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乳腺癌多基因风险评分的临床应用指南。

Guidance for the Clinical Use of the Breast Cancer Polygenic Risk Scores.

作者信息

Padrik Peeter, Tõnisson Neeme, Hovda Tone, Sahlberg Kristine Kleivi, Hovig Eivind, Costa Luís, Nogueira da Costa Gonçalo, Feldman Inna, Sampaio Filipa, Pajusalu Sander, Ojamaa Kristiina, Kallak Kersti, Tihamäe Ave-Triin, Roht Laura, Kahre Tiina, Lepland Anni, Sõber Siim, Kruuv-Käo Krista, Tamm Madli, Varghese Jajini, Evans Dafydd Gareth

机构信息

Clinic of Hematology and Oncology, Tartu University Hospital, 50603 Tartu, Estonia.

OÜ Antegenes, 50603 Tartu, Estonia.

出版信息

Cancers (Basel). 2025 Mar 21;17(7):1056. doi: 10.3390/cancers17071056.


DOI:10.3390/cancers17071056
PMID:40227593
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11987971/
Abstract

: Polygenic risk scores (PRSs) have been extensively studied and are increasingly applied in healthcare. One of the most studied and developed areas is predictive medicine for breast cancer, but there is no wider consensus on the indications for the clinical use of PRSs for breast cancer. This current guidance endeavours to articulate the scientific evidence underpinning the clinical utility of PRSs in stratifying breast cancer risk, with a particular emphasis on clinical application. : This guidance has been prepared by a group of experts who have been active in breast cancer PRS research and development, combining a review of the evidence base with expert opinion for indications for clinical use. : Based on data from various studies and existing breast cancer prevention and screening services, the indications for clinical use of breast cancer PRSs can be divided into the following scenarios: (1) Management of cancer-free women with a family history of cancer; (2) individual personalised breast cancer prevention and screening in healthcare services; and (3) breast cancer screening programs for more personalised screening. : The integration of PRSs into clinical practice enables healthcare providers to deliver more accurate risk assessments, personalised prevention strategies, and optimised screening programmes, thereby improving patient outcomes and enhancing the effectiveness of breast cancer care. PRS testing represents a novel component in clinical breast cancer risk assessment, supporting a personalised, risk-based approach to breast cancer prevention and screening.

摘要

多基因风险评分(PRSs)已得到广泛研究,并越来越多地应用于医疗保健领域。研究和发展最为深入的领域之一是乳腺癌的预测医学,但对于PRSs在乳腺癌临床应用的指征尚未达成更广泛的共识。本指南旨在阐明支持PRSs在分层乳腺癌风险方面临床效用的科学证据,特别强调临床应用。:本指南由一组积极参与乳腺癌PRS研究与开发的专家编写,结合了对证据基础的审查以及临床应用指征的专家意见。:基于各项研究的数据以及现有的乳腺癌预防和筛查服务,乳腺癌PRSs临床应用的指征可分为以下几种情况:(1)对有癌症家族史的无癌女性进行管理;(2)医疗服务中针对个体的个性化乳腺癌预防和筛查;(3)进行更个性化筛查的乳腺癌筛查项目。:将PRSs整合到临床实践中,使医疗服务提供者能够进行更准确的风险评估、制定个性化的预防策略并优化筛查项目,从而改善患者预后并提高乳腺癌护理的有效性。PRS检测是临床乳腺癌风险评估中的一个新组成部分,支持采用个性化的、基于风险的方法进行乳腺癌预防和筛查。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f5fc/11987971/fd653b2dc2ed/cancers-17-01056-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f5fc/11987971/0ca9e1a95798/cancers-17-01056-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f5fc/11987971/fd653b2dc2ed/cancers-17-01056-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f5fc/11987971/0ca9e1a95798/cancers-17-01056-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f5fc/11987971/fd653b2dc2ed/cancers-17-01056-g002.jpg

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Guidance for the Clinical Use of the Breast Cancer Polygenic Risk Scores.

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[4]
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[8]
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[9]
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[10]
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引用本文的文献

[1]
Personalizing Neoadjuvant Chemotherapy: The Impact of BRCA Variants on Pathologic Complete Response in Luminal B Breast Cancer.

Cancers (Basel). 2025-5-10

本文引用的文献

[1]
Population-based germline breast cancer gene association studies and meta-analysis to inform wider mainstream testing.

Ann Oncol. 2024-10

[2]
EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer.

Eur J Hum Genet. 2024-5

[3]
Comprehensive Inherited Risk Estimation for Risk-Based Breast Cancer Screening in Women.

J Clin Oncol. 2024-5-1

[4]
The Potential of Genetics in Identifying Women at Lower Risk of Breast Cancer.

JAMA Oncol. 2024-2-1

[5]
Clinical implications of incorporating genetic and non-genetic risk factors in CanRisk-based breast cancer risk prediction.

Breast. 2024-2

[6]
The benefit of adding polygenic risk scores, lifestyle factors, and breast density to family history and genetic status for breast cancer risk and surveillance classification of unaffected women from germline CHEK2 c.1100delC families.

Breast. 2024-2

[7]
The impact of risk stratification by polygenic risk and age on breast cancer screening in women aged 40-49 years: a modelling study.

Lancet. 2023-11

[8]
Performance of polygenic risk scores in screening, prediction, and risk stratification: secondary analysis of data in the Polygenic Score Catalog.

BMJ Med. 2023-10-17

[9]
Implementation of Risk-Stratified Breast Cancer Prevention With a Polygenic Risk Score Test in Clinical Practice.

Breast Cancer (Auckl). 2023-10-12

[10]
A Breast Cancer Polygenic Risk Score Is Feasible for Risk Stratification in the Norwegian Population.

Cancers (Basel). 2023-8-16

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