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For children with developmental delay, intellectual disability, autism spectrum disorder, or congenital anomalies, WES and WGS may help shorten the diagnostic journey and provide clearer direction for care.

โรคมะเร็งที่ถ่ายทอดทางพันธุกรรม (Hereditary Cancer) เกิดจากการกลายพันธุ์ของยีนมะเร็งที่ถ่ายทอดผ่านครอบครัว ซึ่งเพิ่มความเสี่ยงในการเกิดมะเร็งบางชนิดอย่างมีนัยสำคัญ แม้ว่าเราไม่สามารถป้องกันมะเร็งพันธุกรรมได้อย่างสมบูรณ์ แต่การเข้าใจความเสี่ยงทางพันธุกรรมของตนเอง สามารถช่วยวางแผนเชิงรุก เพื่อลดโอกาสการเกิดมะเร็ง หรือช่วยให้ค้นพบโรคมะเร็งได้ตั้งแต่ระยะเริ่มต้น เพื่อเริ่มต้นการรักษาได้ในระยะแรกของมะเร็ง การผสมผสานระหว่าง การตรวจทางพันธุกรรม (Genetic Testing) การตรวจคัดกรอง (Screening) การปรับเปลี่ยนพฤติกรรม และนวัตกรรมทางการแพทย์ สามารถช่วยให้ผู้ที่มีประวัติครอบครัวเป็นมะเร็ง บริหารจัดการความเสี่ยงได้อย่างมีประสิทธิภาพ บทความนี้จะอธิบายแนวทางการลดความเสี่ยงของโรคมะเร็งพันธุกรรม ทั้งมาตรการป้องกัน การปรับเปลี่ยนพฤติกรรม และการแพทย์ทางเลือก

When diabetes appears across generations and standard treatment does not achieve expected control, genomic testing may help uncover an underlying hereditary cause.

When routine tests still leave questions unanswered, whole genome sequencing may provide broader genomic insights for rare and hereditary disease diagnosis.

Explore the 2025–2026 landscape of precision medicine in biliary tract cancer, from molecular profiling and RNA fusion testing to biomarker-driven treatment strategies.

The therapeutic landscape of HER2-positive breast cancer continues to evolve—from positive to low and now ultra-low expression categories. Trastuzumab deruxtecan has redefined HER2-targeted therapy, extending clinical benefit to broader patient populations. This evolution, however, underscores the need for greater precision and consistency in HER2 assessment. Mass spectrometry-based clinical proteomics provides an advanced, quantitative, and reproducible solution that complements conventional IHC, enabling more accurate patient stratification and guiding the next generation of precision oncology.

Prostate cancer is one of the most common cancers affecting men worldwide. In Taiwan, it is the third leading cancer among men. For many years, treatment choices were mostly guided by general factors like PSA levels, Gleason score, and the stage of the disease. While these remain important, they don’t always tell the full story of how each man’s cancer behaves.

Recent advances in the treatment of metastatic colorectal cancer (mCRC) underscore the growing importance of personalized therapy. Rather than relying on a one-size-fits-all approach, clinicians are increasingly turning to molecular profiling to tailor treatment decisions—maximizing clinical benefit while minimizing unnecessary toxicity.

Biliary tract cancers (BTCs), which include cholangiocarcinoma and gallbladder cancer, are rare but aggressive malignancies associated with a poor prognosis1. BTC remains one of the most challenging malignancies due to its complex biological nature and frequent late-stage diagnosis. However, the rise of precision medicine and Next-Generation Sequencing (NGS) testing offers renewed hope. By tailoring treatment to the unique molecular profile of each patient’s tumor, clinicians can select targeted therapies with potentially improved outcomes.

The exploratory molecular residual disease (MRD) analysis of the phase 3 ADAURA study was reported at the 2024 ASCO Annual Meeting. The MRD analysis identified molecular recurrence before a disease-free survival (DFS) event in early-stage resectable EGFR-mutated non-small cell lung cancer (NSCLC).

The phase 2 TBCRC 048 trial valuated the efficacy of olaparib in patients with metastatic breast cancer and mutations in homologous recombination pathway genes. Data from expansion cohorts presented at ASCO 2024 focused on patients with stage IV breast cancer who had germline PALB2 or somatic BRCA mutations.

Hereditary cancer syndromes are genetic disorders that significantly increase an individual's risk of developing certain types of cancer. Unlike sporadic cancers, which occur due to random genetic mutations over a person's lifetime, hereditary cancers result from inherited gene mutations that are passed down through parents. Understanding these syndromes is crucial for early detection, risk reduction, and personalized health care planning. In this blog, we’ll take a closer look at some of the most common hereditary cancer syndromes, how they affect cancer risk, and what steps individuals can take if they have a family history of these conditions.

The study focuses on analyzing tumor fraction and copy number burden (CNB) in urinary tumor DNA (utDNA) as a non-invasive biomarker for detecting minimal residual disease (MRD) and monitoring genomic alterations in cancer patients. This study highlights the significance of utDNA in non-invasive cancer diagnostics.

