Tumour Versus Germline BRCA Testing in Ovarian Cancer

The aim of this audit was to evaluate the usefulness and serviceability of testing for pathogenic mutations in BRCA1 or BRCA2 (BRCA1/2) genes in ovarian cancer (OC) patients. One hundred and thirty-five patients with more common histological sub-types of OC were retrospectively identified between 20...

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Autores: Akaev, Iolia|||0000-0002-4351-8147, Rahimi, Siavash|||0000-0002-8282-1480, Onifade, Olubukola, Gardner, Francis John Edward, Castells-Rufas, David|||0000-0002-7181-9705, Jones, Eleanor, Acharige, Shyamika, Chit Cheng, Yeoh
Tipo de recurso: artículo
Fecha de publicación:2021
País:España
Institución:Universitat Autònoma de Barcelona
Repositorio:Dipòsit Digital de Documents de la UAB
Idioma:inglés
OAI Identifier:oai:ddd.uab.cat:237970
Acceso en línea:https://ddd.uab.cat/record/237970
https://dx.doi.org/urn:doi:10.3390/diagnostics11030547
Access Level:acceso abierto
Palabra clave:BRCA1
BRCA2
Tumour
Somatic
Carcinoma
Ovarian
Service
NGS
PARP
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spelling Tumour Versus Germline BRCA Testing in Ovarian Cancera single-site institution experience in the United KingdomAkaev, Iolia|||0000-0002-4351-8147Rahimi, Siavash|||0000-0002-8282-1480Onifade, OlubukolaGardner, Francis John EdwardCastells-Rufas, David|||0000-0002-7181-9705Jones, EleanorAcharige, ShyamikaChit Cheng, YeohBRCA1BRCA2TumourSomaticCarcinomaOvarianServiceNGSPARPThe aim of this audit was to evaluate the usefulness and serviceability of testing for pathogenic mutations in BRCA1 or BRCA2 (BRCA1/2) genes in ovarian cancer (OC) patients. One hundred and thirty-five patients with more common histological sub-types of OC were retrospectively identified between 2011 and 2019. The fail rate of the molecular analysis was 7.4% (10/135). One hundred and twenty-five records were evaluated: 99 (79.2%) patients had wild-type BRCA (both somatic and germline); tumour BRCA1/2 (tBRCA1/2) pathogenic mutations were found in 20 (16%) patients with distribution between BRCA1 and BRCA2 being 40% and 60%, respectively; 13 (10.4%) patients with pathogenic variants had germline mutations; and tBRCA1/2 with variant of unknown significance (VUS), in the absence of pathogenic BRCA1 or BRCA2 variants, was detected in 6 (4.8%) patients. Our data show that expanding the molecular service to the routine first-tumour testing for patients with OC will potentially increase the detection rate of BRCA mutations, thereby providing early benefits of PARP inhibitors therapy. The tumour testing service should continue to be offered to newly diagnosed patients with high-grade epithelial cancers, including high-grade serous carcinoma, but also with carcinosarcomas and poorly-differentiated metastatic adenocarcinomas of unknown origin. 22021-01-0120212021-01-01Articlehttp://purl.org/coar/resource_type/c_6501VoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleapplication/pdfhttps://ddd.uab.cat/record/237970https://dx.doi.org/urn:doi:10.3390/diagnostics11030547reponame:Dipòsit Digital de Documents de la UABinstname:Universitat Autònoma de BarcelonaInglésengopen accesshttp://purl.org/coar/access_right/c_abf2Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.https://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:ddd.uab.cat:2379702026-06-06T12:50:31Z
dc.title.none.fl_str_mv Tumour Versus Germline BRCA Testing in Ovarian Cancer
a single-site institution experience in the United Kingdom
title Tumour Versus Germline BRCA Testing in Ovarian Cancer
spellingShingle Tumour Versus Germline BRCA Testing in Ovarian Cancer
Akaev, Iolia|||0000-0002-4351-8147
BRCA1
BRCA2
Tumour
Somatic
Carcinoma
Ovarian
Service
NGS
PARP
title_short Tumour Versus Germline BRCA Testing in Ovarian Cancer
