A Case of Male Breast Cancer Patient with CHEK2*1100delC Mutation

Abstract

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.

Biological Basis of Breast Cancer-Related Disparities in Precision Oncology Era

“…Men with BRCA1/2 mutations have an increased risk for BC: 7-8% with BRCA2 mutations and 1% with BRCA1 mutation, compared to 0.1% lifetime risk in the general population [116]. In addition, the CHEK2 mutation has also been associated with an increased risk of MBC [117]. Rates of the CHEK2 mutation seem to be higher in some countries compared to others, such as in Northern European countries, but are rare in Australia, Spain, and Ashkenazi Jewish people [117].…”

“…In addition, the CHEK2 mutation has also been associated with an increased risk of MBC [117]. Rates of the CHEK2 mutation seem to be higher in some countries compared to others, such as in Northern European countries, but are rare in Australia, Spain, and Ashkenazi Jewish people [117]. Szwiec et al (2021) reviewed a lot of studies that showed that male patients with mutations in the PALB2 gene have a seven-fold increased risk of MBC [118].…”