{"id":{"repo_id":"qu-belfast","oai_identifier":"oai:pure.qub.ac.uk/portal:studenttheses/da1b3668-de61-4b51-b1cc-a852fec2f5c3"},"canonical_url":"https://search.dev.ndltd.org/etd/qu-belfast/oai:pure.qub.ac.uk/portal:studenttheses/da1b3668-de61-4b51-b1cc-a852fec2f5c3","repository":{"repo_id":"qu-belfast","name":"Queen's University Belfast","base_url":"https://pureadmin.qub.ac.uk/ws/oai"},"display":{"title":"Molecular and genetic characterisation of contralateral breast cancer (CBC): opportunities for personalised surgery","abstract":"This thesis outlines a molecular epidemiology and genetic sequencing study carried out to investigate the relationship between primary and contralateral breast cancers (CBCs). Additionally, given the known risk factors for CBC development of young age at primary diagnosis and significant family history, the genetic predisposition of the CBC cohort was assessed.<br/><br/>Firstly, the population of women in Northern Ireland that have developed a CBC between 1993 ad 2016 was identified through the Northern Ireland Cancer Registry. The data obtained from this cohort was investigated for survival and prognostic factors in order to better understand CBC at a clinical and population level in Northern Ireland.<br/><br/>Next, the archival tumours of these patients were obtained so that somatic and germline DNA could be extracted to carry out a next generation sequencing study. This study utilised a customised target panel of genes comprising the most commonly mutated genes observed in breast cancers and all known breast cancer susceptibility genes. The data obtained from this NGS study helped to address the two main aims - assess the genetic relationship between primary and contralateral tumours within the CBC cohort and assess the germline breast cancer predisposition of the women in the cohort.","abstract_html":"This thesis outlines a molecular epidemiology and genetic sequencing study carried out to investigate the relationship between primary and contralateral breast cancers (CBCs). Additionally, given the known risk factors for CBC development of young age at primary diagnosis and significant family history, the genetic predisposition of the CBC cohort was assessed.&lt;br/&gt;&lt;br/&gt;Firstly, the population of women in Northern Ireland that have developed a CBC between 1993 ad 2016 was identified through the Northern Ireland Cancer Registry. The data obtained from this cohort was investigated for survival and prognostic factors in order to better understand CBC at a clinical and population level in Northern Ireland.&lt;br/&gt;&lt;br/&gt;Next, the archival tumours of these patients were obtained so that somatic and germline DNA could be extracted to carry out a next generation sequencing study. This study utilised a customised target panel of genes comprising the most commonly mutated genes observed in breast cancers and all known breast cancer susceptibility genes. The data obtained from this NGS study helped to address the two main aims - assess the genetic relationship between primary and contralateral tumours within the CBC cohort and assess the germline breast cancer predisposition of the women in the cohort.","abstract_has_math":false,"creators":["McIlmunn, Colin"],"institution":"Queen's University Belfast","degree_name":"Doctor of Philosophy","degree_level":"Doctoral Thesis","degree_discipline":null,"degree_department":null,"school":null,"contributors":[],"advisors":["McIntosh, Stuart","Savage, Kienan"],"committee_chairs":[],"committee_members":[],"year":2021,"date_issued":"2021-7","date_published":"2021-7","updated_at":"2026-07-24T03:55:58Z","subjects":["Contralateral breast cancer","sequencing","germline","somatic","survival","prognostic factors"],"languages":["eng"],"rights":[],"rights_urls":[],"identifier_entries":[{"key":"dc:identifier","label":"Identifier","values":["oai:pure.qub.ac.uk/portal:studenttheses/da1b3668-de61-4b51-b1cc-a852fec2f5c3"],"render_values":[{"text":"oai:pure.qub.ac.uk/portal:studenttheses/da1b3668-de61-4b51-b1cc-a852fec2f5c3","href":null,"code":true}]}]},"links":{"outbound_url":"https://pure.qub.ac.uk/en/studentTheses/da1b3668-de61-4b51-b1cc-a852fec2f5c3","outbound_label":"Repository record","outbound_source":"dc:identifier"},"metadata_groups":[{"id":"people","label":"People","entries":[{"key":"dc:contributor.advisor","label":"Advisor","values":["McIntosh, Stuart","Savage, Kienan"]},{"key":"dc:creator","label":"Author","values":["McIlmunn, Colin"]}]},{"id":"academic_context","label":"Academic