title_full Tumour Versus Germline BRCA Testing in Ovarian Cancer
title_fullStr Tumour Versus Germline BRCA Testing in Ovarian Cancer
title_full_unstemmed Tumour Versus Germline BRCA Testing in Ovarian Cancer
title_sort Tumour Versus Germline BRCA Testing in Ovarian Cancer
dc.creator.none.fl_str_mv Akaev, Iolia|||0000-0002-4351-8147
Rahimi, Siavash|||0000-0002-8282-1480
Onifade, Olubukola
Gardner, Francis John Edward
Castells-Rufas, David|||0000-0002-7181-9705
Jones, Eleanor
Acharige, Shyamika
Chit Cheng, Yeoh
author Akaev, Iolia|||0000-0002-4351-8147
author_facet Akaev, Iolia|||0000-0002-4351-8147
Rahimi, Siavash|||0000-0002-8282-1480
Onifade, Olubukola
Gardner, Francis John Edward
Castells-Rufas, David|||0000-0002-7181-9705
Jones, Eleanor
Acharige, Shyamika
Chit Cheng, Yeoh
author_role author
author2 Rahimi, Siavash|||0000-0002-8282-1480
Onifade, Olubukola
Gardner, Francis John Edward
Castells-Rufas, David|||0000-0002-7181-9705
Jones, Eleanor
Acharige, Shyamika
Chit Cheng, Yeoh
author2_role author
author
author
author
author
author
author
dc.subject.none.fl_str_mv BRCA1
BRCA2
Tumour
Somatic
Carcinoma
Ovarian
Service
NGS
PARP
topic BRCA1
BRCA2
Tumour
Somatic
Carcinoma
Ovarian
Service
NGS
PARP
description The aim of this audit was to evaluate the usefulness and serviceability of testing for pathogenic mutations in BRCA1 or BRCA2 (BRCA1/2) genes in ovarian cancer (OC) patients. One hundred and thirty-five patients with more common histological sub-types of OC were retrospectively identified between 2011 and 2019. The fail rate of the molecular analysis was 7.4% (10/135). One hundred and twenty-five records were evaluated: 99 (79.2%) patients had wild-type BRCA (both somatic and germline); tumour BRCA1/2 (tBRCA1/2) pathogenic mutations were found in 20 (16%) patients with distribution between BRCA1 and BRCA2 being 40% and 60%, respectively; 13 (10.4%) patients with pathogenic variants had germline mutations; and tBRCA1/2 with variant of unknown significance (VUS), in the absence of pathogenic BRCA1 or BRCA2 variants, was detected in 6 (4.8%) patients. Our data show that expanding the molecular service to the routine first-tumour testing for patients with OC will potentially increase the detection rate of BRCA mutations, thereby providing early benefits of PARP inhibitors therapy. The tumour testing service should continue to be offered to newly diagnosed patients with high-grade epithelial cancers, including high-grade serous carcinoma, but also with carcinosarcomas and poorly-differentiated metastatic adenocarcinomas of unknown origin.
publishDate 2021
dc.date.none.fl_str_mv 2
2021-01-01
2021
2021-01-01
dc.type.none.fl_str_mv Article
http://purl.org/coar/resource_type/c_6501
VoR
http://purl.org/coar/version/c_970fb48d4fbd8a85
dc.type.openaire.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv https://ddd.uab.cat/record/237970
https://dx.doi.org/urn:doi:10.3390/diagnostics11030547
url https://ddd.uab.cat/record/237970
https://dx.doi.org/urn:doi:10.3390/diagnostics11030547
dc.language.none.fl_str_mv Inglés
eng
language_invalid_str_mv Inglés
language eng
dc.rights.none.fl_str_mv open access
http://purl.org/coar/access_right/c_abf2
https://creativecommons.org/licenses/by/4.0/
dc.rights.openaire.fl_str_mv info:eu-repo/semantics/openAccess
rights_invalid_str_mv open access
http://purl.org/coar/access_right/c_abf2
https://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.source.none.fl_str_mv reponame:Dipòsit Digital de Documents de la UAB
instname:Universitat Autònoma de Barcelona
instname_str Universitat Autònoma de Barcelona
reponame_str Dipòsit Digital de Documents de la UAB
collection Dipòsit Digital de Documents de la UAB
repository.name.fl_str_mv
repository.mail.fl_str_mv
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