父系遗传 BRCA1 基因变异的结直肠癌:病例报告。

Kyoung Min Kim, Min Ro Lee, Ae Ri Ahn, Myoung Ja Chung
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引用次数: 0

摘要

众所周知,BRCA 基因与乳腺癌和卵巢癌有关。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。我们介绍了一例直肠癌患者的父系遗传 BRCA1 基因变异。一名 39 岁的男性因直肠癌入院。患者接受了手术切除,病理诊断为腺癌。进行了新一代测序,发现了一个 BRCA1 变异。查阅公共数据库并考虑到患者年龄较小,该变异被认为是种系变异。患者的父亲曾患前列腺癌,下一代测序检测发现了一个相同的 BRCA1 变异。在 BRCA 癌症群体中,对男性癌症的关注相对较少。与 BRCA 变异有关的男性 CRC 病例的积累可能有助于澄清两者之间的潜在病理关系。
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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.

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来源期刊
CiteScore
5.00
自引率
4.20%
发文量
45
审稿时长
14 weeks
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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