Study findings to be presented at the 2024 ASCO Annual Meeting find hereditary risk for gastric and lung cancers, among others, underscoring the need for broader genetic testing

将在2024年ASCO年会上发表的研究结果发现胃癌和肺癌的遗传风险，以及其他因素，强调需要进行更广泛的基因检测

SAN FRANCISCO, May 23, 2024 /PRNewswire/ -- Invitae (OTC:NVTAQ), a leading medical genetics company, today announced eight studies to be presented at the 2024 American Society of Clinical Oncology (ASCO) Annual Meeting held in Chicago from May 31-June 4, 2024. The clinical data being presented demonstrate the importance of genetic testing for patients with various different types of cancers, including breast, gastric, prostate and lung, to better inform management and treatment decisions..

旧金山，2024年5月23日/PRNewswire/--领先的医学遗传学公司Invitae（OTC:NVTAQ）今天宣布将在2024年5月31日至6月4日在芝加哥举行的2024年美国临床肿瘤学会（ASCO）年会上提交八项研究。所提供的临床数据证明了基因检测对患有各种不同类型癌症（包括乳腺癌，胃癌，前列腺癌和肺癌）的患者的重要性，以更好地为管理和治疗决策提供信息。。

Genetic testing guidelines need to be inclusive of more cancer types, with new data finding gastric, lung and prostate cancer patients with inherited genes linked to increased cancer risk

基因检测指南需要包括更多的癌症类型，新数据发现胃癌、肺癌和前列腺癌患者的遗传基因与癌症风险增加有关

Gastric cancer is the fourth leading cause of cancer-related deaths worldwide, and the role of pathogenic (disease causing) variants in cancer predisposition genes is not well understood for this disease. One study looked at genetic testing results in 3,706 gastric cancer patients – the largest study of its kind – to better understand the prevalence of disease causing variants in cancer associated genes.

胃癌是全球癌症相关死亡的第四大主要原因，对于这种疾病，致病（致病）变异在癌症易感基因中的作用尚不清楚。一项研究对3706名胃癌患者的基因检测结果进行了研究，这是同类研究中规模最大的一项研究，目的是更好地了解癌症相关基因中致病变异的普遍性。

The results found the percentage of patients with disease causing variants to be 13.4%, about 1 in 8 patients. This shows the value of genetic testing in all gastric cancer patients, as the prevalence of pathogenic variants is similar to other cancer types for which guidelines recommend universal genetic testing..

结果发现，具有致病变异的患者百分比为13.4%，约为8名患者中的1名。这表明了基因检测在所有胃癌患者中的价值，因为致病变异的患病率与指南建议进行通用基因检测的其他癌症类型相似。。

'Current guidelines haven't met the needs for patients across cancer types, gastric cancer included,' said Dr. Ophir Gilad, University of Chicago and a co-author of this study. 'The prevalence of actionable gene variants found in this study of gastric cancer patients is on par with other cancer types for which guidelines recommend universal genetic testing.

芝加哥大学（University of Chicago）的奥菲尔·吉拉德（OphirGilad）博士是这项研究的合著者，他说：“目前的指南并没有满足包括胃癌在内的各种癌症患者的需求。”在这项胃癌患者研究中发现的可行基因变异的患病率与指南建议进行通用基因检测的其他癌症类型相当。

We're increasingly seeing evidence for germline genetic testing to help guide treatment plans and familial testing for various cancer types.'.

我们越来越多地看到种系基因检测的证据，以帮助指导各种癌症类型的治疗计划和家族检测。”。

Additionally, in a study of 14,317 patients with lung cancer, 12.6% had pathogenic germline variants -- regardless of smoking history. The study results suggest these inherited genes are not only independently associated with lung cancer, but also additive to smoking risk for lung cancer. These data reinforce prior studies supporting consideration of germline genetic testing for all patients with lung cancer, independent of age or reported smoking history..

此外，在一项对14317名肺癌患者的研究中，无论吸烟史如何，12.6%的患者都有致病性种系变异。研究结果表明，这些遗传基因不仅与肺癌独立相关，而且还增加了吸烟患肺癌的风险。这些数据加强了先前的研究，支持考虑对所有肺癌患者进行种系基因检测，而与年龄或报告的吸烟史无关。。

Genetic testing is similarly underutilized for prostate cancer. In a large study of 15,000 prostate cancer patients that received genetic testing, results showed that of the patients with genetic variants that increase risk of prostate cancer, 3 in 4 patients had no reported family history of prostate cancer and more than 1 in 3 patients had no reported family history of any cancer.

