Evidence map›Paper›PMID 39356959›Full record

ArticleRevista da Associacao Medica Brasileira (1992)2024

Homologous recombination deficiency gene panel analysis results in synchronous endometrial and ovarian cancers.

Ferah Kazanci, Zerrin Yılmaz Çelik, Mert Polat, Ferhat Karademir, Ozlem Erdem, Feride İffet Şahin, Mehmet Anil Onan

Abstract read
In one paragraph

Article in Revista da Associacao Medica Brasileira (1992), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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1citing papers in PubMed
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1 · What the graph read from it

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

7 authors.

Ferah KazanciGazi University, Faculty of Medicine, Department of Gynaecologic Oncology - Ankara, Turkey.ORCID http://orcid.org/0000-0002-3910-0821
Zerrin Yılmaz ÇelikBaskent University, Faculty of Medicine, Department of Medical Genetics - Ankara, Turkey.ORCID http://orcid.org/0000-0001-9158-220X
Mert PolatBaskent University, Faculty of Medicine, Department of Medical Genetics - Ankara, Turkey.ORCID http://orcid.org/0000-0002-9555-4932
Ferhat KarademirAcıbadem University, Faculty of Medicine - İstanbul, Turkey.ORCID http://orcid.org/0009-0001-6477-0982
Ozlem ErdemGazi University, Faculty of Medicine, Department of Pathology - Ankara, Turkey.ORCID http://orcid.org/0000-0002-8396-458X
Feride İffet ŞahinBaskent University, Faculty of Medicine, Department of Medical Genetics - Ankara, Turkey.ORCID http://orcid.org/0000-0001-7308-9673
Mehmet Anil OnanGazi University, Faculty of Medicine, Department of Gynaecologic Oncology - Ankara, Turkey.ORCID http://orcid.org/0000-0001-7643-1585

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveThe objective of this study was to analyze the genetic alterations of tumors within the scope of the homologous recombination deficiency gene panel in patients diagnosed with synchronous endometrial ovarian cancer who have been followed for over 5 years using next-generation sequencing.

methodsDNA was isolated from the patient's formalin-fixed, paraffin-embedded tissue blocks. Next-generation sequencing was performed using the Illumina capture-based sequencing method. Samples were sequenced using the Sophia HR Solution DNA Kit.

resultsSeven patients were included in this study. The ratios of likely pathogenic (LP)/pathogenic (P) somatic mutations in ATM (serine/threonine kinase or Ataxia-telangiectasia mutated gene), BRCA2 (breast cancer type 2 susceptibility gene), BARD1 (BRCA1 associated RING domain 1), TP53 (tumor protein p53), BIRP1 (BRCA1-interacting helicase 1 gene), PALB2 (partner and localizer of BRCA2), and CHECK2 were 21 (48.8%), 8 (18.6%), 5 (11.6%), 3 (6.9%), 2 (4.6%), 2 (4.6%), and 2 (4.6%), respectively, in endometrium, and the ratios of somatic mutations in ATM, BRCA2, TP53, BARD1, RAD54L (DNA repair/recombination protein like), BIRP1, and RAD51D (RAD51 recombinase paralog D) were 24 (60%), 6 (15%), 5 (12.5%), 2 (5%), 2 (5%), 1 (2.5%), and 1 (2.5%), respectively, in ovary. In endometrioid-synchronous endometrial ovarian cancer cases, P/LP mutations were observed in ATM and CHECK2 genes in endometrium and ATM, BRCA2, and TP53 genes in ovary. In two non-endometrioid-synchronous endometrial ovarian cancer cases, CHEK2 (checkpoint kinase 2) mutations were observed in endometrium and ATM and TP53 mutations in ovary, whereas in one case, P/LP mutations in ATM and TP53 genes were common in both tissues.

conclusionPathogenic variations confirming the diagnosis of synchronous endometrial ovarian cancer with genetic alterations were identified in all but one case. ATM gene mutation emerged as the most common alteration and has a potential association with a favorable prognosis.

Indexed as

Endometrial NeoplasmsMutationOvarian NeoplasmsAdultAgedFemaleHigh-Throughput Nucleotide SequencingHomologous RecombinationHumansMiddle AgedNeoplasms, Multiple Primary

Identifiers

PMID39356959
PMCPMC11444207

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