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Research ArticleExperimental Studies

Genetic Predisposition to Male Breast Cancer: A Case Series

ANGELA APESSOS, KONSTANTINOS AGIANNITOPOULOS, GEORGIA PEPE, GEORGIOS N. TSAOUSIS, PANAGIOTA PITTA, CHRYSANTHI BILI, LINA FLORENTIN, EMMANOUEL SALOUSTROS, ELEFTHERIOS KAMPLETSAS, DIMITRIOS TRYFONOPOULOS, NIKOLAOS TSOUKALAS, EVANGELOS BOURNAKIS, FLORA ZAGOURI, ATHANASSIOS KOTSAKIS, ANNA KOUMARIANOU, IPPOKRATIS KORANTZIS, IOANNIS BOUKOVINAS, GEORGE LYPAS, GEORGIOS FOUNTZILAS, VASILIKI MICHALAKI, SPYRIDON XYNOGALOS, HELENA LINARDOU, EIRINI PAPADOPOULOU, GEORGE NASIOULAS and VASSILIS GEORGOULIAS
Anticancer Research December 2022, 42 (12) 5795-5801; DOI: https://doi.org/10.21873/anticanres.16086
ANGELA APESSOS
1Genekor Medical S.A, Athens, Greece;
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KONSTANTINOS AGIANNITOPOULOS
1Genekor Medical S.A, Athens, Greece;
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  • For correspondence: kagiannitopoulos@genekor.com
GEORGIA PEPE
1Genekor Medical S.A, Athens, Greece;
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GEORGIOS N. TSAOUSIS
1Genekor Medical S.A, Athens, Greece;
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PANAGIOTA PITTA
2AlfaLab Genetics and Genomics Center, Athens, Greece;
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CHRYSANTHI BILI
2AlfaLab Genetics and Genomics Center, Athens, Greece;
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LINA FLORENTIN
2AlfaLab Genetics and Genomics Center, Athens, Greece;
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EMMANOUEL SALOUSTROS
3Department of Oncology, University Hospital of Larissa, Larissa, Greece;
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ELEFTHERIOS KAMPLETSAS
4Department of Medical, Oncology, University Hospital of Ioannina, Ioannina, Greece;
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DIMITRIOS TRYFONOPOULOS
5Department of Medical Oncology, “Agios Savvas” Anticancer Hospital, Athens, Greece;
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NIKOLAOS TSOUKALAS
6Medical Oncology Department, 401 General Military Hospital of Athens, Athens, Greece;
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EVANGELOS BOURNAKIS
7Oncologic Clinical Trials and Research Clinic, Metropolitan General Hospital, Athens, Greece;
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FLORA ZAGOURI
8Department of Clinical Therapeutics, Alexandra Hospital, Medical School, Athens, Greece;
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ATHANASSIOS KOTSAKIS
9University Hospital of Heraklion, University of Crete, School of Medicine, Heraklion, Greece;
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ANNA KOUMARIANOU
10Hematology Oncology Unit, Fourth Department of Internal Medicine, National & Kapodistrian University of Athens, Attikon University Hospital, Athens, Greece;
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IPPOKRATIS KORANTZIS
11Oncology Department, Saint Luke Private Hospital, Thessaloniki, Greece;
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IOANNIS BOUKOVINAS
12Oncology Department, BioClinic Thessaloniki, Thessaloniki, Greece;
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GEORGE LYPAS
13Department of Genetic Oncology/Medical Oncology, Hygeia Hospital, Athens, Greece;
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GEORGIOS FOUNTZILAS
14Laboratory of Molecular Oncology, Hellenic Foundation for Cancer Research, Aristotle University of Thessaloniki, Thessaloniki, Greece;
15Department of Medical Oncology, German Oncology Center, Limassol, Cyprus;
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VASILIKI MICHALAKI
16“ARETAIEIO” Hospital, Athens, Greece;
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SPYRIDON XYNOGALOS
17Department of Medical Oncology, “METAXA” Memorial Piraeus Cancer Hospital, Piraeus, Greece;
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HELENA LINARDOU
18Fourth Oncology Department and Comprehensive Clinical Trial Center, Metropolitan Hospital, Athens, Greece;
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EIRINI PAPADOPOULOU
1Genekor Medical S.A, Athens, Greece;
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GEORGE NASIOULAS
1Genekor Medical S.A, Athens, Greece;
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VASSILIS GEORGOULIAS
19Laboratory of Tumor Cell Biology, School of Medicine, University of Crete, Heraklion, Greece
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Abstract

