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Hereditary breast and ovarian cancer: two cases of double heterozigosity for pathogenic variants in the BRCA1 or BRCA2 and ATM genes

2020-12Conference object Open access
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dc.contributor.authorTheisen, Patrícia
dc.contributor.authorRodrigues, Pedro
dc.contributor.authorSilva, Catarina
dc.contributor.authorCarpinteiro, Dina
dc.contributor.authorRibeiro, L.
dc.contributor.authorCarreiro, Helena
dc.contributor.authorGervásio, H.
dc.contributor.authorLeal da Silva, José
dc.contributor.authorVieira, Luís
dc.contributor.authorGonçalves, João
dc.date.accessioned2021-03-13T15:24:05Z
dc.date.available2021-03-13T15:24:05Z
dc.date.issued2020-12
dc.description.abstractIntroduction: Hereditary breast and ovarian cancer (HBOC) is estimated to represent 5-10% of all breast and ovarian cancer cases. Pathogenic germline variants in BRCA1 and BRCA2 account for 25% of familial cases. The identification of genetic defects in HBOC patients allows detection of carriers that can benefit from cancer risk management protocols, and predictive genetic testing to at-risk family members, after appropriate genetic counseling. Two female patients with a personal and family history of cancer were studied by next-generation sequencing (NGS). Methods: NGS using TruSight Cancer Panel (Illumina) followed by bioinformatic analysis of 18 genes associated with HBOC was performed. Pathogenic variants were confirmed by Sanger sequencing. Results: A rare event of double heterozigosity for pathogenic variants was identified in both patients: patient A was heterozygous for BRCA1:c.2037delinsCC, p.(Lys679Asn*4) and ATM:c.3802delG, p.(Val1268*) and patient B carried both BRCA2:c.6001dupT, p.(Ser2001Phefs*2) and ATM:3435_3436delTGinsA, p.(Asp1145Glufs*11). After genetic counseling, three relatives of patient A were analyzed: while one of her two healthy sons was heterozygous for the ATM variant, the other was a double heterozygote for BRCA1:c.2037delinsCC and ATM:c.3802delG; a female cousin, recently diagnosed with breast cancer, was a carrier of ATM:c.3802delG only. Conclusions: The identification of these two rare cases of double heterozigosity for pathogenic variants in BRCA1/BRCA2 and ATM genes, highlights the importance of using NGS-gene panel testing in HBOC. If molecular analysis had been restricted to BRCA genes only, the pathogenic ATM variants would have been missed in both families, depriving them of appropriate genetic counseling and cancer risk management.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationEur J Hum Genet. 2020 Dec;28(Suppl 1): P12.022.Cpt_PT
dc.identifier.doi10.1038/s41431-020-00739-zpt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/7445
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.relation.publisherversionhttps://www.nature.com/articles/s41431-020-00739-zpt_PT
dc.subjectCancerpt_PT
dc.subjectHereditary Cancerpt_PT
dc.subjectBRCA1pt_PT
dc.subjectBRCA2pt_PT
dc.subjectATMpt_PT
dc.subjectDouble Heterozigositypt_PT
dc.subjectBreast Cancerpt_PT
dc.subjectOvarian Cancerpt_PT
dc.subjectCancro Hereditáriopt_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleHereditary breast and ovarian cancer: two cases of double heterozigosity for pathogenic variants in the BRCA1 or BRCA2 and ATM genespt_PT
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferencePlace(online)pt_PT
oaire.citation.issueSuppl 1pt_PT
oaire.citation.title53rd European Society of Human Genetics (ESHG) Conference, 6-9 june 2020pt_PT
oaire.citation.volume28pt_PT
person.familyNameGonçalves
person.givenNameJoão
person.identifier.ciencia-id5710-1FAE-5FAB
person.identifier.orcid0000-0001-9359-8774
person.identifier.ridL-2265-2014
person.identifier.scopus-author-id55934387500
rcaap.rightsopenAccesspt_PT
rcaap.typeconferenceObjectpt_PT
relation.isAuthorOfPublication6bbd19e6-ea9c-4502-b972-ec6997e9c481
relation.isAuthorOfPublication.latestForDiscovery6bbd19e6-ea9c-4502-b972-ec6997e9c481

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