Tag: BRCA

Two Million Cancers; Casgevy OK’d for Thalassemia; Rectal Exams and Prostate Cancer

While cancer mortality continues to decline, the number of new cases is projected to top 2 million in 2024, according to the American Cancer Society’s annual report on cancer statistics. The FDA approved exagamglogene autotemcel (Casgevy) for transfusion-dependent beta thalassemia in patients 12 years and older, maker Vertex announced. This…

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Can sf3b1 mutation be detected by rflp method?

Can sf3b1 mutation be detected by ARMS-PCR method?5 answersSF3B1 mutations can be detected using the ARMS-ddPCR method, which combines the amplification refractory mutation system (ARMS) with droplet digital polymerase chain reaction (ddPCR). This method allows for the detection of gene mutations at specific sites, including SF3B1 mutations, with high sensitivity…

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Genetic Mechanisms Driving Predisposition to Childhood Kidney Cancer Uncovered

Wilms tumor, also known as nephroblastoma, is a rare kidney cancer that mainly affects children. The average age of diagnosis of Wilms tumor in children depends upon whether one or both kidneys are affected. If one kidney is affected, unilateral Wilms tumor, the age at diagnosis usually is 42–47 months….

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Precision Medicine: A New Era in Cancer Therapy

Precision medicine can offer improved clinical outcomes by assessing the unique characteristics of tumors, such as their likelihood of developing resistance to chemotherapy. Stay up to date on the latest science with Brush Up Summaries.  Precision Medicine in Cancer Precision medicine for cancer treatment involves tailoring treatments to an individual…

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Expert Guidelines Detail Optimal Sequencing of Emerging Therapies for Metastatic Castration-Resistant Prostate Cancer, Journal Club

Read the Full Video Transcript Rashid Sayyid: Hello everyone and thank you for joining us in this UroToday recording. I’m Rashid Sayyid, the Urologic Oncology Fellow at the University of Toronto, and along with Zach Klaassen, Associate Professor Program Director at Wellstar MCG Health, we’ll be discussing the recently amended…

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Whole-genome sequencing reveals the molecular implications of the stepwise progression of lung adenocarcinoma

Whole-genome sequencing (WGS) analysis of early and advanced adenocarcinomas Whole-genome short read and long read sequencing datasets of 76 lung cancer specimens were analyzed. The datasets included newly generated data for 48 early small-sized lung adenocarcinoma cases (collectively called “Early-Ad” hereafter). These cases included 26 AIS (9 and 17 cases…

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Carrier status of an actionable gene is associated with reduced life span in large Icelandic study

1. In this cross-sectional study, having carrier status of actionable genes identified by the American College of Medical Genetics and Genomics (ACMG) was associated with reduced life span compared to non-carrier status.  2. Having carrier status for an actionable cancer gene was associated with a shorter life span by an…

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Human RAD52 stimulates the RAD51-mediated homology search

Introduction Homologous recombination (HR) is an evolutionarily conserved process that plays a pivotal role in genome stability, diversity, and plasticity. HR is indeed a key repair pathway able to faithfully repair DNA damages including double-strand breaks (DSBs) and DNA gaps by copying the error-free information from the template DNA normally…

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Deep learning-enabled breast cancer endocrine response determination from H&E staining based on ESR1 signaling activity

Burstein, H. J. Systemic therapy for estrogen receptor-positive, HER2-negative breast cancer. N. Engl. J. Med. 383, 2557–2570. doi.org/10.1056/NEJMra1307118 (2020). Article  CAS  PubMed  Google Scholar  Jeselsohn, R. M. The evolving use of SERDs in estrogen receptor-positive, HER2-negative metastatic breast cancer. Clin. Adv. Hematol. Oncol. 19, 428–431 (2021). PubMed  Google Scholar  McAndrew,…

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Data Support Wider Use of Germline Genetic Testing in Lung Cancer

Results of a new study support wider use of germline genetic testing in patients with lung cancer, according to researchers. The study showed that about 1 in 7 lung cancer patients who underwent genetic testing had a pathogenic germline variant. This frequency is higher than previously reported and suggests it…

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Can breast milk analysis help diagnose early breast cancer?

