Expert consensus on <italic style="font-style: italic">BRCA1/2</italic> gene testing and clinical application in Chinese breast cancer patients (2025 edition)

Hongxia WANG; Yongmei YIN; Xichun HU

doi:10.19401/j.cnki.1007-3639.2025.07.010

您当前的位置：

首页 >

文章列表页 >

Expert consensus on BRCA1/2 gene testing and clinical application in Chinese breast cancer patients (2025 edition)

Guideline and Consensus | 更新时间：2025-12-31

- Expert consensus on BRCA1/2 gene testing and clinical application in Chinese breast cancer patients (2025 edition)
- China Oncology Vol. 35, Issue 7, Pages: 710-734(2025)
- 作者机构：
  
  中国抗癌协会乳腺癌专业委员会；中国医师协会临床精准医疗专业委员会；中国抗癌协会肿瘤异质性与个体化治疗专业委员会
- 作者简介：
- 基金信息：
- DOI：10.19401/j.cnki.1007-3639.2025.07.010
  CLC： R737.9
- Received：16 June 2025，
  
  Revised：2025-07-14，
  
  Published：30 July 2025
- 稿件说明：
移动端阅览
Hongxia WANG, Yongmei YIN, Xichun HU. Expert consensus on BRCA1/2 gene testing and clinical application in Chinese breast cancer patients (2025 edition)[J]. China Oncology, 2025, 35(7): 710-734.
DOI：

Hongxia WANG, Yongmei YIN, Xichun HU. Expert consensus on BRCA1/2 gene testing and clinical application in Chinese breast cancer patients (2025 edition)[J]. China Oncology, 2025, 35(7): 710-734. DOI： 10.19401/j.cnki.1007-3639.2025.07.010.

摘要

乳腺癌是中国女性常见的恶性肿瘤之一，其中遗传性乳腺癌占5%~10%，

BRCA1/2

基因突变是最主要的遗传易感因素。近年来，

尽管多腺苷二磷酸核糖聚合酶[poly (ADP-ribose) polymerase，PARP

]

抑制剂等靶向药物的应用改善了

BRCA

突变乳腺癌患者的预后，但在临床实践中仍存在诸多亟待解决的问题，包括突变检测的规范化、精准治疗策略的优化及长期管理的完善等。针对这些临床问题，本共识专家组基于《中国乳腺癌患者

BRCA1/2

基因检测与临床应用专家共识（2018年版）》及国内外最新循证医学证据，结合中国临床实践特点，对

BRCA1/2

基因检测的适用人群、检测方法、结果解读、治疗策略和风险管理等关键环节进行了系统评估和深入讨论，最终形成《中国乳腺癌患者

BRCA1/2

基因检测与临床应用专家共识（2025年版）》。主要更新内容包括：① 增加

BRCA1/2

基因突变与程序性死亡蛋白配体-1（programmed death ligand-1，PD-L1）表达的关系，以及

BRCA

ness类型的相关内容；② 规范基因检测的应用，如增加临床检测的意义、时机及样本选择、优化

BRCA

检测人群；③ 更新治疗策略，如

BRCA1/2

基因突变的非药物治疗、

BRCA1/2

基因突变三阴性乳腺癌（triple-negative breast cancer，TNBC）患者的治疗、

BRCA1/2

基因突变激素受体（hormone receptor，HR）

/人表皮生长因子受体2（human epidermal growth factor receptor 2，HER2）

乳腺癌患者的治疗决策、PARP抑制剂的临床使用及不良反应管理；④ 增加长期风险管理的相关内容，如涵盖随访管理、预防性手术指征、新增基因检测的质量控制与要求、更新基因检测流程、报告内容及解读等。本共识旨在为临床医师提供规范化的诊疗指导，推动

BRCA

基因突变乳腺癌的精准医疗发展，最终改善患者生存及预后。随着研究的深入，本共识今后将持续更新以纳入最新的循证医学证据。本共识已在国际实践指南注册平台（Practice guideline REgistration for transPAREncy，PREPARE）注册，注册号为PREPARE-2025CN1085。

Abstract

Breast cancer remains one of the frequently diagnosed malignant tumors among Chinese women

with hereditary cases accounting for 5%-10% of all diagnoses

where

BRCA1/2

gene mutations serve as the primary genetic predisposition factors. Although targeted therapies like poly (ADP-ribose) polymerase (PARP) inhibitors have significantly improved prognoses for patients with

BRCA

-mutated breast cancer in recent years

critical clinical challenges persist

including the standardization of genetic testing protocols

optimization of precision treatment approaches

and refinement of long-term management strategies. In response to these challenges

our expert panel has conducted a comprehensive update to the 2018 Edition of this consensus by integrating the latest global evidence-based medical research with China’s

unique clinical practice characteristics. This 2025 Edition provides systematic evaluations and recommendations on five key aspects: indications for

BRCA1/2

gene testing

testing methodologies

result interpretation

treatment strategies

and risk management. The main updates include: ① Increasing the relationship between

BRCA1/2

gene mutations and programmed death ligand-1 (PD-L1) expression

as well as related content on

BRCA

ness types; ② Standardizing the application of genetic testing

such as increasing the significance

timing

and sample selection of clinical testing

and optimizing the

BRCA

testing population; ③ Updating treatment strategies

such as non-drug treatment of

BRCA1/2

gene mutation

treatment of triple negative breast cancer (TNBC) patients with

BRCA1/2

gene mutation

treatment decisions of hormone receptor (HR)

/human epidermal growth factor receptor 2 (HER2)

breast cancer patients with

BRCA1/2

gene mutation

clinical use of PARP inhibitors and adverse reaction management; ④ Addion of relevant content on long-term risk management

such as covering follow-up management

indications for preventive surgery

quality control and requirements for new genetic testing

updating genetic testing processes

report content and interpretation. This consensus aimed to establish standardized diagnostic and therapeutic frameworks for clinicians

advance precision medicine in

BRCA

-mutated breast cancer

and ultimately improve patient survival outcomes. As new evidence emerges

continuous updates will be implemented to incorporate the latest research findings. This consensus has been registered on the Practice guideline REgistration for transPAREncy (PREPARE) platform (registration number: PREPARE-2025CN1085).

关键词

Keywords

references

HAN B F , ZHENG R S , ZENG H M , et al . Cancer incidence and mortality in China, 2022 [J ] . J Natl Cancer Cent , 2024 , 4 ( 1 ): 47 - 53 .

元玫雯 , 冯雨舒 , 赵雪莲 , 等 . 2006—2017年中国女性乳腺癌和生殖系统癌症发病趋势分析 [J ] . 中华流行病学杂志 , 2024 , 45 ( 5 ): 647 - 655 .