基因检测在前列腺癌中同样未得到充分利用。在一项针对15000名接受基因检测的前列腺癌患者的大型研究中，结果显示，在具有增加前列腺癌风险的遗传变异的患者中，四分之三的患者没有前列腺癌家族史的报道，超过三分之一的患者没有任何癌症家族史的报道。

The findings underscore the importance of genetic testing for all prostate cancer patients, regardless of age, stage or family history..

这些发现强调了对所有前列腺癌患者进行基因检测的重要性，无论其年龄、分期或家族史如何。。

Breast cancer data in Rwanda demonstrates need for more genetic testing in underrepresented populations

卢旺达的乳腺癌数据表明，需要在代表性不足的人群中进行更多的基因检测

Despite the observation that cancers are often diagnosed at young ages and take an aggressive course in Sub-Saharan Africa (SSA), genetic data that could inform treatment are limited for this population group.

尽管观察到癌症通常在年轻时就被诊断出来，并且在撒哈拉以南非洲（SSA）的病程很长，但可以为治疗提供信息的遗传数据对于这一人群来说是有限的。

In a recent study, patients undergoing cancer treatment in hospitals in Rwanda for female breast, male breast and prostate cancer underwent multigene panel testing (Invitae), and the results found a large proportion of the patients had inherited pathogenic variants that could help inform their treatment (18.3% of female breast cancer, 16.7% of male breast cancer, and 4.3% of prostate cancer patients).

在最近的一项研究中，在卢旺达医院接受女性乳腺癌，男性乳腺癌和前列腺癌癌症治疗的患者接受了多基因面板检测（Invitae），结果发现大部分患者遗传了可能有助于治疗的致病变异（18.3%的女性乳腺癌，16.7%的男性乳腺癌和4.3%的前列腺癌患者）。

The findings suggest that genetic testing should be more routinely implemented into cancer care and prevention strategies in this population..

研究结果表明，基因检测应该更常规地应用于这一人群的癌症护理和预防策略中。。

Underrepresented race, ethnicity, and ancestry (REA) groups face these challenges across geographies. In another recent study being presented at ASCO that included more than one million people over an eight-year period who underwent genetic testing for hereditary cancer syndromes, it was found that underrepresented REA groups are disproportionately impacted by variants of uncertain significance (VUS) in genetic testing, which are uncertain results that are not clinically actionable.

代表性不足的种族，种族和血统（REA）群体在不同地区面临这些挑战。在ASCO最近进行的另一项研究中，包括八年来接受遗传性癌症综合征基因检测的100多万人，发现代表性不足的REA群体受到基因检测中不确定意义（VUS）变异的不成比例的影响，这些变异是不确定的结果，在临床上不可行。

With more representation of these groups in clinical studies, there will be more data that could uncover life-saving discoveries. Clinical evidence was the most significant source of information leading to VUS resolution, underscoring the importance of the clinician-lab partnership and communication..

随着这些群体在临床研究中的代表性增加，将有更多的数据可以揭示挽救生命的发现。临床证据是导致VUS解决的最重要信息来源，强调了临床医生-实验室合作与沟通的重要性。。

'Germline genetic testing should be the standard of cancer care across many types of cancers. In underrepresented populations, this is especially crucial as more information needs to be collected to better inform care and improve population health overall,' said Dr. Michael Korn, chief medical officer at Invitae.

“生殖细胞基因检测应该是多种癌症的癌症护理标准。Invitae首席医疗官迈克尔·科恩（MichaelKorn）博士说，在代表性不足的人群中，这一点尤其重要，因为需要收集更多信息，以便更好地为护理提供信息，并改善总体人口健康状况。

'Each year, ASCO presents us with an opportunity to share compelling research to help propel cancer treatment forward, and we're proud of the clinical insights our tests are able to provide across cancer types.'.

