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Germline mutations in a clinic-based series of pregnancy associated breast cancer patients
Authors
Eleni Zografos Korakiti, Anna-Maria Andrikopoulou, Angeliki Rellias, Ioannis Dimitrakakis, Constantine Marinopoulos, Spyridon Giannos, Aris Keramopoulos, Antonios Bredakis, Nikolaos Dimopoulos, Meletios-Athanasios others
Publication date
1 January 2021
Publisher
Abstract
Background: Pregnancy-associated breast cancer (PABC) defined as breast cancer diagnosed during gestation, lactation or within 1 year after delivery, represents a truly challenging situation with significantly increasing incidence rate. The genomic background of PABC has only recently been addressed while the underlying mechanisms of the disease still remain unknown. This analysis aims to further elucidate the frequency of PABC cases attributable to genetic predisposition and identify specific cancer susceptibility genes characterizing PABC. Methods: A comprehensive 94-cancer gene panel was implemented in a cohort of 20 PABC patients treated in our clinic and descriptive correlation was performed among the results and the patients’ clinicopathological data. Results: In the present study, 35% of PABC patients tested carried pathogenic mutations in two known cancer predisposition genes (BRCA1 and CHEK2). In total, 30% of the patients carried BRCA1 pathogenic variants. An additional 5% carried pathogenic variants in the CHEK2 gene. Variants of unknown/uncertain significance (VUS) in breast cancer susceptibility genes BRCA2, CHEK2 and BRIP1 were also identified in three different PABC patients (15%). Not all patients carrying germline mutations reported known family history of cancer. Conclusions: Genetic testing should be considered as an option for PABC patients since the disease is highly associated with genetic susceptibility among other predisposing factors. Germline mutation identification may further modify PABC management approach and improve the prognostic outcome. © 2021, The Author(s)
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Pergamos : Unified Institutional Repository / Digital Library Platform of the National and Kapodistrian University of Athens
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oai:lib.uoa.gr:uoadl:3101697
Last time updated on 10/02/2023
Pergamos : Unified Institutional Repository / Digital Library Platform of the National and Kapodistrian University of Athens
See this paper in CORE
Go to the repository landing page
Download from data provider
oai:lib.uoa.gr:uoadl:2955202
Last time updated on 10/02/2023
Pergamos : Unified Institutional Repository / Digital Library Platform of the National and Kapodistrian University of Athens
See this paper in CORE
Go to the repository landing page
Download from data provider
oai:lib.uoa.gr:uoadl:2953080
Last time updated on 10/02/2023