YUAN M W , FENG Y S , ZHAO X L , et al . Analysis on incidence trend of breast cancer and reproductive system cancers in women in China, 2006-2017 [J ] . Chin J Epidemiol , 2024 , 45 ( 5 ): 647 - 655 .

QIAN X Y , ZOU X N , XIU M , et al . Epidemiology and clinicopathologic features of breast cancer in China and the United States [J ] . Transl Cancer Res , 2023 , 12 ( 7 ): 1826 - 1835 . DOI: 10.21037/tcr-22-2799 http://doi.org/10.21037/tcr-22-2799

HONG R X , XU B H . Breast cancer: an up-to-date review and future perspectives [J ] . Cancer Commun (Lond) , 2022 , 42 ( 10 ): 913 - 936 .

YOSHIMURA A , IMOTO I , IWATA H . Functions of breast cancer predisposition genes: implications for clinical management [J ] . Int J Mol Sci , 2022 , 23 ( 13 ): 7481 .

EL KHOURY C J , ADIB S M , CHAAYA M , et al . Trends in breast cancer staging at diagnosis associated with screening campaigns in Lebanon [J ] . Womens Health Rep (New Rochelle) , 2020 , 1 ( 1 ): 521 - 528 .

POHL-RESCIGNO E , HAUKE J , LOIBL S , et al . Association of germline variant status with therapy response in high-risk early-stage breast cancer: a secondary analysis of the GeparOcto randomized clinical trial [J ] . JAMA Oncol , 2020 , 6 ( 5 ): 744 - 748 .

ROWLANDS C F , ALLEN S , BALMAÑA J , et al . Population-based germline breast cancer gene association studies and meta-analysis to inform wider mainstream testing [J ] . Ann Oncol , 2024 , 35 ( 10 ): 892 - 901 .

HU C L , HART S N , GNANAOLIVU R , et al . A population-based study of genes previously implicated in breast cancer [J ] . N Engl J Med , 2021 , 384 ( 5 ): 440 - 451 .

CONSORTIUM B C A . Breast cancer risk genes: association analysis in more than 113 000 women [J ] . N Engl J Med , 2021 , 384 ( 5 ): 428 - 439 .

MIKI Y , SWENSEN J , SHATTUCK-EIDENS D , et al . A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1 [J ] . Science , 1994 , 266 ( 5182 ): 66 - 71 .

WOOSTER R , BIGNELL G , LANCASTER J , et al . Identification of the breast cancer susceptibility gene BRCA2 [J ] . Nature , 1995 , 378 ( 6559 ): 789 - 792 .

DIAS NUNES J , DEMEESTERE I , DEVOS M . BRCA mutations and fertility preservation [J ] . Int J Mol Sci , 2023 , 25 ( 1 ): 204 .

DEVICO MARCIANO N , KROENING G , DAYYANI F , et al . BRCA -mutated pancreatic cancer: from discovery to novel treatment paradigms [J ] . Cancers (Basel) , 2022 , 14 ( 10 ): 2453 .

Chahat , NAINWAL N , MURTI Y , et al . Advancements in targeting tumor suppressor genes (p53 and BRCA1/2 ) in breast cancer therapy [J ] . Mol Divers , 2025 , 29 ( 3 ): 2691 - 2716 .

王嘉 , 王杉 , 金锋 . BRCA1/2 胚系突变乳腺癌临床诊疗进展 [J ] . 中国肿瘤临床 , 2024 , 51 ( 18 ): 957 - 962 .

WANG J , WANG S , JIN F . Progress in clinical diagnosis and treatment of germline BRCA1/2 mutation-related breast cancer [J ] . Chin J Clin Oncol , 2024 , 51 ( 18 ): 957 - 962 .

SZENTMARTONI G , MÜHL D , CSANDA R , et al . Predictive value and therapeutic significance of somatic BRCA mutation in solid tumors [J ] . Biomedicines , 2024 , 12 ( 3 ): 593 .

WHILEY P J , GUIDUGLI L , WALKER L C , et al . Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary [J ] . Hum Mutat , 2011 , 32 ( 6 ): 678 - 687 .

THOMASSEN M , GERDES A M , CRUGER D , et al . Low frequency of large genomic rearrangements of BRCA1 and BRCA2 in western Denmark [J ] . Cancer Genet Cytogenet , 2006 , 168 ( 2 ): 168 - 171 .

FOULKES W D . Inherited susceptibility to common cancers [J ] . N Engl J Med , 2008 , 359 ( 20 ): 2143 - 2153 .

METCALFE K A , POLL A , ROYER R , et al . Screening for founder mutations in BRCA1 and BRCA2 in unselected Jewish women [J ] . J Clin Oncol , 2010 , 28 ( 3 ): 387 - 391 .

SUN J , MENG H , YAO L , et al . Germline mutations in cancer susceptibility genes in a large series of unselected breast cancer patients [J ] . Clin Cancer Res , 2017 , 23 ( 20 ): 6113 - 6119 . DOI: 10.1158/1078-0432.CCR-16-3227 http://doi.org/10.1158/1078-0432.CCR-16-3227

胡震 , 李文凤 , 柳晓义 , 等 . 中国乳腺癌患者 BRCA1 基因的频发突变5589del8 [J ] . 中华医学遗传学杂志 , 2007 ( 4 ): 378 - 381 .

HU Z , LI W F , LIU X Y , et al . 5589del8: The recurrent mutation of BRCA1 gene in Chinese breast cancer patients [J ] . Chin J Med Genet , 2007 ( 4 ): 378 - 381 .

FAN Y , HE L J , WANG Y , et al . CLIP4 shows putative tumor suppressor characteristics in breast cancer: an integrated analysis [J ] . Front Mol Biosci , 2021 , 7 : 616190 .

PONTI G , DE ANGELIS C , PONTI R , et al . Hereditary breast and ovarian cancer: from genes to molecular targeted therapies [J ] . Crit Rev Clin Lab Sci , 2023 , 60 ( 8 ): 640 - 650 .

CHENG H H , SHEVACH J W , CASTRO E , et al . BRCA1 , BRCA2 , and associated cancer risks and management for male patients: a review [J ] . JAMA Oncol , 2024 , 10 ( 9 ): 1272 - 1281 .

FENG Z W , YANG X B , TIAN M W , et al . BRCA genes as candidates for colorectal cancer genetic testing panel: systematic review and meta-analysis [J ] . BMC Cancer , 2023 , 23 ( 1 ): 807 .

NAROD S A , METCALFE K , FINCH A , et al . The risk of skin cancer in women who carry BRCA1 or BRCA2 mutations [J ] . Hered Cancer Clin Pract , 2024 , 22 ( 1 ): 7 .

CHEN S N , PARMIGIANI G . Meta-analysis of BRCA1 and BRCA2 penetrance [J ] . J Clin Oncol , 2007 , 25 ( 11 ): 1329 - 1333 .

