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外周血甲基化谱分析预测家族性卵巢癌。

Peripheral blood methylation profiling to predict familial ovarian cancer.

机构信息

Department of Obstetrics and Gynecology, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.

Cancer Research Institute, College of Medicine, The Catholic University of Korea, Seoul, Korea.

出版信息

J Gynecol Oncol. 2021 Mar;32(2):e23. doi: 10.3802/jgo.2021.32.e23. Epub 2021 Jan 7.

DOI:10.3802/jgo.2021.32.e23
PMID:33470065
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7930454/
Abstract

OBJECTIVE

Familial cancer appears at a young age and its incidence is increasing. About 12% of familial ovarian cancer cases are associated with mutations (BRCAm). In this study, we investigated methylation may predict ovarian cancer in those with a family history of cancer (FHC) but without mutations (BRCAwt).

METHODS

Using peripheral blood DNA from 55 subjects without a history of cancer [cancer(-)] and 52 ovarian cancer patients, we examined promoter methylation through bisulfite sequencing of the promoter and expressed the results as the cumulative methylation index. Then, we evaluated the promoter methylation according to germline mutations.

RESULTS

methylation was more prevalent in the BRCAm cancer(-) group than in the BRCAwt cancer(-) group and ovarian cancer patients (p=0.031 and p=0.019, respectively). In the BRCAwt cancer(-) group, methylation was more prevalent in those with an FHC than in those without one and in the BRCAm cancer(-) group with an FHC (p=0.001 and p<0.001, respectively).

CONCLUSION

Our data suggest a predictive role of methylation profile for ovarian cancer in those without a history of cancer but with an FHC. methylation has important implications for diagnostic and predictive testing of those with BRCAwt cancer(-) status with FHC.

摘要

目的

家族性癌症发病年龄较早，且发病率呈上升趋势。约 12%的家族性卵巢癌病例与 基因突变（BRCAm）相关。本研究旨在探讨在无癌症病史（cancer(-)）但无 基因突变（BRCAwt）的家族癌症史（FHC）人群中， 甲基化是否可预测卵巢癌。

方法

采用 55 例无癌症病史（cancer(-)）和 52 例卵巢癌患者的外周血 DNA，通过启动子亚硫酸氢盐测序检测 启动子甲基化，并将结果表示为累积甲基化指数。然后，根据种系突变评估 启动子甲基化。

结果

BRCAm cancer(-)组 甲基化发生率高于 BRCAwt cancer(-)组和卵巢癌患者（p=0.031 和 p=0.019）。在 BRCAwt cancer(-)组中，有 FHC 的患者 甲基化发生率高于无 FHC 的患者，而在 BRCAm cancer(-)组有 FHC 的患者中， 甲基化发生率也高于无 FHC 的患者（p=0.001 和 p<0.001）。

结论

我们的数据表明， 甲基化谱在无癌症病史但有 FHC 的人群中对卵巢癌具有预测作用。 甲基化对具有 FHC 的 BRCAwt cancer(-)状态患者的诊断和预测性检测具有重要意义。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7cac/7930454/b1b6bb66f42c/jgo-32-e23-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7cac/7930454/becfe85574c9/jgo-32-e23-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7cac/7930454/b1b6bb66f42c/jgo-32-e23-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7cac/7930454/becfe85574c9/jgo-32-e23-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7cac/7930454/b1b6bb66f42c/jgo-32-e23-g002.jpg

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