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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.doi10.1136/jmedgenet-2021-107742
dc.description.abstractBackground The most common cancer diagnosed in germline TP53 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. Objectives 1. To assess the frequency of germline TP53 PVs reported diagnostically in women with breast cancer at <30 years of age. 2. To evaluate the impact of personal/family history and HER2 status on the likelihood of germline TP53 pathogenic/likely pathogenic variant (PV/LPV) identification. Methods Genetic test results from patients undergoing diagnostic germline TP53 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 <30 years. Results The overall germline TP53 PV/LPV variant detection rate was 9/270=3.3% in all women diagnosed with breast cancer at <30 years and 2/171=1.2% in those with no second/subsequent cancer diagnosis or family history of TP53 -spectrum cancers. Breast cancers were significantly more likely to be HER2-positive in TP53 PV/LPV carriers than in non-carriers (p=0.00006). Conclusions Germline TP53 PVs/LPVs are uncommon among women diagnosed with breast cancer aged <30 years without other relevant personal or family cancer history but have an important clinical impact when identified.
dc.languageeng
dc.language.isoeng
dc.publisherBMJ
dc.rights.urihttps://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
rioxxterms.licenseref.urihttps://creativecommons.org/licenses/by/4.0
rioxxterms.typeJournal Article/Review
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
dc.contributor.icrauthorGarrett, Aliceen


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