MAVADDAT N , PEOCK S , FROST D , et al . Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE [J ] . J Natl Cancer Inst , 2013 , 105 ( 11 ): 812 - 822 .

KUCHENBAECKER K B , HOPPER J L , BARNES D R , et al . Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers [J ] . JAMA , 2017 , 317 ( 23 ): 2402 - 2416 .

REBBECK T R , MITRA N , WAN F , et al . Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer [J ] . JAMA , 2015 , 313 ( 13 ): 1347 - 1361 .

BARNES D R , SILVESTRI V , LESLIE G , et al . Breast and prostate cancer risks for male BRCA1 and BRCA2 pathogenic variant carriers using polygenic risk scores [J ] . J Natl Cancer Inst , 2022 , 114 ( 1 ): 109 - 122 .

YAO L , SUN J , ZHANG J , et al . Breast cancer risk in Chinese women with BRCA1 or BRCA2 mutations [J ] . Breast Cancer Res Treat , 2016 , 156 ( 3 ): 441 - 445 .

WINTER C , NILSSON M P , OLSSON E , et al . Targeted sequencing of BRCA1 and BRCA2 across a large unselected breast cancer cohort suggests that one-third of mutations are somatic [J ] . Ann Oncol , 2016 , 27 ( 8 ): 1532 - 1538 .

ATCHLEY D P , ALBARRACIN C T , LOPEZ A , et al . Clinical and pathologic characteristics of patients with BRCA -positive and BRCA -negative breast cancer [J ] . J Clin Oncol , 2008 , 26 ( 26 ): 4282 - 4288 .

MAVADDAT N , BARROWDALE D , ANDRULIS I L , et al . Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) [J ] . Cancer Epidemiol Biomarkers Prev , 2012 , 21 ( 1 ): 134 - 147 .

COUCH F J , HART S N , SHARMA P , et al . Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer [J ] . J Clin Oncol , 2015 , 33 ( 4 ): 304 - 311 . DOI: 10.1200/JCO.2014.57.1414 http://doi.org/10.1200/JCO.2014.57.1414

JIANG M L , JIA K Y , WANG L , et al . Alterations of DNA damage response pathway: biomarker and therapeutic strategy for cancer immunotherapy [J ] . Acta Pharm Sin B , 2021 , 11 ( 10 ): 2983 - 2994 . DOI: 10.1016/j.apsb.2021.01.003 http://doi.org/10.1016/j.apsb.2021.01.003

PARKES E E , WALKER S M , TAGGART L E , et al . Activation of STING-dependent innate immune signaling by S-phase-specific DNA damage in breast cancer [J ] . J Natl Cancer Inst , 2016 , 109 ( 1 ): djw199.

LORD C J , ASHWORTH A . PARP inhibitors: synthetic lethality in the clinic [J ] . Science , 2017 , 355 ( 6330 ): 1152 - 1158 . DOI: 10.1126/science.aam7344 http://doi.org/10.1126/science.aam7344

FORMENT J V , O’CONNOR M J . Targeting the replication stress response in cancer [J ] . Pharmacol Ther , 2018 , 188 : 155 - 167 .

DOMCHEK S M , POSTEL-VINAY S , IM S A , et al . Olaparib and durvalumab in patients with germline BRCA -mutated metastatic breast cancer (MEDIOLA): an open-label, multicentre, phase 1/2, basket study [J ] . Lancet Oncol , 2020 , 21 ( 9 ): 1155 - 1164 .

LORD C J , ASHWORTH A . BRCA ness revisited [J ] . Nat Rev Cancer , 2016 , 16 ( 2 ): 110 - 120 . DOI: 10.1038/nrc.2015.21 http://doi.org/10.1038/nrc.2015.21

National Comprehensive Cancer Network . NCCN guidelines:prostate cancer (version 2. 2025) [EB/OL ] . [2025-07-14 ] . https://www.nccn.org/guidelines/guidelines-detail?category=1 & id=1459. https://www.nccn.org/guidelines/guidelines-detail?category=1&id=1459 https://www.nccn.org/guidelines/guidelines-detail?category=1&id=1459

BORDELEAU L , PANCHAL S , GOODWIN P . Prognosis of BRCA -associated breast cancer: a summary of evidence [J ] . Breast Cancer Res Treat , 2010 , 119 ( 1 ): 13 - 24 .

VERHOOG L C , BERNS E M , BREKELMANS C T , et al . Prognostic significance of germline BRCA2 mutations in hereditary breast cancer patients [J ] . J Clin Oncol , 2000 , 18 (21 Suppl): 119S-124S.

ZHONG Q , PENG H L , ZHAO X , et al . Effects of BRCA1 - and BRCA2 -related mutations on ovarian and breast cancer survival: a meta-analysis [J ] . Clin Cancer Res , 2015 , 21 ( 1 ): 211 - 220 .

BARETTA Z , MOCELLIN S , GOLDIN E , et al . Effect of BRCA germline mutations on breast cancer prognosis: a systematic review and meta-analysis [J ] . Medicine (Baltimore) , 2016 , 95 ( 40 ): e4975 .

COPSON E R , MAISHMAN T C , TAPPER W J , et al . Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study [J ] . Lancet Oncol , 2018 , 19 ( 2 ): 169 - 180 .

NILSSON M P , HARTMAN L , IDVALL I , et al . Long-term prognosis of early-onset breast cancer in a population-based cohort with a known BRCA1/2 mutation status [J ] . Breast Cancer Res Treat , 2014 , 144 ( 1 ): 133 - 142 .

MILLER R S , MOKIOU S , TAYLOR A , et al . Real-world clinical outcomes of patients with BRCA -mutated, human epidermal growth factor receptor 2 (HER2)-negative metastatic breast cancer: a CancerLinQ® study [J ] . Breast Cancer Res Treat , 2022 , 193 ( 1 ): 83 - 94 .

LIU M , XIE F , LIU M Y , et al . Association between BRCA mutational status and survival in patients with breast cancer: a systematic review and meta-analysis [J ] . Breast Cancer Res Treat , 2021 , 186 ( 3 ): 591 - 605 .

COLLINS J M , NORDSTROM B L , MCLAURIN K K , et al . A real-world evidence study of CDK4/6 inhibitor treatment patterns and outcomes in metastatic breast cancer by germline BRCA mutation status [J ] . Oncol Ther , 2021 , 9 ( 2 ): 575 - 589 .

WANG Y A , JIAN J W , HUNG C F , et al . Germline breast cancer susceptibility gene mutations and breast cancer outcomes [J ] . BMC Cancer , 2018 , 18 ( 1 ): 315 . DOI: 10.1186/s12885-018-4229-5 http://doi.org/10.1186/s12885-018-4229-5

TINTERRI C , DI MARIA GRIMALDI S , SAGONA A , et al . Comparison of long-term oncological results in young women with breast cancer between BRCA -mutation carriers versus non-carriers: how tumor and genetic risk factors influence the clinical prognosis [J ] . Cancers (Basel) , 2023 , 15 ( 16 ): 4177 .

