The Time Lag Associated With the Reclassification of Germline BRCA Variants' Pathogenicity Is Critical for Cancer Patients.

IF 5.7 2区医学 Q1 Medicine

Cancer Science Pub Date : 2025-03-04 DOI:10.1111/cas.70040

Tomomi Hayashi, Hiroyuki Matsubayashi, Yoshimi Kiyozumi

引用次数: 0

Abstract

The period for reclassifying the variants' pathogenicity is too long for patients with advanced or recurrent cancers with variants of uncertain significance that can be objectively re-evaluated to be (likely) pathogenic according to accumulated evidence. At present, we have three breast cancer patients with the germline variant BRCA2 c.7847C>T, which was genetically evaluated to be likely pathogenic by the paper in Cancer Science.

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与种系BRCA变异致病性重新分类相关的时间滞后对癌症患者至关重要。

对于具有不确定意义的变异的晚期或复发癌症患者，重新分类变异致病性的时间太长，可以根据积累的证据客观地重新评估为（可能）致病。目前，我们有3例乳腺癌患者携带种系变异BRCA2 c.7847C>T，该基因被《癌症科学》杂志的论文评估为可能具有致病性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Cancer Science ONCOLOGY-

CiteScore

9.90

自引率

3.50%

发文量

406

审稿时长

17 weeks

期刊介绍： Cancer Science (formerly Japanese Journal of Cancer Research) is a monthly publication of the Japanese Cancer Association. First published in 1907, the Journal continues to publish original articles, editorials, and letters to the editor, describing original research in the fields of basic, translational and clinical cancer research. The Journal also accepts reports and case reports. Cancer Science aims to present highly significant and timely findings that have a significant clinical impact on oncologists or that may alter the disease concept of a tumor. The Journal will not publish case reports that describe a rare tumor or condition without new findings to be added to previous reports; combination of different tumors without new suggestive findings for oncological research; remarkable effect of already known treatments without suggestive data to explain the exceptional result. Review articles may also be published.