Context","entries":[{"key":"dc:date","label":"Dc Date","values":["2021-7"]},{"key":"dc:date.issued","label":"Date","values":["2021-7"]},{"key":"dc:publisher.department","label":"Dc Publisher Department","values":["School of Medicine, Dentistry and Biomedical Sciences"]},{"key":"dc:publisher.institution","label":"Dc Publisher Institution","values":["Queen's University Belfast"]},{"key":"dc:relation.isreferencedby","label":"Dc Relation Isreferencedby","values":["https://pure.qub.ac.uk/en/studentTheses/da1b3668-de61-4b51-b1cc-a852fec2f5c3"]},{"key":"dc:type","label":"Dc Type","values":["Thesis"]},{"key":"dc:type.qualificationlevel","label":"Dc Type Qualificationlevel","values":["Doctoral Thesis"]},{"key":"dc:type.qualificationname","label":"Dc Type Qualificationname","values":["Doctor of Philosophy"]}]},{"id":"subjects_keywords","label":"Subjects and Keywords","entries":[{"key":"dc:subject","label":"Dc Subject","values":["Contralateral breast cancer","sequencing","germline","somatic","survival","prognostic factors"]}]},{"id":"language_rights","label":"Language and Rights","entries":[{"key":"dc:language","label":"Dc Language","values":["eng"]},{"key":"dc:rights.embargodate","label":"Dc Rights Embargodate","values":["2024-07-31"]}]},{"id":"identifiers","label":"Identifiers","entries":[{"key":"dc:identifier","label":"Identifier","values":["oai:pure.qub.ac.uk/portal:studenttheses/da1b3668-de61-4b51-b1cc-a852fec2f5c3","https://pure.qub.ac.uk/en/studentTheses/da1b3668-de61-4b51-b1cc-a852fec2f5c3"]},{"key":"dc:identifier.uri","label":"Identifier URI","values":["https://pure.qub.ac.uk/files/241380693/Thesis_CM_for_binding.pdf"]}]},{"id":"additional","label":"Additional Metadata","entries":[{"key":"dc:description.abstract","label":"Abstract","values":["This thesis outlines a molecular epidemiology and genetic sequencing study carried out to investigate the relationship between primary and contralateral breast cancers (CBCs). Additionally, given the known risk factors for CBC development of young age at primary diagnosis and significant family history, the genetic predisposition of the CBC cohort was assessed.<br/><br/>Firstly, the population of women in Northern Ireland that have developed a CBC between 1993 ad 2016 was identified through the Northern Ireland Cancer Registry. The data obtained from this cohort was investigated for survival and prognostic factors in order to better understand CBC at a clinical and population level in Northern Ireland.<br/><br/>Next, the archival tumours of these patients were obtained so that somatic and germline DNA could be extracted to carry out a next generation sequencing study. This study utilised a customised target panel of genes comprising the most commonly mutated genes observed in breast cancers and all known breast cancer susceptibility genes. The data obtained from this NGS study helped to address the two main aims - assess the genetic relationship between primary and contralateral tumours within the CBC cohort and assess the germline breast cancer predisposition of the women in the cohort."]},{"key":"dc:title","label":"Title","values":["Molecular and genetic characterisation of contralateral breast cancer (CBC): opportunities for personalised surgery"]}]}],"canonical_facts":{"dc:contributor.advisor":["McIntosh, Stuart","Savage, Kienan"],"dc:creator":["McIlmunn, Colin"],"dc:date":["2021-7"],"dc:date.issued":["2021-7"],"dc:description.abstract":["This thesis outlines a molecular epidemiology and genetic sequencing study carried out to investigate the relationship between primary and contralateral breast cancers (CBCs). Additionally, given the known risk factors for CBC development of young age at primary diagnosis and significant family history, the genetic predisposition of the CBC cohort was assessed.<br/><br/>Firstly, the population of women in Northern Ireland that have developed a CBC between 1993 ad 2016 was identified through the Northern Ireland Cancer Registry. The data obtained from this cohort was investigated for survival and prognostic factors in order to better understand CBC at a clinical and population level in Northern Ireland.<br/><br/>Next, the archival tumours of these patients were obtained so that somatic and germline DNA could be extracted to carry out a next generation sequencing study. This study utilised a customised target panel of genes comprising the most commonly mutated genes observed in breast cancers and all known breast cancer susceptibility genes. 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