Molecular and genetic characterisation of contralateral breast cancer (CBC): opportunities for personalised surgery

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.

Name dc:type.qualificationname

Doctor of Philosophy

Level dc:type.qualificationlevel

Doctoral Thesis

Grantor dc:publisher.institution

Queen's University Belfast

Year dc:date.issued

2021

Author dc:creator

• McIlmunn, Colin

Advisors dc:contributor.advisor

• McIntosh, Stuart
• Savage, Kienan

• Contralateral breast cancer
• sequencing
• germline
• somatic
• survival
• prognostic factors

Language dc:language

eng

Identifier

oai:pure.qub.ac.uk/portal:studenttheses/da1b3668-de61-4b51-b1cc-a852fec2f5c3

OAI identifier oai:identifier

oai:pure.qub.ac.uk/portal:studenttheses/da1b3668-de61-4b51-b1cc-a852fec2f5c3