“每年，ASCO都会为我们提供一个分享令人信服的研究的机会，以帮助推动癌症治疗的发展，我们为我们的测试能够提供跨癌症类型的临床见解感到骄傲。”。

Study offers reassurance that variants of uncertain significance in genetic testing results among patients with breast cancer do not lead to overuse of treatment or surveillance interventions, such as mastectomies

这项研究保证，乳腺癌患者基因检测结果中不确定意义的变异不会导致过度使用治疗或监测干预措施，例如乳房切除术

It's common for patients with breast cancer undergoing germline genetic testing to have uncertain results, but it's previously been unclear if these results impact clinical management. However, a recent study being presented at ASCO presents new evidence indicating that variants of uncertain significance (VUS) identified through germline genetic testing do not result in guideline-discordant management in real-world settings.

接受种系基因检测的乳腺癌患者通常会有不确定的结果，但以前尚不清楚这些结果是否会影响临床管理。然而，ASCO最近进行的一项研究提供了新的证据，表明通过种系基因检测鉴定出的不确定性显着性（VUS）变异不会导致现实环境中指南不一致的管理。

Specifically, patients with breast cancer and VUS results demonstrated similar rates of treatment, prevention and surveillance interventions compared to those with negative results. This offers reassurance that VUS results do not lead to overuse of mastectomies or other interventions for patients with breast cancer..

具体而言，乳腺癌和VUS结果患者的治疗，预防和监测干预率与阴性结果患者相似。这可以确保VUS的结果不会导致乳腺癌患者过度使用乳房切除术或其他干预措施。。

2024 ASCO presentations and posters:

2024年ASCO演讲和海报：

Oral presentation/Abstract 10513: Titled: Tracking uncertainty in germline genetic testing for hereditary cancer syndromes: Sources, attributes and resolution of variants of uncertain significance in over 1 million individuals. Presenter: Brian Reys, MS, CGC

口头陈述/摘要10513：标题：跟踪遗传性癌症综合征种系基因检测中的不确定性：100多万个体中不确定意义变异的来源，属性和解决方案。主持人：Brian Reys，女士，CGC

Oral presentation/Abstract 10512: Titled: Real-world cancer care utilization among patients with breast cancer with germline variants of uncertain significance. Presenter: Allison W. Kurian, MD, MS, MSc, FASCO

口头陈述/摘要10512：标题：具有不确定意义的种系变异的乳腺癌患者的现实世界癌症护理利用。主持人：Allison W.Kurian，医学博士，硕士，FASCO

Poster 374/Abstract 6058: Titled: The combination of patient-specific tumor and HPV sequencing to enable high-sensitivity detection of ctDNA in patients with HPV-associated oropharyngeal carcinoma. Presenter: Bill Diplas, MD, PhD

海报374/摘要6058：标题：患者特异性肿瘤和HPV测序的组合，以实现HPV相关口咽癌患者ctDNA的高灵敏度检测。主持人：医学博士比尔·迪普拉斯

Poster 106/Abstract 10579: Titled: Uptake of risk-reduction, surveillance and therapeutic interventions among breast cancer patients with pathogenic germline variants. Presenter: Allison W. Kurian, MD, MS, MSc, FASCO

海报106/摘要10579：标题：在具有致病性种系变异的乳腺癌患者中采取风险降低，监测和治疗干预措施。主持人：Allison W.Kurian，医学博士，硕士，FASCO

Poster 508/Abstract 5102: Titled: Germline gene-specific associations in a large prostate cancer cohort. Presenter: Hiba Khan, MD, MPH

海报508/摘要5102：标题：大型前列腺癌队列中的种系基因特异性关联。主持人：医学博士Hiba Khan，公共卫生硕士

Poster 105/Abstract 10578: Titled: Prevalence of pathogenic genetic variants in patients with gastric cancer ascertained through multi-gene panel testing. Presenter: Ophir Gilad, MD

海报105/摘要10578：标题：通过多基因组检测确定的胃癌患者致病性遗传变异的患病率。主持人：医学博士Ophir Gilad

Poster 118/Abstract 10591: Titled: Germline sequence variation in Rwandan patients with breast and prostate cancer. Presenter: Achille Manirakiza, MD, MMed

海报118/摘要10591：标题：卢旺达乳腺癌和前列腺癌患者的种系序列变异。主讲人：医学博士Achille Manirakiza，MMed

Poster 302/Abstract 8040: Titled: Smoking and pathogenic germline variants in patients with lung cancer. Presenter: Ed Esplin, FACMG, FACP, MD, PhD

海报302/摘要8040：标题：肺癌患者的吸烟和致病种系变异。主持人：Ed Esplin，FACMG，FACP，MD，PhD

About Invitae

关于Invitae

Invitae (OTC: NVTAQ) is a leading medical genetics company trusted by millions of patients and their providers to deliver timely genetic information using digital technology. We aim to provide accurate and actionable answers to strengthen medical decision-making for individuals and their families. Invitae's genetics experts apply a rigorous approach to data and research, serving as the foundation of their mission to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people..

