Kyoung Min Kim, Min Ro Lee, Ae Ri Ahn, Myoung Ja Chung
{"title":"父系遗传 BRCA1 基因变异的结直肠癌：病例报告。","authors":"Kyoung Min Kim, Min Ro Lee, Ae Ri Ahn, Myoung Ja Chung","doi":"10.4132/jptm.2024.08.14","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":46933,"journal":{"name":"Journal of Pathology and Translational Medicine","volume":" ","pages":"341-345"},"PeriodicalIF":1.7000,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11573481/pdf/","citationCount":"0","resultStr":"{\"title\":\"Colorectal cancer with a germline BRCA1 variant inherited paternally: a case report.\",\"authors\":\"Kyoung Min Kim, Min Ro Lee, Ae Ri Ahn, Myoung Ja Chung\",\"doi\":\"10.4132/jptm.2024.08.14\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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.</p>\",\"PeriodicalId\":46933,\"journal\":{\"name\":\"Journal of Pathology and Translational Medicine\",\"volume\":\" \",\"pages\":\"341-345\"},\"PeriodicalIF\":1.7000,\"publicationDate\":\"2024-11-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11573481/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Pathology and Translational Medicine\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.4132/jptm.2024.08.14\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/9/5 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q3\",\"JCRName\":\"PATHOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Pathology and Translational Medicine","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4132/jptm.2024.08.14","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/9/5 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"PATHOLOGY","Score":null,"Total":0}
Colorectal cancer with a germline BRCA1 variant inherited paternally: a case report.
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.
期刊介绍：
The Journal of Pathology and Translational Medicine is an open venue for the rapid publication of major achievements in various fields of pathology, cytopathology, and biomedical and translational research. The Journal aims to share new insights into the molecular and cellular mechanisms of human diseases and to report major advances in both experimental and clinical medicine, with a particular emphasis on translational research. The investigations of human cells and tissues using high-dimensional biology techniques such as genomics and proteomics will be given a high priority. Articles on stem cell biology are also welcome. The categories of manuscript include original articles, review and perspective articles, case studies, brief case reports, and letters to the editor.
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