National Comprehensive Cancer Network . NCCN guidelines: genetic/familial high-risk assessment: breast, ovarian, and pancreatic [EB/OL ] . [2025-07-14 ] . https://www.nccn.org/guidelines/guidelines-detail?category2 & id=1503. https://www.nccn.org/guidelines/guidelines-detail?category2&id=1503 https://www.nccn.org/guidelines/guidelines-detail?category2&id=1503

SESSA C , BALMAÑA J , BOBER S L , et al . Risk reduction and screening of cancer in hereditary breast-ovarian cancer syndromes: ESMO clinical practice guideline [J ] . Ann Oncol , 2023 , 34 ( 1 ): 33 - 47 .

LOIBL S , ANDRÉ F , BACHELOT T , et al . Early breast cancer: ESMO clinical practice guideline for diagnosis, treatment and follow-up [J ] . Ann Oncol , 2024 , 35 ( 2 ): 159 - 182 . DOI: 10.1016/j.annonc.2023.11.016 http://doi.org/10.1016/j.annonc.2023.11.016

BALMAÑA J , DÍEZ O , RUBIO I T , et al . BRCA in breast cancer: ESMO clinical practice guidelines [J ] . Ann Oncol , 2011 , 22 ( Suppl 6 ): vi31-vi34.

MANAHAN E R , KUERER H M , SEBASTIAN M , et al . Consensus guidelines on genetic testing for hereditary breast cancer from the American society of breast surgeons [J ] . Ann Surg Oncol , 2019 , 26 ( 10 ): 3025 - 3031 .

CAO W , XIE Y T , HE Y J , et al . Risk of ipsilateral breast tumor recurrence in primary invasive breast cancer following br east-conserving surgery with BRCA1 and BRCA2 mutation in China [J ] . Breast Cancer Res Treat , 2019 , 175 ( 3 ): 749 - 754 .

WAN Q T , SU L M , OUYANG T , et al . Comparison of survival after breast-conserving therapy vs mastectomy among patients with or without the BRCA1/2 variant in a large series of unselected Chinese patients with breast cancer [J ] . JAMA Netw Open , 2021 , 4 ( 4 ): e216259 .

VAN DEN BROEK A J , SCHMIDT M K , VAN ’T VEER L J , et al . Prognostic impact of breast-conserving therapy versus mastectomy of BRCA1/2 mutation carriers compared with noncarriers in a consecutive series of young breast cancer patients [J ] . Ann Surg , 2019 , 270 ( 2 ): 364 - 372 .

TUNG N M , BOUGHEY J C , PIERCE L J , et al . Management of hereditary breast cancer: American Society of Clinical Oncology, American Society for Radiation Oncology, and Society of Surgical Oncology guideline [J ] . J Clin Oncol , 2020 , 38 ( 18 ): 2080 - 2106 . DOI: 10.1200/JCO.20.00299 http://doi.org/10.1200/JCO.20.00299

VAN BARELE M , AKDENIZ D , HEEMSKERK-GERRITSEN B A M , et al . Contralateral breast cancer risk in patients with breast cancer and a germline- BRCA1/2 pathogenic variant undergoing radiation [J ] . J Natl Cancer Inst , 2023 , 115 ( 11 ): 1318 - 1328 .

PARK S , CHOI C , KIM H , et al . Olaparib enhances sensitization of BRCA -proficient breast cancer cells to x-rays and protons [J ] . Breast Cancer Res Treat , 2024 , 203 ( 3 ): 449 - 461 .

LOAP P , LOIRAT D , BERGER F , et al . Concurrent olaparib and radiotherapy in patients with triple-negative breast cancer: the phase 1 olaparib and radiation therapy for triple-negative breast cancer trial [J ] . JAMA Oncol , 2022 , 8 ( 12 ): 1802 - 1808 . DOI: 10.1001/jamaoncol.2022.5074 http://doi.org/10.1001/jamaoncol.2022.5074

VON MINCKWITZ G , SCHNEEWEISS A , LOIBL S , et al . Neoadjuvant carboplatin in patients with triple-negative and HER2 - positive early breast cancer (GeparSixto; GBG 66): a randomised phase 2 trial [J ] . Lancet Oncol , 2014 , 15 ( 7 ): 747 - 756 . DOI: 10.1016/S1470-2045(14)70160-3 http://doi.org/10.1016/S1470-2045(14)70160-3

FOULKES W D . BRCA1 and BRCA2 : Chemosensitivity, treatment outcomes and prognosis [J ] . Fam Cancer , 2006 , 5 ( 2 ): 135 - 142 .

DI LEO A , CLAUDINO W M , PESTRIN M , et al . Using specific cytotoxics with a targeted mind [J ] . Breast , 2007 , 16 ( Suppl 2 ): S120-S126.

KELLAND L . The resurgence of platinum-based cancer chemotherapy [J ] . Nat Rev Cancer , 2007 , 7 ( 8 ): 573 - 584 . DOI: 10.1038/nrc2167 http://doi.org/10.1038/nrc2167

BORST P , ROTTENBERG S , JONKERS J . How do real tumors become resistant to cisplatin? [J ] . Cell Cycle , 2008 , 7 ( 10 ): 1353 - 1359 . DOI: 10.4161/cc.7.10.5930 http://doi.org/10.4161/cc.7.10.5930

HELLEDAY T , PETERMANN E , LUNDIN C , et al . DNA repair pathways as targets for cancer therapy [J ] . Nat Rev Cancer , 2008 , 8 ( 3 ): 193 - 204 . DOI: 10.1038/nrc2342 http://doi.org/10.1038/nrc2342

MARTIN S A , LORD C J , ASHWORTH A . DNA repair deficiency as a therapeutic target in cancer [J ] . Curr Opin Genet Dev , 2008 , 18 ( 1 ): 80 - 86 . DOI: 10.1016/j.gde.2008.01.016 http://doi.org/10.1016/j.gde.2008.01.016

GROELLY F J , FAWKES M , DAGG R A , et al . Targeting DNA damage response pathways in cancer [J ] . Nat Rev Cancer , 2023 , 23 : 78 - 94 .

O’CONNOR M J . Targeting the DNA damage response in cancer [J ] . Mol Cell , 2015 , 60 ( 4 ): 547 - 560 . DOI: 10.1016/j.molcel.2015.10.040 http://doi.org/10.1016/j.molcel.2015.10.040

POLYAK K , GARBER J . Targeting the missing links for cancer therapy [J ] . Nat Med , 2011 , 17 ( 3 ): 283 - 284 . DOI: 10.1038/nm0311-283 http://doi.org/10.1038/nm0311-283

TUTT A N J , GARBER J E , KAUFMAN B , et al . Adjuvant olaparib for patients with BRCA1 - or BRCA2 -mutated breast cancer [J ] . N Engl J Med , 2021 , 384 ( 25 ): 2394 - 2405 .

