Challenges in the management of a patient with Cowden syndrome : Case report and literature review

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dc.contributor.authorMelbarde-Gorkuša, Inga
dc.contributor.authorIrmejs, Arvids
dc.contributor.authorBerziņa, Dace
dc.contributor.authorŠtrumfa, Ilze
dc.contributor.authorAboliņš, Arnis
dc.contributor.authorGardovskis, Andris
dc.contributor.authorSubatniece, Signe
dc.contributor.authorTrofimovičs, Genadijs
dc.contributor.authorGardovskis, Janis
dc.contributor.authorMiklaševičs, Edvins
dc.contributor.institutionPārmantotā vēža pētniecības nodaļa
dc.date.accessioned2021-06-04T08:05:01Z
dc.date.available2021-06-04T08:05:01Z
dc.date.issued2012-04-14
dc.description.abstractWe would like to present a patient with a classical phenotype of a rare disorder - Cowden syndrome, its diagnostics and management challenges. A breast surgeon has to be aware of this rare condition when treating a patient with breast manifestations of Cowden syndrome and has to refer the patient to a clinical geneticist for further evaluation. Sequencing of the PTEN gene showed the Asp24Gly mutation. According to the latest literature data, the lifetime risk of breast cancer for Cowden syndrome patients is 81% and surgery is a justified option to reduce the risk of breast cancer. Bilateral risk-reducing mastectomy with immediate reconstruction was performed to eliminate further risk of breast cancer. 3 years after the risk-reducing breast surgery the patient is satisfied with the outcome. This is to our best knowledge the first reported Cowden syndrome case with follow-up data after risk-reducing measures have been taken.en
dc.description.statusPeer reviewed
dc.format.extent387022
dc.identifier.citationMelbarde-Gorkuša, I, Irmejs, A, Berziņa, D, Štrumfa, I, Aboliņš, A, Gardovskis, A, Subatniece, S, Trofimovičs, G, Gardovskis, J & Miklaševičs, E 2012, 'Challenges in the management of a patient with Cowden syndrome : Case report and literature review', Hereditary cancer in clinical practice, vol. 10, no. 1, 5. https://doi.org/10.1186/1897-4287-10-5, https://doi.org/10.1186/1897-4287-10-5
dc.identifier.doi10.1186/1897-4287-10-5
dc.identifier.issn1731-2302
dc.identifier.urihttps://dspace.rsu.lv/jspui/handle/123456789/4704
dc.identifier.urlhttp://www.scopus.com/inward/record.url?scp=84862131620&partnerID=8YFLogxK
dc.language.isoeng
dc.relation.ispartofHereditary cancer in clinical practice
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectCancer
dc.subjectCowden syndrome
dc.subjectPTEN
dc.subjectRisk-reducing mastectomy
dc.subject3.1 Basic medicine
dc.subject3.2 Clinical medicine
dc.subject1.1. Scientific article indexed in Web of Science and/or Scopus database
dc.subjectOncology
dc.subjectGenetics(clinical)
dc.subjectSDG 3 - Good Health and Well-being
dc.titleChallenges in the management of a patient with Cowden syndrome : Case report and literature reviewen
dc.type/dk/atira/pure/researchoutput/researchoutputtypes/contributiontojournal/article

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