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Breast Cancer Research and Treatment
Published in: Breast Cancer Research and Treatment 3/2017

Open Access 01-02-2017 | Epidemiology

Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results

Authors: Mary Pritzlaff, Pia Summerour, Rachel McFarland, Shuwei Li, Patrick Reineke, Jill S. Dolinsky, David E. Goldgar, Hermela Shimelis, Fergus J. Couch, Elizabeth C. Chao, Holly LaDuca

Published in: Breast Cancer Research and Treatment | Issue 3/2017

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Abstract

Purpose

Genetic predisposition to male breast cancer (MBC) is not well understood. The aim of this study was to better define the predisposition genes contributing to MBC and the utility of germline multi-gene panel testing (MGPT) for explaining the etiology of MBCs.

Methods

Clinical histories and molecular results were retrospectively reviewed for 715 MBC patients who underwent MGPT from March 2012 to June 2016.

Results

The detection rate of MGPT was 18.1% for patients tested for variants in 16 breast cancer susceptibility genes and with no prior BRCA1/2 testing. BRCA2 and CHEK2 were the most frequently mutated genes (11.0 and 4.1% of patients with no prior BRCA1/2 testing, respectively). Pathogenic variants in BRCA2 [odds ratio (OR) = 13.9; p = 1.92 × 10−16], CHEK2 (OR = 3.7; p = 6.24 × 10−24), and PALB2 (OR = 6.6, p = 0.01) were associated with significantly increased risks of MBC. The average age at diagnosis of MBC was similar for patients with (64 years) and without (62 years) pathogenic variants. CHEK2 1100delC carriers had a significantly lower average age of diagnosis (n = 7; 54 years) than all others with pathogenic variants (p = 0.03). No significant differences were observed between history of additional primary cancers (non-breast) and family history of male breast cancer for patients with and without pathogenic variants. However, patients with pathogenic variants in BRCA2 were more likely to have a history of multiple primary breast cancers.

Conclusion

These data suggest that all MBC patients regardless of age of diagnosis, history of multiple primary cancers, or family history of MBC should be offered MGPT.
Appendix
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Metadata
Title
Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results
Authors
Mary Pritzlaff
Pia Summerour
Rachel McFarland
Shuwei Li
Patrick Reineke
Jill S. Dolinsky
David E. Goldgar
Hermela Shimelis
Fergus J. Couch
Elizabeth C. Chao
Holly LaDuca
Publication date
01-02-2017
Publisher
Springer US
Published in
Breast Cancer Research and Treatment / Issue 3/2017
Print ISSN: 0167-6806
Electronic ISSN: 1573-7217
DOI
https://doi.org/10.1007/s10549-016-4085-4

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