Affiliation:
1. Jeonbuk National University Medical School, Research Institute of Clinical Medicine of Jeonbuk National University, National University Hospital, and Research Institute for Endocrine Sciences
2. Jeonbuk National University Medical School, Research Institute of Clinical Medicine of Jeonbuk National University, National University Hospital
Abstract
Abstract
Background: Sporadic colorectal cancer (CRC) is the most common form of CRC. However, hereditary CRC is also common. BRCA 1/2 (Breast Cancer Gene, 1 and 2) variants increase the risk for breast and ovarian cancers. CRC has also been associated with BRCA variants, but the relevant risks are not clear. We present a case of rectal cancer with a germline BRCA1 pathogenic variant.
Case Report: A 39-year-old male was admitted to our hospital with rectal carcinoma that had been detected in a local hospital. The patient underwent surgical resection and pathologic diagnosis was adenocarcinoma. Next generation sequencing (NGS) was performed and the BRCA1 variant was detected. Reviewing the public database and considering the young age of the patient, the variant was suggested to be germline. Thereafter, to confirm the variant to be germline, normal tissue was sequenced and the same BRCA1 variation was detected. Moreover, the patient’s father had prostatic cancer and NGS testing revealed the identical BRCA1 variant.
Conclusions: In the BRCA cancer group, there is relatively little attention paid to male cancer compared to female cancer. The accumulation of male BRCA-related CRC reports may contribute to establishing a relationship between the two.
Publisher
Research Square Platform LLC