GEYER C E JR , GARBER J E , GELBER R D , et al . Overall survival in the OlympiA phase Ⅲ trial of adjuvant olaparib in patients with germline pathogenic variants in BRCA1/2 and high-risk, early breast cancer [J ] . Anna Oncol , 2022 , 33 ( 12 ): 1250 - 1268 .

JUDY E , GARBER E A . DDFS and OS Pre-specified analyses of IDFS, 10 years from First Patient In (FPI) in the OlympiA trial of adjuvant olaparib in germline BRCA1/2 mutation-associated breast cancer [C ] . SABCS : San Antonio , 2024 : GS1 - 09 .

STONE N J . RACING to judgement: weighing the value of pre-specified subgroup analyses [J ] . Eur Heart J , 2023 , 44 ( 11 ): 984 - 985 . DOI: 10.1093/eurheartj/ehac782 http://doi.org/10.1093/eurheartj/ehac782

SCHMID P , CORTES J , DENT R , et al . Event-free survival with pembrolizumab in early triple-negative breast cancer [J ] . N Engl J Med , 2022 , 386 ( 6 ): 556 - 567 .

O’SHAUGHNESSY J , CORTES J , DENT R , et al . Exploratory biomarker analysis of the phase 3 KEYNOTE-522 study of neoadjuvant pembrolizumab or placebo plus chemotherapy followed by adjuvant pembrolizumab or placebo for early-stage TNBC [J ] . Clin Cancer Res , 2025 , 31 ( 12_suppl ): LB1 - 07 .

PUSZTAI L , YAU C , WOLF D M , et al . Durvalumab with olaparib and paclitaxel for high-risk HER2 - negative stage Ⅱ/Ⅲ breast cancer: results from the adaptively randomized I-SPY2 trial [J ] . Cancer Cell , 2021 , 39 ( 7 ): 989 - 998 . e5.

MASUDA N , LEE S J , OHTANI S , et al . Adjuvant capecitabine for breast cancer after preoperative chemotherapy [J ] . N Engl J Med , 2017 , 376 ( 22 ): 2147 - 2159 .

LLUCH A , BARRIOS C H , TORRECILLAS L , et al . Phase Ⅲ trial of adjuvant capecitabine after standard neo-/adjuvant chemotherapy in patients with early triple-negative breast cancer (GEICAM/2003-11_CIBOMA/2004-01) [J ] . J Clin Oncol , 2020 , 38 ( 3 ): 203 - 213 .

NETWORK C G A . Comprehensive molecular portraits of human breast tumours [J ] . Nature , 2012 , 490 ( 7418 ): 61 - 70 .

YU K D , YE F G , HE M , et al . Effect of adjuvant paclitaxel and carboplatin on survival in women with triple-negative breast cancer: a phase 3 randomized clinical trial [J ] . JAMA Oncol , 2020 , 6 ( 9 ): 1390 - 1396 .

HAHNEN E , LEDERER B , HAUKE J , et al . Germline mutation status, pathological complete response, and disease-free survival in triple-negative breast cancer: secondary analysis of the GeparSixto randomized clinical trial [J ] . JAMA Oncol , 2017 , 3 ( 10 ): 1378 - 1385 . DOI: 10.1001/jamaoncol.2017.1007 http://doi.org/10.1001/jamaoncol.2017.1007

ABRAHAM J E , PINILLA K , DAYIMU A , et al . The PARTNER trial of neoadjuvant olaparib with chemotherapy in triple-negative breast cancer [J ] . Nature , 2024 , 629 ( 8014 ): 1142 - 1148 .

ROBSON M , IM S A , SENKUS E , et al . Olaparib for metastatic breast cancer in patients with a germline BRCA mutation [J ] . N Engl J Med , 2017 , 377 ( 6 ): 523 - 533 .

LITTON J K , RUGO H S , ETTL J , et al . Talazoparib in patients with advanced breast cancer and a germline BRCA mutation [J ] . N Engl J Med , 2018 , 379 ( 8 ): 753 - 763 .

DIÉRAS V , HAN H S , KAUFMAN B , et al . Veliparib with carboplatin and paclitaxel in BRCA -mutated advanced breast cancer (BROCADE3): a randomised, double-blind, placebo-controlled, phase 3 trial [J ] . Lancet Oncol , 2020 , 21 ( 10 ): 1269 - 1282 .

ROBSON M E , TUNG N , CONTE P , et al . OlympiAD final overall survival and tolerability results: olaparib versus chemotherapy treatment of physician’s choice in patients with a germline BRCA mutation and HER2 - negative metastatic breast cancer [J ] . Ann Oncol , 2019 , 30 ( 4 ): 558 - 566 .

IMYANITOV E N . Breast cancer therapy for BRCA1 carriers: moving towards platinum standard? [J ] . Hered Cancer Clin Pract , 2009 , 7 ( 1 ): 8 .

TUTT A , TOVEY H , CHEANG M C U , et al . Carboplatin in BRCA1/2 -mutated and triple-negative breast cancer BRCA ness subgroups: the TNT Trial [J ] . Nat Med , 2018 , 24 ( 5 ): 628 - 637 .

ISAKOFF S J , MAYER E L , HE L , et al . TBCRC009: a multicenter phase Ⅱ clinical trial of platinum monotherapy with biomarker assessment in metastatic triple-negative breast cancer [J ] . J Clin Oncol , 2015 , 33 ( 17 ): 1902 - 1909 .

CHEN Y M , WANG X , DU F , et al . Association between homologous recombination deficiency and outcomes with platinum and platinum-free chemotherapy in patients with triple-negative breast cancer [J ] . Cancer Biol Med , 2023 , 20 ( 2 ): 155 - 168 .

DESMEDT C , TURNER N , ARTEAGA C , et al . Analysis of germline BRCA1/2 mutations and uncommon somatic alterations from patients with HR + , HER2 - , node-positive, high-risk early breast cancer enrolled in monarchE [J ] . ESMO Open , 2024 , 9 : 103013 .

LI Q , CAI Y , LI J . Ribociclib plus endocrine therapy in early breast cancer [J ] . N Engl J Med , 2024 , 390 ( 23 ): 2220 .

LOI S , CURIGLIANO G , SALGADO R F , et al . A randomized, double-blind trial of nivolumab (NIVO) vs p lacebo (PBO) with neoadjuvant chemotherapy (NACT) followed by adjuvant endocrine therapy (ET)±NIVO in patients (pts) with high-risk, ER+ HER2- primary breast cancer (BC) [J ] . Ann Oncol , 2023 , 34 : S1259-S1260.