Invitae（OTC:NVTAQ）是一家领先的医学遗传学公司，受到数百万患者及其提供者的信任，可以使用数字技术及时提供遗传信息。我们的目标是提供准确可行的答案，以加强个人及其家人的医疗决策。Invitae的遗传学专家对数据和研究采用严格的方法，这是他们将全面的遗传信息纳入主流医学以改善数十亿人医疗保健的使命的基础。。

To learn more, visit invitae.com and follow for updates on LinkedIn, X, Instagram, and Facebook @Invitae.

要了解更多信息，请访问invitae.com并关注LinkedIn、X、Instagram和Facebook@invitae的更新。

Safe Harbor Statement

安全港声明

This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to the company's beliefs regarding its new research; the company's belief that its new research demonstrates the importance of genetic testing for many cancers not currently covered by clinical guidelines; the company's belief that its new research demonstrates the need for more research in underrepresented populations; and the company's belief that its research helps move cancer treatment forward..

本新闻稿包含1995年《私人证券诉讼改革法案》所指的前瞻性声明，包括与公司对其新研究的信念有关的声明；该公司相信，其新研究证明了基因检测对临床指南目前未涵盖的许多癌症的重要性；该公司相信其新研究表明需要对代表性不足的人群进行更多研究；该公司相信其研究有助于推进癌症治疗。。

Forward-looking statements are subject to risks and uncertainties that could cause actual results to differ materially, and reported results should not be considered as an indication of future performance. These risks and uncertainties include, but are not limited to: the applicability of clinical results to actual outcomes; the company's ability to use rapidly changing genetic data to interpret test results accurately and consistently; risks and uncertainties regarding the company's ability to successfully consummate and complete a plan under chapter 11 or any strategic or financial alternative as well as the company's ability to implement and realize any anticipated benefits associated with its sale of assets to Labcorp and the any alternative that may be pursued, including the asset sales and wind down of operations; the company's public securities' potential liquidity and trading; and any impact resulting from the delisting of the company's common stock from the New York Stock Exchange and trading instead on the OTC Pink Marketplace; and the other risks set forth in the company's filings with the Securities and Exchange Commission, including the risks set forth in the company's Quarterly Report on Form 10-Q for t.

前瞻性陈述受到可能导致实际结果产生重大差异的风险和不确定性的影响，报告的结果不应被视为未来业绩的指标。这些风险和不确定性包括但不限于：临床结果对实际结果的适用性；该公司能够使用快速变化的遗传数据准确一致地解释测试结果；公司成功完成和完成第11章规定的计划或任何战略或财务替代方案的能力，以及公司实施和实现与向Labcorp出售资产相关的任何预期利益的能力以及可能采取的任何替代方案（包括资产出售和运营结束）的风险和不确定性；公司公共证券的潜在流动性和交易；以及公司普通股从纽约证券交易所退市并在场外粉红色市场交易产生的任何影响；以及公司向证券交易委员会提交的文件中规定的其他风险，包括公司季度报告中针对t的表格10-Q中规定的风险。

Invitae PR contact:

Invitae公关联系人：

Renee Kelley

蕾妮·凯利

pr@invitae.com

pr@invitae.com

View original content to download multimedia:https://www.prnewswire.com/news-releases/new-research-demonstrates-the-importance-of-genetic-testing-for-many-cancers-not-currently-covered-by-clinical-guidelines-302154407.html

查看原始内容以下载多媒体：https://www.prnewswire.com/news-releases/new-research-demonstrates-the-importance-of-genetic-testing-for-many-cancers-not-currently-covered-by-clinical-guidelines-302154407.html

SOURCE Invitae Corporation

SOURCE Invitae公司