to a 33-fold increased risk (standardised incidence ratio (SIR) = 32.6; 95% confidence interval = 17.3-55.7). The specific cancers included hepatoblastoma (
n
= 6); nephroblastoma (
n
= 4); astrocytoma (
n
= 1); neuroblastoma (
n
= 1) and adrenocortical carcinoma (
n
= 1). The cancer SIR was highest in patients with a paternal uniparental disomy of 11p15.5 (UPDpat). A high cancer risk remained when cases of cancer diagnosed prior to the BWS diagnosis were excluded.
Conclusions
This study confirms an increased cancer risk in children with BWS. Our findings suggest that the highest cancer risk is associated with UPDpat. We were unable to confirm an excessive cancer risk in patients with IC1 gain of methylation (IC1-GOM) and this finding requires further investigation.</abstract><cop>London</cop><pub>Nature Publishing Group UK</pub><pmid>32451468</pmid><doi>10.1038/s41416-020-0911-x</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0007-0920 |
| ispartof | British journal of cancer, 2020-08, Vol.123 (4), p.619-623 |
| issn | 0007-0920 1532-1827 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7434760 |
| source | MEDLINE; Springer Nature - Complete Springer Journals; EZB-FREE-00999 freely available EZB journals; PubMed Central |
| subjects | 631/67/2324 631/67/2332 631/67/68/2486 Adolescent Astrocytoma Beckwith-Wiedemann syndrome Beckwith-Wiedemann Syndrome - epidemiology Beckwith-Wiedemann Syndrome - genetics Biomedical and Life Sciences Biomedicine Cancer Cancer Research Child Child, Preschool Children Chromosome 11 Chromosomes, Human, Pair 11 - genetics Cohort analysis Diagnosis Drug Resistance Epidemiology Female Genotypes Germany - epidemiology Humans Incidence Infant Male Molecular Medicine Neoplasms - classification Neoplasms - epidemiology Neuroblastoma Neuroendocrine tumors Oncology Registries Retrospective Studies Uniparental disomy Uniparental Disomy - genetics |
| title | Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-10T12%3A22%3A55IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Cancer%20incidence%20and%20spectrum%20among%20children%20with%20genetically%20confirmed%20Beckwith-Wiedemann%20spectrum%20in%20Germany:%20a%20retrospective%20cohort%20study&rft.jtitle=British%20journal%20of%20cancer&rft.au=C%C3%B6kt%C3%BC,%20S%C3%BCmeyye&rft.date=2020-08-18&rft.volume=123&rft.issue=4&rft.spage=619&rft.epage=623&rft.pages=619-623&rft.issn=0007-0920&rft.eissn=1532-1827&rft_id=info:doi/10.1038/s41416-020-0911-x&rft_dat=%3Cproquest_pubme%3E2475019748%3C/proquest_pubme%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=2435012778&rft_id=info:pmid/32451468&rfr_iscdi=true |