How DNA sequencing of breast milk can replace tissue imaging for early diagnosis of breast cancer in pregnant and lactating women Markella Loi | 12/05/2023 | 4 min read | News Approximately 1 in 3,000 women will be diagnosed with breast cancer during pregnancy (PrBC) or postpartum period (PPBC), making…

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Integrating extracellular vesicle and circulating cell-free DNA analysis using a single plasma aliquot improves the detection of HER2 positivity in breast cancer patients

doi: 10.1002/jex2.108. Epub 2023 Sep 25. Vera Mugoni  1 , Yari Ciani  1 , Orsetta Quaini  1 , Simone Tomasini  1 , Michela Notarangelo  1 , Federico Vannuccini  1 , Alessia Marinelli  1 , Elena Leonardi  2 , Stefano Pontalti  3 , Angela Martinelli  1 , Daniele Rossetto  1 , Isabella Pesce  1 , Sheref S Mansy  1 , Mattia Barbareschi  2 , Antonella…

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2023 Year in Review: Business Developments

By Alex Philippidis At the start of 2023, the website for Pfizer CenterOne posted an article titled, “What Trends Will Shape the Pharma and Biotech Industries in 2023?” It quoted Rick L. Knight, the company’s global head of strategic account management, as follows: “We can continue to expect to see…

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Understanding gene level copy number data from TCGAbiolinks

Hi all. Thanks in advance for helping me out. I’m trying to analyze copy number data from TCGA (using TCGAbiolinks), and trying to define genes that are either amplified or deleted. To download gene level copy number alteration, I used the code below: query <- GDCquery(project=”TCGA-BRCA”, data.category = ‘Copy Number…

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Pharmaceuticals | Free Full-Text | At the Crossroads of the cGAS-cGAMP-STING Pathway and the DNA Damage Response: Implications for Cancer Progression and Treatment

Received: 30 September 2023 / Revised: 21 November 2023 / Accepted: 21 November 2023 / Published: 1 December 2023 Round 1 Reviewer 1 Report Comments and Suggestions for Authors The review article written by Korneenko et al., is well structured and of great importance to the readers. A minor comment…

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Serial Next Generation Sequencing and the Role of PARP Inhibitor Therapy in 2024

(UroToday.com) The 2023 Society of Urologic Oncology (SUO) annual meeting held in Washington, D.C. between November 28th and December 1st, 2023, was host to a prostate cancer course. Dr. Alan Bryce provided an overview of the use and application of serial next generation sequencing (NGS) in the castrate-resistant prostate cancer disease…

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Exploring the promising potential of induced pluripotent stem cells in cancer research and therapy | Molecular Cancer

Rowe RG, Daley GQ. Induced pluripotent stem cells in disease modelling and drug discovery. Nat Rev Genet. 2019;20:377–88. Article  CAS  PubMed  PubMed Central  Google Scholar  Li L, Papadopoulos V. Advances in stem cell research for the treatment of primary hypogonadism. Nat Rev Urol. 2021;18:487–507. Article  CAS  PubMed  Google Scholar  Lawrence…

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Rhumbline Advisers Sells 980 Shares of Myriad Genetics, Inc. (NASDAQ:MYGN)

Rhumbline Advisers decreased its stake in Myriad Genetics, Inc. (NASDAQ:MYGN – Free Report) by 0.4% during the 2nd quarter, according to the company in its most recent Form 13F filing with the Securities and Exchange Commission. The fund owned 267,994 shares of the company’s stock after selling 980 shares during…

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Pan-Cancer Analysis and Validation of Opioid-Related Receptors Reveals

Introduction The potential role of opioids used in oncology patients has been controversial. Epidemiological and retrospective studies have demonstrated that lower opioid doses and regional anesthesia (epidural, intrathecal, or paravertebral) for breast,1 colon,2 or melanoma3 are linked to lower rates of cancer recurrence, while general anesthesia with high opioid doses…

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Genetic predisposition to early breast cancer

image:    Figure 2: The spectrum of pathogenic variants in the early-onset breast cancer cohort. view more  Credit: 2023 Zhunussova et al. “Our study may reveal previously uncharacterized population-specific variants that may increase the risk of BC in the Kazakh population.” BUFFALO, NY- November 22, 2023 – A new research…

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Analysis of nucleoporin 107 overexpression

Introduction Lung cancer is one of the most common types of cancer worldwide and the leading cause of cancer death.1 The main category of lung cancer is non-small cell lung cancer, accounting for about 85%, and lung adenocarcinoma, as a kind of non-small cell lung cancer, is the most frequently…

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Cellular senescence triggers intracellular acidification and lysosomal pH alkalinized via ATP6AP2 attenuation in breast cancer cells

Doxo and Abe promote cellular senescence accompanied by an altered profile of senescence-related genes in breast cancer cells Doxo and Abe were used to treat breast cancer cells (human triple-negative breast cancer cell line MDA-MB-231 and human luminal A subtype breast cancer cell line MCF-7) for 24 h, without a robust…

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Are We Ready for Systematic Newborn Genome Sequencing?

