Kim Kyoung Min, Lee Min Ro, Ahn Ae Ri, Chung Myoung Ja
Department of Pathology, Jeonbuk National University Medical School, Research Institute of Clinical Medicine of Jeonbuk National University, Biomedical Research Institute of Jeonbuk National University Hospital, Jeonju, Korea.
Department of Surgery, Jeonbuk National University Medical School, Research Institute of Clinical Medicine of Jeonbuk National University, Biomedical Research Institute of Jeonbuk National University Hospital, Jeonju, Korea.
J Pathol Transl Med. 2024 Nov;58(6):341-345. doi: 10.4132/jptm.2024.08.14. Epub 2024 Sep 5.
BRCA genes have well-known associations with breast and ovarian cancers. However, variations in the BRCA gene, especially germline variations, have also been reported in colorectal cancer (CRC). We present the case of a rectal cancer with a germline BRCA1 variation inherited from the paternal side. A 39-year-old male was admitted with rectal cancer. The patient underwent surgical resection and the pathologic diagnosis was adenocarcinoma. Next-generation sequencing was performed and a BRCA1 variant was detected. Reviewing the public database and considering the young age of the patient, the variant was suggested to be germline. The patient's father had had prostate cancer and next-generation sequencing testing revealed an identical BRCA1 variant. In the BRCA cancer group, there is relatively little attention paid to male cancers. The accumulation of male CRC cases linked to BRCA variations may help clarify the potential pathological relationship between the two.
BRCA基因与乳腺癌和卵巢癌有着众所周知的关联。然而,BRCA基因的变异,尤其是种系变异,在结直肠癌(CRC)中也有报道。我们报告一例从父系遗传了种系BRCA1变异的直肠癌病例。一名39岁男性因直肠癌入院。患者接受了手术切除,病理诊断为腺癌。进行了二代测序,检测到一个BRCA1变异。查阅公共数据库并考虑到患者的年轻年龄,该变异被认为是种系变异。患者的父亲曾患前列腺癌,二代测序检测显示有相同的BRCA1变异。在BRCA相关癌症群体中,男性癌症相对较少受到关注。与BRCA变异相关的男性CRC病例的积累可能有助于阐明两者之间潜在的病理关系。