CARDOSO F , MCARTHUR H L , SCHMID P , et al . Phase Ⅲ study of neoadjuvant pembrolizumab (pembro) or placebo (pbo) + chemotherapy (chemo), followed by adjuvant pembro or pbo+endocrine therapy (ET) for early-stage high-risk ER+/HER2- breast cancer [J ] . Ann Oncol , 2023 , 34 : S1260-S1261.

GELMON K A , FASCHING P A , COUCH F J , et al . Clinical effectiveness of olaparib monotherapy in germline BRCA -mutated, HER2 - negative metastatic breast cancer in a real-world setting: phase Ⅲb LUCY interim analysis [J ] . Eur J Cancer , 2021 , 152 : 68 - 77 .

FRENEL J S , DALENC F , PISTILLI B , et al . 304P ESR1 mutations and outcomes in BRCA1/2 or PALB2 germline mutation carriers receiving first line aromatase inhibitor+palbociclib (AI+P) for metastatic breast cancer (MBC) in the PADA-1 trial [J ] . Ann Oncol , 2020 , 31: S364.

YAN S C , IMAM M . Progress and prospects in research and clinical practice of hormone receptor-positive, HER-2-negative breast cancer with BRCA1/2 mutations [J ] . Discov Oncol , 2023 , 14 ( 1 ): 110 .

TORRES A , KOKKONEN C , OLADEJI M , et al . Harnessing olaparib, palbociclib, and endocrine therapy (HOPE): phase Ⅰ/Ⅱ trial of olaparib, palbociclib and fulvestrant in patients with BRCA1/2 -associated, hormone receptor-positive, HER2 - negative metastatic breast cancer [J ] . Cancer Res , 2022 , 82 ( 4_suppl ): OT2-18-01.

GOLDLUST I S , GUIDICE E , LEE J M . PARP inhibitors in ovarian cancer [J ] . Semin Oncol , 2024 , 51 ( 1/2 ): 45 - 57 .

ANTOLIN A A , AMERATUNGA M , BANERJI U , et al . The kinase polypharmacology landscape of clinical PARP inhibitors [J ] . Sci Rep , 2020 , 10 ( 1 ): 2585 . DOI: 10.1038/s41598-020-59074-4 http://doi.org/10.1038/s41598-020-59074-4

SANDHU D , ANTOLIN A A , COX A R , et al . Identification of different side effects between PARP inhibitors and their polypharmacological multi-target rationale [J ] . Br J Clin Pharmacol , 2022 , 88 ( 2 ): 742 - 752 .

中国医师协会泌尿外科医师分会共识专家组 . PARP抑制剂治疗前列腺癌不良反应预防及管理中国专家共识 [J ] . 临床泌尿外科杂志 , 2022 , 37 ( 7 ): 489 - 497 .

Expert Group of Chinese Urological Doctor Association . Chinese expert consensus on prevention and management of adverse effects during PARP inhibitor treatment of patients with prostate cancer [J ] . J Clin Urol , 2022 , 37 ( 7 ): 489 - 497 .

中国抗癌协会妇科肿瘤专业委员会 . PARP抑制剂不良反应管理的中国专家共识(2021年版) [J ] . 中国实用妇科与产科杂志 , 2021 , 37 ( 11 ): 1119 - 1130 .

Gynecologic Oncology Special Committee of China Anticancer Association . Chinese expert consensus on management of adverse events of PARP inhibitor (2021 edition) [J ] . Chin J Pract Gynecol Obstet , 2021 , 37 ( 11 ): 1119 - 1130 .

KUHL C K , SCHRADING S , LEUTNER C C , et al . Mammography, breast ultrasound, and magnetic resonance imaging for surveillance of women at high familial risk for breast cancer [J ] . J Clin Oncol , 2005 , 23 ( 33 ): 8469 - 8476 . DOI: 10.1200/JCO.2004.00.4960 http://doi.org/10.1200/JCO.2004.00.4960

RIEDL C C , PONHOLD L , FLÖRY D , et al . Magnetic resonance imaging of the breast improves detection of invasive cancer, preinvasive cancer, and premalignant lesions during surveillance of women at high risk for breast cancer [J ] . Clin Cancer Res , 2007 , 13 ( 20 ): 6144 - 6152 .

SARDANELLI F , PODO F , D’AGNOLO G , et al . Multicenter comparative multimodality surveillance of women at genetic-familial high risk for breast cancer (HIBCRIT study): interim results [J ] . Radiology , 2007 , 242 ( 3 ): 698 - 715 . DOI: 10.1148/radiol.2423051965 http://doi.org/10.1148/radiol.2423051965

PASSAPERUMA K , WARNER E , CAUSER P A , et al . Long-term results of screening with magnetic resonance imaging in women with BRCA mutations [J ] . Br J Cancer , 2012 , 107 ( 1 ): 24 - 30 .

WARNER E , PLEWES D B , HILL K A , et al . Surveillance of BRCA1 and BRCA2 mutation carriers with magnetic resonance imaging, ultrasound, mammography, and clinical breast examination [J ] . JAMA , 2004 , 292 ( 11 ): 1317 - 1325 .

WARNER E , HILL K , CAUSER P , et al . Prospective study of breast cancer incidence in women with a BRCA1 or BRCA2 mutation under surveillance with and without magnetic resonance imaging [J ] . J Clin Oncol , 2011 , 29 ( 13 ): 1664 - 1669 .

PLEVRITIS S K , KURIAN A W , SIGAL B M , et al . Cost-effectiveness of screening BRCA1/2 mutation carriers with breast magnetic resonance imaging [J ] . JAMA , 2006 , 295 ( 20 ): 2374 - 2384 .

SARDANELLI F , PODO F , SANTORO F , et al . Multicenter surveillance of women at high genetic breast cancer risk using mammography, ultrasonography, and contrast-enhanced magnetic resonance imaging (the high breast cancer risk Italian 1 study): final results [J ] . Invest Radiol , 2011 , 46 ( 2 ): 94 - 105 . DOI: 10.1097/RLI.0b013e3181f3fcdf http://doi.org/10.1097/RLI.0b013e3181f3fcdf

CARBINE N E , LOSTUMBO L , WALLACE J , et al . Risk-reducing mastectomy for the prevention of primary breast cancer [J ] . Cochrane Database Syst Rev , 2018 , 4 ( 4 ): CD002748.

BLONDEAUX E , SONNENBLICK A , AGOSTINETTO E , et al . Association between risk-reducing surgeries and survival in young BRCA carriers with breast cancer: an international cohort study [J ] . Lancet Oncol , 2025 , 26 ( 6 ): 759 - 770 .

