alexa The Clinical Characteristics of Breast Cancers with A Familial Risk in Which No <em>BRCA1/2</em> Mutations were found are Sometimes Suggestive for A Genetic Etiology| Abstract
ISSN: 1747-0862

Journal of Molecular and Genetic Medicine
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  • Research Article   
  • J Mol Genet Med 2019, Vol 13(2): 423

The Clinical Characteristics of Breast Cancers with A Familial Risk in Which No BRCA1/2 Mutations were found are Sometimes Suggestive for A Genetic Etiology

Joris S1,2*, Shahi RB2, De Brakeleer S2, Fontaine C2, Bonduelle M1, Pauwels I1, Teugels E1,2 and De Grève J1,2
1Familial Cancer Clinic, University Hospital Brussels, Laarbeeklaan 101, 1090, Brussels, Belgium
2Department of Medical Oncology, Laboratory of Medical and Molecular Oncology (LMMO), Oncologisch Centrum, Universitair Ziekenhuis Brussel, Jette, Belgium
*Corresponding Author : Dr. Joris S, Department of Medical Oncology, Laboratory of Medical and Molecular Oncology (LMMO), Oncologisch Centrum, Universitair Ziekenhuis Brussel, Jette, Belgium, Tel: +32 2 477 41 11, Email: [email protected]

Received Date: Apr 24, 2019 / Accepted Date: May 08, 2019 / Published Date: May 15, 2019

Abstract

Aim: We investigated the patient and tumor characteristics of breast cancer patients with a high familial risk. The families in which the standard genetic testing revealed a BRCA1 or BRCA2 mutation were excluded to identify clinical characteristics that can be linked with an unknown genetic mutation. These characteristics were compared with those from patients in the same cohort in whom a mutation was found in BRCA1 or BRCA2 and to those from sporadic breast cancer cases (Belgian cancer registry).

Methods: The files of familial cancer cases that underwent BRCA1/2 testing between 1994 and 2012 were retrospectively analyzed.

Results: The BRCA1 related breast cancers occur at a median age of 42, BRCA2 at a median age of 44, familial non-BRCA1/2 at a median age of 47 and sporadic breast cancer at the age of 63. The lower median age of incidence in the non-BRCA1/2 group compared to the sporadic breast cancer group makes use conclude that there are probably moderate risk genes involved. Generational anticipation was also observed in some of the BRCA1/2 negative families. We did not find any significant differences in the pathological characteristics of breast cancers occurring in BRCA1/2 negative patients with a high familial risk compared to sporadic cases.

Conclusion: A shift towards a younger age of disease incidence and “anticipation” in some families suggests the involvement of a genetic factor. The identification of other genetic causes in these familial cases is therefore warranted.

Keywords: Breast cancer; Genetic; Germline mutations; Pathology

Citation: Joris S, Shahi RB, De Brakeleer S, Fontaine C, Bonduelle M, et al. (2019) The Clinical Characteristics of Breast Cancers with A Familial Risk in Which No BRCA1/2 Mutations were found are Sometimes Suggestive for A Genetic Etiology. J Mol Genet Med 13:423.

Copyright: © 2019, Joris S, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

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