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Open Access 01-12-2021 | Breast Cancer | Research

Germline mutations in a clinic-based series of pregnancy associated breast cancer patients

Authors: Eleni Zografos, Anna-Maria Korakiti, Angeliki Andrikopoulou, Ioannis Rellias, Constantine Dimitrakakis, Spyridon Marinopoulos, Aris Giannos, Antonios Keramopoulos, Nikolaos Bredakis, Meletios-Athanasios Dimopoulos, Flora Zagouri

Published in: BMC Cancer | Issue 1/2021

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.

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Title: Germline mutations in a clinic-based series of pregnancy associated breast cancer patients
Authors: Eleni Zografos
Anna-Maria Korakiti
Angeliki Andrikopoulou
Ioannis Rellias
Constantine Dimitrakakis
Spyridon Marinopoulos
Aris Giannos
Antonios Keramopoulos
Nikolaos Bredakis
Meletios-Athanasios Dimopoulos
Flora Zagouri
Publication date: 01-12-2021
Publisher: BioMed Central
Keywords: Breast Cancer
Breast Cancer
Published in: BMC Cancer / Issue 1/2021
Electronic ISSN: 1471-2407
DOI: https://doi.org/10.1186/s12885-021-08310-9

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