ROSENTHAL A N , FRASER L S M , PHILPOTT S , et al . Evidence of stage shift in women diagnosed with ovarian cancer during phase Ⅱ of the United Kingdom familial ovarian cancer screening study [J ] . J Clin Oncol , 2017 , 35 ( 13 ): 1411 - 1420 .

SKATES S J , GREENE M H , BUYS S S , et al . Early detection of ovarian cancer using the risk of ovarian cancer algorithm with frequent CA125 testing in women at increased familial risk-combined results from two screening trials [J ] . Clin Cancer Res , 2017 , 23 ( 14 ): 3628 - 3637 .

FRIEBEL T M , DOMCHEK S M , REBBECK T R . Modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: systematic review and meta-analysis [J ] . J Natl Cancer Inst , 2014 , 106 ( 6 ): dju091.

FINCH A P M , LUBINSKI J , MØLLER P , et al . Impact of oophorectomy on cancer incidence and mortality in women with a BRCA1 or BRCA2 mutation [J ] . J Clin Oncol , 2014 , 32 ( 15 ): 1547 - 1553 .

MORAN A , O’HARA C , KHAN S , et al . Risk of cancer other than breast or ovarian in individuals with BRCA1 and BRCA2 mutations [J ] . Fam Cancer , 2012 , 11 ( 2 ): 235 - 242 .

LI S , SILVESTRI V , LESLIE G , et al . Cancer risks associated with BRCA1 and BRCA2 pathogenic variants [J ] . J Clin Oncol , 2022 , 40 ( 14 ): 1529 - 1541 .

DBOUK M , KATONA B W , BRAND R E , et al . The multicenter cancer of pancreas screening study: impact on stage and survival [J ] . J Clin Oncol , 2022 , 40 ( 28 ): 3257 - 3266 .

BUONOMO B , MASSAROTTI C , DELLINO M , et al . Reproductive issues in carriers of germline pathogenic variants in the BRCA1/2 genes: an expert meeting [J ] . BMC Med , 2021 , 19 ( 1 ): 205 .

LAMBERTINI M , PECCATORI F A , DEMEESTERE I , et al . Fertility preservation and post-treatment pregnancies in post-pubertal cancer patients: ESMO clinical practice guidelines [J ] . Ann Oncol , 2020 , 31 ( 12 ): 1664 - 1678 . DOI: 10.1016/j.annonc.2020.09.006 http://doi.org/10.1016/j.annonc.2020.09.006

VUKOVIĆ P , PECCATORI F A , MASSAROTTI C , et al . Preimplantation genetic testing for carriers of BRCA1/2 pathogenic variants [J ] . Crit Rev Oncol Hematol , 2021 , 157 : 103201 .

KING M C , WIEAND S , HALE K , et al . Tamoxifen and breast cancer incidence among women with inherited mutations in BRCA1 and BRCA2 : National Surgical Adjuvant Breast and Bowel Project (NSABP-P1) breast cancer prevention trial [J ] . JAMA , 2001 , 286 ( 18 ): 2251 - 2256 .

CUZICK J , FORBES J , EDWARDS R , et al . First results from the International Breast Cancer Intervention Study (IBIS-I): a randomised prevention trial [J ] . Lancet , 200 , 360 ( 9336 ): 817 - 24 .

VOGEL V G . The NSABP Study of Tamoxifen and Raloxifene (STAR) trial [J ] . Expert Rev Anticancer Ther , 2009 , 9 ( 1 ): 51 - 60 .

INGLE J N , LIU M H , LAWRENCE WICKERHAM D , et al . Selective estrogen receptor modulators and pharmacogenomic variation in ZNF423 regulation of BRCA1 expression: individualized breast cancer prevention [J ] . Cancer Discov , 2013 , 3 ( 7 ): 812 - 825 .

CUZICK J , SESTAK I , FORBES J F , et al . Anastrozole for prevention of breast cancer in high-risk postmenopausal women (IBIS-Ⅱ): an international, double-blind, randomised placebo-controlled trial [J ] . Lancet , 2014 , 383 ( 9922 ): 1041 - 1048 .

GOSS P E , INGLE J N , ALÉS-MARTÍNEZ J E , et al . Exemestane for breast-cancer prevention in postmenopausal women [J ] . N Engl J Med , 2011 , 364 ( 25 ): 2381 - 2391 .

NEMATI SHAFAEE M , GOUTSOULIAK K , LIN H , et al . Aromatase inhibitors and contralateral breast cancer in BRCA mutation carriers [J ] . Breast Cancer Res Treat , 2022 , 196 ( 1 ): 143 - 152 .

BARAŃSKA A , KANADYS W . Oral contraceptive use and breast cancer risk for BRCA1 and BRCA2 mutation carriers: systematic review and meta-analysis of case-control studies [J ] . Cancers (Basel) , 2022 , 14 ( 19 ): 4774 .

HARTMANN L C , SCHAID D J , WOODS J E , et al . Efficacy of bilateral prophylactic mastectomy in women with a family history of breast cancer [J ] . N Engl J Med , 1999 , 340 ( 2 ): 77 - 84 .

HARTMANN L C , SELLERS T A , SCHAID D J , et al . Efficacy of bilateral prophylactic mast ectomy in BRCA1 and BRCA2 gene mutation carriers [J ] . J Natl Cancer Inst , 2001 , 93 ( 21 ): 1633 - 1637 .

MEIJERS-HEIJBOER H , VAN GEEL B , VAN PUTTEN W L , et al . Breast cancer after prophylactic bilateral mastectomy in women with a BRCA1 or BRCA2 mutation [J ] . N Engl J Med , 2001 , 345 ( 3 ): 159 - 164 .

REBBECK T R , FRIEBEL T , LYNCH H T , et al . Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group [J ] . J Clin Oncol , 2004 , 22 ( 6 ): 1055 - 1062 .

TEOH V , TASOULIS M K , GUI G . Contralateral prophylactic mastectomy in women with unilateral breast cancer who are genetic carriers, have a strong family history or are just young at presentation [J ] . Cancers (Basel) , 2020 , 12 ( 1 ): 140 .

METCALFE K , LUBINSKI J , SOUKUPOVÁ J , et al . Abstract GS02-04: Surgical treatment of women with breast cancer and a BRCA1 mutation: an international analysis of the impact of bilateral mastectomy on survival [J ] . Cancer Res , 2024 , 84 ( 9_Supplement ): GS02-4-GS02-04.

SUN J , CHU F T , PAN J N , et al . BRCA -CRisk: a contralateral breast cancer risk prediction model for BRCA carriers [J ] . J Clin Oncol , 2023 , 41 ( 5 ): 991 - 999 .