The primary results of the phase 3 LAURA study were reported at the 2024 ASCO Annual Meeting. Consolidation osimertinib following definitive chemoradiotherapy demonstrated significant clinical benefit in patients with unresected stage III EGFR-mutated non-small cell lung cancer (NSCLC).

US FDA updates, Taiwan FDA updates, and Taiwan NHI updates

At the American Society of Clinical Oncology (ASCO) 2024 annual meeting, several promising biomarker-related treatment data were released.

Precision medicine has become crucial in cancer treatment, especially in targeted and immunotherapy. The advances in cancer genomic testing play a significant role in clinical research, providing a scientific foundation and direction for these clinical trials. This article will explore the concept and progress of precision medicine and its role in cancer treatments.

T-DXd showed a statistically significant and clinically meaningful PFS benefit vs TPC (CT) in HER2-low mBC. HER2-ultralow results were consistent with HER2-low. Safety was in line with known profiles. DB-06 establishes T-DXd as a standard of care following ≥1 endocrine-based therapy for pts with HER2-low and -ultralow, HR+ mBC.

In the phase 2 study of sitravatinib combination with tislelizumab, DCR was 69.2% in ITT population after median follow-up of 10.5 months. Patients with homologous recombination repair deficiency (HRD) had better survival outcome comparing with HRP. This result was presented in 2024 ASCO annual meeting.

The 2024 ASCO Annual Meeting spotlighted several groundbreaking developments in managing non-small cell lung cancer (NSCLC), particularly focusing on targeted therapies for specific genomic alterations that drive cancer progression.

Bladder cancer continues to be a significant challenge in oncology, despite advancements in diagnosis and treatment methods. Precision medicine is changing the game by shifting from traditional broad-spectrum approaches to more personalized strategies. This article explores how oncologists can use the unique genetic profile of each tumor to develop highly effective and less toxic treatment plans. Dive into the promising solutions and both established and emerging therapeutic avenues in the field of precision medicine for bladder cancer.

The FDA has granted accelerated approval to trastuzumab deruxtecan (Enhertu) for treating adult patients with unresectable or metastatic HER2-positive solid tumors, highlighting HER2-positive as a tumor-agnostic biomarker. The approval is based on successful results from the DESTINY-PanTumor02, DESTINY-Lung01, and DESTINY-CRC02 clinical trials.

RAMP-201 was presented on 2024 Society of gynecologic oncology annual meeting on women’s cancer, a RAF/MEK clamp avutometinib combination therapy with a FAK inhibitor defactinib demonstrated a promising clinical outcome on low-grade serous ovarian carcinoma (LGSOC) which is commonly driven by RAS/MAPK pathway

Bladder cancer remains a prevalent challenge, but a beacon of hope shines through the advancements in precision medicine. This revolutionary approach moves beyond a "one-size-fits-all" strategy by analyzing your tumor's unique genetic makeup to tailor treatment plans. Let's delve into the contemporary landscape of precision medicine in bladder cancer:

Head and neck cancer (HNC) remains a significant health concern, but the landscape is shifting thanks to precision medicine. This revolutionary approach moves beyond a "one-size-fits-all" strategy by analyzing the unique genetic makeup of your tumor to tailor treatment plans. Here's how precision medicine is transforming HNC treatment during Head and Neck Cancer Awareness Month:

Head and neck cancer (HNC) can encompass various cancers affecting the throat, mouth, voice box, and surrounding areas. While it may sound serious, it's important to remember that significant progress is being made in treatment, especially with the rise of personalized medicine. Here's a breakdown of HNC and how personalized medicine is changing the game

Cracking the HRD Code: Why Genomic Test Companies are Key to Unlocking Precision Cancer Care

Colorectal cancer (CRC) remains a significant health concern, but advancements in precision medicine offer a ray of hope. The treatment approach moves beyond a "one-size-fits-all" strategy by analyzing your tumor's unique genetic makeup to tailor treatment plans. Here's what you should know about colorectal cancer and how genomic testing empowers precision medicine:

Abstract: Tinengotinib, a next-generation FGFR1-3 inhibitor, has exhibited promising efficacy in cholangiocarcinoma patients with FGFR2 fusion who have undergone prior treatment with other FGFR inhibitors, as well as in patients with other FGFR alterations (non-fusion). These recent findings were presented at the 2024 ASCO Gastrointestinal Cancers Symposium.

Abstract: The NRG-GI005 study is the largest study to date to evaluate the role of ctDNA in guiding colon cancer treatment. The results suggest that the clinical application of ctDNA testing after surgery in low-risk stage IIA colon cancer remains unclear.

Abstract: A poster presented at the 2024 Genitourinary Cancers Symposium highlighted the underutilization of homologous recombination repair (HRR) gene testing for potential targeted therapy with PARP inhibitors in real-world studies of mCRPC patients in the US.

Imagine a powerful tool capable of identifying cancer patients who might benefit from specific, targeted treatments. This tool, the Homologous Recombination Deficiency (HRD) biomarker, holds immense promise in personalized cancer care. However, a major hurdle stands in the way – the lack of standardized methods for measuring and reporting HRD. This inconsistency leads to confusion and hinders the full potential of this valuable biomarker.

