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The review emphasizes the need to confirm HRD-related gene status and highlights ARID1A, ATM, ATRX, PALB2, BARD1, RAD51C, and CHEK2 as HRD-related genes suited to simultaneous panel examination. It outlines screening strategies based on family history, HRD scoring, and MRI-based monitoring for high-risk individuals, while noting the need for large-scale real-world databases to clarify gene-specific clinical behavior and to validate benefits over BRCA.",{"@graph":14,"@context":73},[15,34,56],{"@type":16,"itemListElement":17},"BreadcrumbList",[18,23,27,31],{"item":19,"name":20,"@type":21,"position":22},"https://docshare.wps.com","Home","ListItem",1,{"item":24,"name":25,"@type":21,"position":26},"https://docshare.wps.com/document/","Document",2,{"item":28,"name":29,"@type":21,"position":30},"https://docshare.wps.com/document/healthcare/","Healthcare",3,{"item":32,"name":10,"@type":21,"position":33},"https://docshare.wps.com/document/causative-genes-of-homologous-recombination-deficiency-hrd-related-breast-cancer-and-specific-strategies-at-present/364527/",4,{"url":32,"name":10,"@type":35,"image":36,"author":41,"headline":10,"publisher":44,"fileFormat":47,"inLanguage":8,"description":12,"dateModified":48,"datePublished":49,"encodingFormat":47,"isAccessibleForFree":50,"interactionStatistic":51},"DigitalDocument",{"url":37,"@type":38,"width":39,"height":40},"https://docshare.wps.com/thumbnails/causative-genes-of-homologous-recombination-deficiency-hrd-related-breast-cancer-and-specific-strategies-at-present/364527.png","ImageObject",300,407,{"name":42,"@type":43},"Liam","Person",{"url":19,"name":45,"@type":46},"DocShare","Organization","application/pdf","2026-10-28","2026-09-23",true,{"@type":52,"interactionType":53,"userInteractionCount":55},"InteractionCounter",{"@type":54},"ViewAction",10,{"@type":57,"mainEntity":58},"FAQPage",[59,65,69],{"name":60,"@type":61,"acceptedAnswer":62},"Why is homologous recombination deficiency (HRD) considered a new target in hereditary cancers?","Question",{"text":63,"@type":64},"HRD has become a new target because it relates to the genetic mechanisms underlying hereditary cancers, and it informs treatment options such as PARP inhibitors.","Answer",{"name":66,"@type":61,"acceptedAnswer":67},"Which HRD-related genes are highlighted as suitable for panel testing?",{"text":68,"@type":64},"ARID1A, ATM, ATRX, PALB2, BARD1, RAD51C, and CHEK2 are described as HRD-related genes where simultaneous examination as part of panel testing is more suitable.",{"name":70,"@type":61,"acceptedAnswer":71},"How should clinicians approach screening when HRD-related genes are suspected?",{"text":72,"@type":64},"The review recommends examining HRD-related genes when hereditary nature is in doubt after family history assessment, using HRD score examination as an initial step and applying high-risk MRI surveillance when lifetime risk exceeds 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 \nSeigo Nakamura 1,2,*, Yasuyuki Kojima 1,2 and Sayoko Takeuchi 1  \nReceived: 27 November 2024  \nRevised: 29 January 2025  \nAccepted: 30 January 2025  \nPublished: 6 February 2025  \nCitation: Nakamura, S.; Kojima, Y.; Takeuchi, S. Causative Genes of Homologous Recombination Deficiency (HRD)-Related Breast Cancer and Specific Strategies at Present. Curr. Oncol. 2025, 32, 90 . [https://doi.org/10.3390/](https://doi.org/10.3390/)[ ](https://doi.org/10.3390/)curroncol32020090  \nCopyright: © 2025 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license ([https://creativecommons.org/](https://creativecommons.org/)[ ](https://creativecommons.org/)[licenses/by/4.0/](licenses/by/4.0/)) .  \n1 Institute for Clinical Genetics and Genomics, Showa University, Tokyo 142-8555, Japan; [yasucozy_8@med.showa-u.ac.jp](yasucozy_8@med.showa-u.ac.jp) (Y.K.); [sayocgg@med.showa-u.ac.jp](sayocgg@med.showa-u.ac.jp) (S.T.)  \n2 Division of Breast Surgical Oncology, Department of Surgery, Showa University, Tokyo 142-8666, Japan  \n* Correspondence: [seigonak@med.showa-u.ac.jp](seigonak@med.showa-u.ac.jp); Tel.: +81-3-3784-8000  \nAbstract: Recently, homologous recombination deficiency (HRD) has become a new target for hereditary cancers. Molecular-based approaches for hereditary cancers in the clinical setting have been reviewed. In particular, the efficacy of the PARP inhibitor has been considered by several clinical trials for various kinds of hereditary cancers. This indicates that the PARP inhibitor can be effective for any kind of BRCA mutated cancers, regardless of the organ-specific cancer. Homologous recombination deficiency (HRD) has become a new target for hereditary cancers, indicating the necessity to confirm the status of HRD-related genes. ARID1A, ATM, ATRX, PALB2, BARD1, RAD51C and CHEK2 are known as HRDrelated genes for which simultaneous examination as part of panel testing is more suitable. Both surgical and medical oncologists should learn the basis of genetics including HRD. An understanding of the basic mechanism of homologous repair recombination (HRR) in BRCA-related breast cancer is mandatory for all surgical or medical oncologists because PARP inhibitors may be effective for these cancers and a specific strategy of screening for non-cancers exists. The clinical behavior of each gene should be clarified based on a largescale database in the future, or, in other words, on real-world data. Firstly, HRD-related genes should be examined when the hereditary nature of a cancer is placed in doubt after an examination of the relevant family history. Alternatively, HRD score examination is a solution by which to identify HRD-related genes at the first step. If lifetime risk is estimated at over 20%, an annual breast MRI is necessary for high-risk screening. However, there are limited data to show its benefit compared with BRCA. Therefore, a large-scale database, including clinical information and a long-term follow-up should be established, after which a periodical assessment is mandatory. The clinical behavior of each gene should be clarified based on a large-scale database, or, in other words, real-world data.  \nKeywords: HRD-related genes; BRCA; PARP inhibitor  \n1. Introduction  \nFor the past three decades, hereditary breast and ovarian cancer (HBOC) has been a major topic for breast surgeons [1,2] .  \nBRCA genes are a subset of homologous recombination deficiency (HRD)-related genes, which are associated with an increased risk of developing breast, ovarian, and other cancers. The BRCA1 and BRCA2 genes code for proteins that play a critical role in DNA repair, specifically in the process of homologous recombination. When these genes are mutated or altered, cells become more susceptible to D","cbCaiszIWRHVZj90","https://ap.wps.com/l/cbCaiszIWRHVZj90","pdf",823051,13,"English","# Abstract\n# Introduction\n## Hereditary breast and ovarian cancer (HBOC)\n## BRCA genes and associated cancer risk\n## Surveillance and risk-reduction strategies\n## Genetic testing trends and value","[{\"question\":\"Why is homologous recombination deficiency (HRD) considered a new target in hereditary cancers?\",\"answer\":\"HRD has become a new target because it relates to the genetic mechanisms underlying hereditary cancers, and it informs treatment options such as PARP inhibitors.\"},{\"question\":\"Which HRD-related genes are highlighted as suitable for panel testing?\",\"answer\":\"ARID1A, ATM, ATRX, PALB2, BARD1, RAD51C, and CHEK2 are described as HRD-related genes where simultaneous examination as part of panel testing is more suitable.\"},{\"question\":\"How should clinicians approach screening when HRD-related genes are suspected?\",\"answer\":\"The review recommends examining HRD-related genes when hereditary nature is in doubt after family history assessment, using HRD score examination as an initial step and applying high-risk MRI surveillance when lifetime risk exceeds 20%.\"}]","Causative Genes of Homologous Recombination Deficiency (HRD)-Related Breast Cancer and Specific Strategies at Present | PDF",1790157977,33]