A Case of Male Breast Cancer Patient with CHEK21100delC Mutation

Male breast cancer (MBC) is a rare disease that accounts for less than one percent of all breast cancers. The association between BRCA1 and BRCA2 mutations and MBC has been well-established; recent data suggest that CHEK2 1100delC heterozygosity is also associated with an increased risk of MBC. Here...

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Bibliographic Details
Published in:Curēus (Palo Alto, CA) CA), 2020-07, Vol.12 (7)
Main Authors: Nguyen, Quan D, Tavana, Anahita, Saenz Rios, Florentino, Posleman Monetto, Flavia E, Robinson, Angelica S
Format: Article
Language:English
Subjects:
Age
Alcohol use
Biopsy
Breast cancer
Case reports
Cell cycle
DNA repair
Family medical history
Genealogy
Genetic counseling
Genetics
Lymphatic system
Mammography
Mastectomy
Mens health
Metastasis
Mutation
Oncology
Patients
Radiology
Rare diseases
Risk factors
Ultrasonic imaging
Women
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Summary:Male breast cancer (MBC) is a rare disease that accounts for less than one percent of all breast cancers. The association between BRCA1 and BRCA2 mutations and MBC has been well-established; recent data suggest that CHEK2 1100delC heterozygosity is also associated with an increased risk of MBC. Herein, we present the case of a 47-year-old male who was initially diagnosed with bilateral symmetric gynecomastia on a diagnostic mammogram performed for right breast palpable lump. Sixteen months after his diagnosis of gynecomastia, he presented with enlarging right breast palpable lumps and underwent a diagnostic mammogram and breast ultrasound. Ultrasound-guided biopsies were performed on the right breast mass and axillary lymphadenopathy. Pathology revealed right breast invasive ductal carcinoma (IDC) and right axillary metastatic lymphadenopathy. Subsequent genetic testing found CHEK2*1100delC mutation. This case report focuses on the presentation, diagnosis, and management of breast cancer, as well as long-term cancer screening in the setting of CHEK2 mutation in a relatively young male patient.
ISSN:2168-8184
2168-8184
DOI:10.7759/cureus.8972