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dc.contributor.authorGarrett, A
dc.contributor.authorTalukdar, S
dc.contributor.authorIzatt, L
dc.contributor.authorBrady, AF
dc.contributor.authorWhyte, S
dc.contributor.authorJosephs, KS
dc.contributor.authorShanmugasundaram, M
dc.contributor.authorGuillemot, LS
dc.contributor.authorVakili, D
dc.contributor.authorEy, S
dc.contributor.authorAhmed, M
dc.date.accessioned2021-07-26T08:31:38Z
dc.date.available2022-01-26T08:31:38Z
dc.identifier.citationJournal of Medical Genetics
dc.identifier.issn0022-2593
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/4691
dc.identifier.eissn1468-6244
dc.identifier.eissn1468-6244en_US
dc.identifier.doi10.1136/jmedgenet-2021-107742
dc.identifier.doi10.1136/jmedgenet-2021-107742en_US
dc.description.abstract<jats:sec><jats:title>Background</jats:title><jats:p>The most common cancer diagnosed in germline <jats:italic>TP53</jats:italic> pathogenic variant (PV) carriers is premenopausal breast cancer. An increased rate of breast tumour HER2 positivity has been reported in this group. Screening for breast/other cancers is recommended in PV carriers.</jats:p></jats:sec><jats:sec><jats:title>Objectives</jats:title><jats:p>1. To assess the frequency of germline <jats:italic>TP53</jats:italic> PVs reported diagnostically in women with breast cancer at &lt;30 years of age.</jats:p><jats:p>2. To evaluate the impact of personal/family history and HER2 status on the likelihood of germline <jats:italic>TP53</jats:italic> pathogenic/likely pathogenic variant (PV/LPV) identification.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>Genetic test results from patients undergoing diagnostic germline <jats:italic>TP53</jats:italic> tests between 2012 and 2017 in the four London Regional Clinical Genetics Services were reviewed. Clinical/pathology data and family history were extracted from genetics files for women diagnosed with breast cancer at &lt;30 years.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>The overall germline <jats:italic>TP53</jats:italic> PV/LPV variant detection rate was 9/270=3.3% in all women diagnosed with breast cancer at &lt;30 years and 2/171=1.2% in those with no second/subsequent cancer diagnosis or family history of <jats:italic>TP53</jats:italic>-spectrum cancers. Breast cancers were significantly more likely to be HER2-positive in <jats:italic>TP53</jats:italic> PV/LPV carriers than in non-carriers (p=0.00006).</jats:p></jats:sec><jats:sec><jats:title>Conclusions</jats:title><jats:p>Germline <jats:italic>TP53</jats:italic> PVs/LPVs are uncommon among women diagnosed with breast cancer aged &lt;30 years without other relevant personal or family cancer history but have an important clinical impact when identified.</jats:p></jats:sec>
dc.languageeng
dc.language.isoeng
dc.publisherBMJ
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.titleResults from London Regional Clinical Genetics services over a 5-year period on germline TP53 testing in women diagnosed with breast cancer at <30 years
dc.typeJournal Article
dcterms.dateAccepted2021-05-06
rioxxterms.versionAM
rioxxterms.versionofrecord10.1136/jmedgenet-2021-107742
dc.relation.isPartOfJournal of Medical Genetics
pubs.notes6 months
pubs.organisational-group/ICR
pubs.organisational-group/ICR/Students
pubs.organisational-group/ICR/Students/PhD and MPhil
pubs.organisational-group/ICR/Students/PhD and MPhil/19/20 Starting Cohort
pubs.organisational-group/ICR
pubs.organisational-group/ICR/Students
pubs.organisational-group/ICR/Students/PhD and MPhil
pubs.organisational-group/ICR/Students/PhD and MPhil/19/20 Starting Cohort
pubs.publication-statusPublished online
pubs.embargo.terms6 months
pubs.embargo.date2022-01-26T08:31:38Z
pubs.embargo.date2022-01-26T08:31:38Z
dc.contributor.icrauthorGarrett, Aliceen


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