SANTOSA K B , OLIVER J D , MOMOH A O . Contralateral prophylactic mastectomy and implications for breast reconstruction [J ] . Gland Surg , 2021 , 10 ( 1 ): 498 - 506 . DOI: 10.21037/gs.2020.03.15 http://doi.org/10.21037/gs.2020.03.15

CONTANT C M E , MENKE-PLUIJMERS M B E , SEYNAEVE C , et al . Clinical experience of prophylactic mastectomy followed by immediate breast reconstruction in women at hereditary risk of breast cancer (HB(O)C) or a proven BRCA1 and BRCA2 germ-line mutation [J ] . Eur J Surg Oncol EJSO , 2002 , 28 ( 6 ): 627 - 632 .

KOTSOPOULOS J , GRONWALD J , HUZARSKI T , et al . Bilateral oophorectomy and all-cause mortality in women with BRCA1 and BRCA2 sequence variations [J ] . JAMA Oncol , 2024 , 10 ( 4 ): 484 - 492 .

CONDUIT C , MILNE R L , FRIEDLANDER M L , et al . Bilateral salpingo-oophorectomy and breast cancer risk for BRCA1 and BRCA2 mutation carriers: assessing the evidence [J ] . Cancer Prev Res (Phila) , 2021 , 14 ( 11 ): 983 - 994 .

CHOI Y H , TERRY M B , DALY M B , et al . Association of risk-reducing salpingo-oophorectomy with breast cancer risk in women with BRCA1 and BRCA2 pathogenic variants [J ] . JAMA Oncol , 2021 , 7 ( 4 ): 585 - 592 .

AZIZ N , ZHAO Q , BRY L , et al . College of American Pathologists’ laboratory standards for next-generation sequencing clinical tests [J ] . Arch Pathol Lab Med , 2015 , 139 ( 4 ): 481 - 493 .

《临床分子病理实验室二代基因测序检测专家共识》编写组 . 临床分子病理实验室二代基因测序检测专家共识 [J ] . 中华病理学杂志 , 2017 , 46 ( 3 ): 145 - 148 .

Panel members of expert consensus on next-generation sequencing in clinical molecular pathology laboratories . Expert consensus on second-generation gene sequencing detection in clinical molecular pathology laboratory [J ] . Chin J Pathol , 2017 , 46 ( 3 ): 145 - 148 .

中国临床肿瘤学会肿瘤标志物专家委员会, 中国肿瘤驱动基因分析联盟 . 二代测序技术在肿瘤精准医学诊断中的应用专家共识 [J ] . 中华医学杂志 , 2018 , 98 ( 26 ): 2057 - 2065 .

Chinese Society of Clinical Oncology Committee on Tumor Markers, China Driver Gene Analysis Consortium . Expert consensus on the application of second-generation sequencing technology in accurate medical diagnosis of tumors [J ] . Natl Med J China , 2018 , 98 ( 26 ): 2057 - 2065 .

《基于下一代测序技术的 BRCA1/2 基因检测指南(2019版)》编写组 . 基于下一代测序技术的 BRCA1/2 基因检测指南(2019版) [J ] . 中华病理学杂志 , 2019 , 48 ( 9 ): 670 - 677 .

Working Group of Guideline on Next-Generation Sequencing-Based BRCA1/2 Testing (2019) . Guideline on next-generation sequencing-based BRCA1/2 testing (2019) [J ] . Chin J Pathol , 2019 , 48 ( 9 ): 670 - 677 .

国家药品监督管理局 . BRCA 基因突变检测试剂盒及数据库通用技术要求(高通量测序法): YY/T 1865—2022 [S ] . 北京 : 中国标准出版社 , 2022 .

National Medical Products Administration . General technical requirements for BRCA gene mutation detection reagent kits and databases (high-throughput sequencing): YY/T 1865—2022 [S ] . Beijing : Standards Press of China , 2022 .

REHDER C , BEAN L J H , BICK D , et al . Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG) [J ] . Genet Med , 2021 , 23 ( 8 ): 1399 - 1415 . DOI: 10.1038/s41436-021-01139-4 http://doi.org/10.1038/s41436-021-01139-4

中华医学会病理学分会, 国家病理质控中心 . BRCA1/2 数据解读中国专家共识(2021版) [J ] . 中华病理学杂志 , 2021 , 50 ( 6 ): 565 - 571 .

Chinese Society of Pathology, Chinese Pathology Quality Control Center . Chinese expert consensus on BRCA1/2 variant interpretation(2021 version) [J ] . Chin J Pathol , 2021 , 50 ( 6 ): 565 - 571 .

黄辉 , 沈亦平 , 顾卫红 , 等 . 临床基因检测报告规范与基因检测行业共识探讨 [J ] . 中华医学遗传学杂志 , 2018 , 35 ( 1 ): 1 - 8 .

HUANG H , SHEN Y P , GU W H , et al . Discussion on the standard of clinical genetic testing report and the consensus of gene testing industry [J ] . Chin J Med Genet , 2018 , 35 ( 1 ): 1 - 8 .

RICHARDS S , AZIZ N , BALE S , et al . Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology [J ] . Genet Med , 2015 , 17 ( 5 ): 405 - 424 . DOI: 10.1038/gim.2015.30 http://doi.org/10.1038/gim.2015.30

SPURDLE A B , HEALEY S , DEVEREAU A , et al . ENIGMA evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes [J ] . Hum Mutat , 2012 , 33 ( 1 ): 2 - 7 .

Views

3655

下载量

CSCD

Alert me when the article has been cited

提交

Tools

Publicity Resources

Chinese consensus of cardio-oncology in breast cancer

Expert consensus on neoadjuvant treatment of breast cancer in China (2022 edition)

Research progress on circulating tumor cells and their detection in colorectal cancer

Guidelines for breast cancer diagnosis and treatment by China Anti-Cancer Association (2026 edition)

Progress and prospects of CENPA-driven chromosomal instability in breast cancer: mechanisms, prognostic implications, and therapeutic perspectives

Related Author

Zan SHEN

Zhimin SHAO

Branch Cancer Support Rehabilitation Therapy Group of Chinese Medical Association Oncology

Treatment Consensus the Drafting Committee of China Breast Cancer Related Heart Disease Diagnosis and

Expert group of expert consensus on neoadjuvant treatment of breast cancer in China (2022 edition)

孙文洁

章　真

The Society of Breast Cancer China Anti-Cancer Association

Related Institution

Department of Oncology, Affiliated Sixth People's Hospital, Shanghai Jiao Tong University

Department of Breast Surgery, Fudan University Shanghai Cancer Center, Department of Oncology, Shanghai Medical College, Fudan University

复旦大学附属肿瘤医院放疗科，复旦大学上海医学院肿瘤学系

Department of Breast Surgery, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College

Department of Breast Surgery, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital& Shenzhen Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College

AI问答

⁰

Expert consensus on BRCA1/2 gene testing and clinical application in Chinese breast cancer patients (2025 edition)

DOI：10.19401/j.cnki.1007-3639.2025.07.010

摘要

Abstract

关键词

Keywords

references