Ovarian cancer, while less common than other cancers, remains a significant threat to women's health. But amidst the challenges, a new beacon of hope emerges: Homologous Recombination Deficiency (HRD). This complex biological marker is transforming the way we understand and treat ovarian cancer, offering personalized approaches and improved outcomes. So, let's delve into the world of ovarian cancer and unravel the fascinating connection with HRD

The discovery of Homologous Recombination Deficiency (HRD) has significantly impacted the landscape of ovarian cancer treatment. This intricate biological marker is no longer just genomic information but a key player in unlocking personalized treatment strategies and offering new hope for patients. Let's explore the diverse applications of HRD in ovarian cancer.

Deciphering the Code: Demystifying HRD as a Key Biomarker in Ovarian Cancer.

การตรวจวิเคราะห์รหัสพันธุกรรมของเซลล์มะเร็ง เป็นการตรวจหาการกลายพันธุ์ของยีนในเซลล์มะเร็ง เพื่อช่วยให้แพทย์สามารถเลือกใช้ยาที่เหมาะสม เช่น ยามุ่งเป้า (Targeted Therapy) และภูมิคุ้มกันบำบัด (Immunotherapy) ในการรักษาผู้ป่วยมะเร็งได้ถูกต้อง ซึ่งการตรวจวิเคราะห์ยีนกลายพันธุ์ของเซลล์มะเร็งนี้เป็นการรักษาผู้ป่วยมะเร็งภายใต้แนวคิดการแพทย์แบบแม่นยำ (Precision Medicine) หรือการรักษาส่วนบุคคล (Personalized Medicine)

The ATTLAS phase III trials demonstrated that quadruple therapy, consisting of chemoimmunotherapy combined with an antiangiogenic agent, can extend progression-free survival (PFS) in patients with EGFR- or ALK-mutated non-small cell lung cancer (NSCLC) progressing on TKIs.

Based on results from a phase 3, randomized PAPILLON trial presented at the 2023 ESMO Congress, amivantamab plus chemotherapy is recommended for treatment-naïve, locally advanced, or metastatic NSCLC patients diagnosed with EGFR exon 20 insertion (EGFR ex20ins) mutation. Amivantamab-Chemotherapy demonstrated significant clinical benefits over standard-of-care, and the latest NCCN guidelines recommend this regimen for frontline EGFR ex20ins.

Abstract: Acquired ESR1 co-alterations, such as RB1, FGFR1, CCND1, ERBB2, TP53, and CCNE1, often occurred in HR+/HER2- breast cancer after endocrine therapy (ET). According to an analysis of the phase 2 ELAINE 2 study, these ESR1 co-alterations didn’t impact the combination of lasofoxifene and abemaciclib efficacy in ESR1+ metastatic breast cancer (mBC). These results were published in 2023 San Antonio Breast Cancer Symposium.

การแพทย์แม่นยำ (Precision Medicine) คือการรักษามะเร็งแบบเฉพาะบุคคล ด้วยการตรวจหาการกลายพันธุ์ของยีนในเซลล์มะเร็ง (Cancer Genomic Testing) เพื่อเลือกแนวทางการรักษาที่เหมาะสมที่สุดสำหรับผู้ป่วยแต่ละราย

As reported in the 2023 ESMO annual conference, Selpercatinib demonstrated superior clinical benefit compared to cabozantinib or vandetanib in a phase 3 LIBRETTO-531 study for RET-mutant medullary thyroid cancer (MTC).

destiny-pantumor02-the-adc-trastuzumab-deruxtecan-t-dxd-showed-activity-in-her2-expressing-solid-tumors

The MOUNTAINEER study, as presented at the 2023 ASCO and ESMO annual meetings, provides an update on the detection of HER2 amplification in mCRC patients using blood NGS and tissue assays. Patients in whom HER2 amplification is not initially detected by blood NGS may be identified through tissue-based assays, suggesting a potential benefit from HER2-directed therapy. In the study, HER2 amplification detected by tissue assays demonstrated a high percentage agreement and showed a clinical benefit trend in patients with RAS wild-type HER2+ unresectable or metastatic colorectal cancer (mCRC) treated with tucatinib in combination with trastuzumab. Exploratory biomarker analyses revealed that many patients exhibited multiple heterogeneous resistance alterations, including PIK3CA, EGFR, and MET alterations in disease progression.

การเรียนรู้ที่จะเผชิญหน้ากับความตายสอนวิธีใช้ชีวิตอย่างแท้จริง

ขณะต่อสู้กับมะเร็งรังไข่เป็นเวลา 18 ปี นางสาวช้างได้รับการรักษาด้วยเคมีบำบัดและการผ่าตัดหลายรอบ

โรคมะเร็งได้เปลี่ยนมุมมองของฉันในชีวิตอย่างสิ้นเชิง

การต่อสู้กับโรคมะเร็งประสบความสำเร็จเป็นไปได้ด้วยการสนับสนุนและความรักจากครอบครัว

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