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The clinical and pathological characteristics of breast cancer in young women and implications for genetic testing

The clinical and pathological characteristics of breast cancer in young women and implications for genetic testing
The clinical and pathological characteristics of breast cancer in young women and implications for genetic testing
This thesis explores the way in which pathological parameters of breast cancer and family history affects outcomes and the probability of being a BRCA mutation carrier in a population of young onset UK breast cancer patients. This is set in the context of the mainstreaming genetic medicine agenda, VUS knowledge and working practises of UK genetics laboratories.

Descriptive characteristics of data from the UK Prospective study of Outcomes in Sporadic versus Hereditary breast cancer study (POSH) of 3000 patients were analysed with respect to distant disease free interval (DDFI) and overall survival (OS),stratified by Estrogen Receptor (ER) status and family history(FH). Patients with ER positive tumours compared to those with ER negative tumours had a better 5 year OS (85.0% vs 75.7%, p<0.001) that became non-significant by 8 years (67.5% v 67.7%, p=0.931). There was no difference in 5-year DDFI for FH + versus FH- patients (77.4% vs 74.9%, p=0.001).

Multifocal status significantly negatively correlated with BRCA1mutation status and there was anon-significant positive association in BRCA2. In multivariate analysis multifocality was not an independent predictor for survival.

Analysis of common pathological factors (receptor status, grade and mutlifocality) in a subgroup with BRCA genetic testing results was used to derive a new predictive algorithmfor FH – patients to determining pathogenic BRCA 1/2 mutation carrier probabilities.

Knowledge of VUS results by UK breast cancer specialists and of laboratory practices reported by UK geneticists was assessed by two online questionnaire surveys. Overall 71.0% of 181 of breast cancer clinicians felt uncomfortable/
unequipped to interpret a genetics report with surgeons more confident than oncologists. To facilitate moving genetic BRCA testing into mainstream oncology, genetics laboratories need to standardise reporting and testing clinicians need additional training to interpret BRCA reports.
Eccles, Bryony
57ff1cdf-577d-421d-8f35-b12b8d1c2030
Eccles, Bryony
57ff1cdf-577d-421d-8f35-b12b8d1c2030
Eccles, Diana
5b59bc73-11c9-4cf0-a9d5-7a8e523eee23
Copson, Ellen
a94cdbd6-f6e2-429d-a7c0-462c7da0e92b

(2015) The clinical and pathological characteristics of breast cancer in young women and implications for genetic testing. University of Southampton, Faculty of Medicine, Doctoral Thesis, 148pp.

Record type: Thesis (Doctoral)

Abstract

This thesis explores the way in which pathological parameters of breast cancer and family history affects outcomes and the probability of being a BRCA mutation carrier in a population of young onset UK breast cancer patients. This is set in the context of the mainstreaming genetic medicine agenda, VUS knowledge and working practises of UK genetics laboratories.

Descriptive characteristics of data from the UK Prospective study of Outcomes in Sporadic versus Hereditary breast cancer study (POSH) of 3000 patients were analysed with respect to distant disease free interval (DDFI) and overall survival (OS),stratified by Estrogen Receptor (ER) status and family history(FH). Patients with ER positive tumours compared to those with ER negative tumours had a better 5 year OS (85.0% vs 75.7%, p<0.001) that became non-significant by 8 years (67.5% v 67.7%, p=0.931). There was no difference in 5-year DDFI for FH + versus FH- patients (77.4% vs 74.9%, p=0.001).

Multifocal status significantly negatively correlated with BRCA1mutation status and there was anon-significant positive association in BRCA2. In multivariate analysis multifocality was not an independent predictor for survival.

Analysis of common pathological factors (receptor status, grade and mutlifocality) in a subgroup with BRCA genetic testing results was used to derive a new predictive algorithmfor FH – patients to determining pathogenic BRCA 1/2 mutation carrier probabilities.

Knowledge of VUS results by UK breast cancer specialists and of laboratory practices reported by UK geneticists was assessed by two online questionnaire surveys. Overall 71.0% of 181 of breast cancer clinicians felt uncomfortable/
unequipped to interpret a genetics report with surgeons more confident than oncologists. To facilitate moving genetic BRCA testing into mainstream oncology, genetics laboratories need to standardise reporting and testing clinicians need additional training to interpret BRCA reports.

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More information

Published date: April 2015
Organisations: University of Southampton, Cancer Sciences

Identifiers

Local EPrints ID: 399431
URI: http://eprints.soton.ac.uk/id/eprint/399431
PURE UUID: 805d1c39-f188-4e5e-b3dd-22d8db7945cd
ORCID for Diana Eccles: ORCID iD orcid.org/0000-0002-9935-3169

Catalogue record

Date deposited: 16 Aug 2016 15:29
Last modified: 19 Feb 2021 02:33

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Contributors

Author: Bryony Eccles
Thesis advisor: Diana Eccles ORCID iD
Thesis advisor: Ellen Copson

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