Background/Aim: Male breast cancer (MBC) is a very rare disorder affecting approximately 1 in 833 men. Genetic predisposition is one of the most important risk factors of MBC with BRCA2 being the most commonly mutated gene in males diagnosed with breast cancer. However, a large part of MBC heritability is still unexplained. This study sought to add to the data already available on the genetics of MBC. Materials and Methods: Our study initially involved comprehensive analysis of BRCA1 and BRCA2, followed by analysis of 43 genes implicated in cancer predisposition in a series of 100 Greek patients diagnosed with MBC between 1995-2015. Results: Pathogenic variants were identified in 13 patients, with BRCA2 being the most commonly affected gene, followed by BRCA1, RAD50, RAD51B, and MSH3. Conclusion: In agreement with previous reports, BRCA2 is the most important genetic factor of MBC predisposition, while the remaining known cancer predisposition genes are each very rarely involved, rendering conclusions as to their cumulative effect difficult to draw.

Key Words:
  • Male breast cancer
  • next generation sequencing
  • genetic predisposition
  • multigene analysis
  • Received October 11, 2022.
  • Revision received October 14, 2022.
  • Accepted October 17, 2022.
  • Copyright © 2022 International Institute of Anticancer Research (Dr. George J. Delinasios), All rights reserved.
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Anticancer Research: 42 (12)
Anticancer Research
Vol. 42, Issue 12
December 2022
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Genetic Predisposition to Male Breast Cancer: A Case Series
ANGELA APESSOS, KONSTANTINOS AGIANNITOPOULOS, GEORGIA PEPE, GEORGIOS N. TSAOUSIS, PANAGIOTA PITTA, CHRYSANTHI BILI, LINA FLORENTIN, EMMANOUEL SALOUSTROS, ELEFTHERIOS KAMPLETSAS, DIMITRIOS TRYFONOPOULOS, NIKOLAOS TSOUKALAS, EVANGELOS BOURNAKIS, FLORA ZAGOURI, ATHANASSIOS KOTSAKIS, ANNA KOUMARIANOU, IPPOKRATIS KORANTZIS, IOANNIS BOUKOVINAS, GEORGE LYPAS, GEORGIOS FOUNTZILAS, VASILIKI MICHALAKI, SPYRIDON XYNOGALOS, HELENA LINARDOU, EIRINI PAPADOPOULOU, GEORGE NASIOULAS, VASSILIS GEORGOULIAS
Anticancer Research Dec 2022, 42 (12) 5795-5801; DOI: 10.21873/anticanres.16086

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Genetic Predisposition to Male Breast Cancer: A Case Series
ANGELA APESSOS, KONSTANTINOS AGIANNITOPOULOS, GEORGIA PEPE, GEORGIOS N. TSAOUSIS, PANAGIOTA PITTA, CHRYSANTHI BILI, LINA FLORENTIN, EMMANOUEL SALOUSTROS, ELEFTHERIOS KAMPLETSAS, DIMITRIOS TRYFONOPOULOS, NIKOLAOS TSOUKALAS, EVANGELOS BOURNAKIS, FLORA ZAGOURI, ATHANASSIOS KOTSAKIS, ANNA KOUMARIANOU, IPPOKRATIS KORANTZIS, IOANNIS BOUKOVINAS, GEORGE LYPAS, GEORGIOS FOUNTZILAS, VASILIKI MICHALAKI, SPYRIDON XYNOGALOS, HELENA LINARDOU, EIRINI PAPADOPOULOU, GEORGE NASIOULAS, VASSILIS GEORGOULIAS
Anticancer Research Dec 2022, 42 (12) 5795-5801; DOI: 10.21873/anticanres.16086
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Keywords

  • Male breast cancer
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