PARIS — Will the traditional newborn screening program developed 60 years ago by Dr Robert Guthrie soon be superseded by genome screening at birth? Routine sampling and analysis of newborn DNA would allow us to screen for many hundreds of childhood genetic diseases. This is the claim made by David…

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how to get ER, PR and HER2 data from TCGA BRCA

how to get ER, PR and HER2 data from TCGA BRCA 2 Hi I have dowloaded the BRCA data from TCGA using TCGABiolinks I have done this: BRCARnaseqSE <- GDCprepare(query.a, directory = “BRCA_all”) sample.info <- SummarizedExperiment::colData(BRCARnaseqSE) Now I want to get data on ER, PR and HER2 – positive, negative…

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Knockdown of GNL3L alleviates the progression of COPD

Introduction Chronic obstructive pulmonary disease (COPD) is a common chronic bronchitis disease characterized by persistent airflow limitation, which can be prevented and treated. COPD is the third leading cause of death in the world reported in 2020.1 With the progression of the disease, COPD will lead to respiratory failure, pulmonary…

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Which Is An Application Of DNA Technology In Medicine

Screening for Genetic Disorders Advances in DNA technology have revolutionized the field of medicine, particularly in the area of screening for genetic disorders. Screening plays a crucial role in identifying individuals who may be at risk of inheriting or passing on certain genetic conditions. By analyzing an individual’s DNA, healthcare…

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Advancing personalized medicine in brain cancer: exploring the role of mRNA vaccines | Journal of Translational Medicine

Personalized medicine aims to revolutionize healthcare by providing tailored treatments based on an individual’s unique characteristics. Genetic information of the host and target plays a crucial role in determining disease susceptibility and treatment response [1, 2]. By utilizing genomic analysis, biomarker identification, risk assessment, tailored treatment strategies, and continuous monitoring,…

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deCODE Genetics Finds 4% of Icelanders Carry an Actionable Genotype

Scientists at deCODE genetics, a subsidiary of Amgen, have been focusing on actionable genotypes detected in the Icelandic population. Recently, the researchers found that approximately 1 in 25 Icelanders carried an actionable genotype and that carrying such a genotype was associated with a reduced life span. This research is published…

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Exploring the Impact of Actionable Genotypes on Lifespan

Scientists at deCODE genetics, a subsidiary of Amgen, have conducted groundbreaking research on actionable genotypes in the Icelandic population. The study, published in The New England Journal of Medicine, reveals that carrying an actionable genotype is linked to a reduced lifespan, a fact that has significant implications for precision medicine…

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RCSB PDB – 8PBD: RAD51 filament on dsDNA bound by the BRCA2 c-terminus

ATPQuery on ATP Download Ideal Coordinates CCD File&nbsp CA [auth C]FA [auth D]IA [auth E]LA [auth F]OA [auth G] CA [auth C],FA [auth D],IA [auth E],LA [auth F],OA [auth G],RA [auth H],UA [auth I],V [auth A],XA [auth J],Z [auth B] Less ADENOSINE-5′-TRIPHOSPHATEC10 H16 N5 O13 P3ZKHQWZAMYRWXGA-KQYNXXCUSA-N CAQuery on CA Download…

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ABCB1 and immune genes in breast cancer

Introduction Chemoresistance is a major challenge for breast cancer treatment.1 The mechanisms of chemoresistance are complex because of crosstalk between receptor tyrosine kinases and downstream pathways, deregulation of cell-cycle and apoptosis regulators, and modulation of tumor-infiltrating immune cells.2 The ATP-binding cassette (ABC) superfamily is one of the largest families of…

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Personalized Treatment Sequencing Is a New Way of Thinking in Breast Cancer

Sara M. Tolaney, MD, MPH, chief of the Division of Breast Oncology and associate director of the Susan F. Smith Center for Women’s Cancers, senior physician at Dana-Farber Cancer Institute, and associate professor of medicine at Harvard Medical School, all in Boston, Massachusett In a rapidly evolving field, new strides…

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Uncertain futures and unsolicited findings in pediatric genomic sequencing: guidelines for return of results in cases of developmental delay | BMC Medical Ethics

Guidelines for informed consent & return of results To tailor informed consent and return of UFs to the situations of children undergoing WES in trio-analysis (in which the parents’ and child’s DNA is sequenced and interpreted) for clarifying a DD, the guidelines we propose contain two important features. Firstly, instead…

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Most large structural variants in cancer genomes can be detected without long reads

JaBbA v1 outperforms previous CN algorithms We enhanced our previous JaBbA (v0.1; ref. 4) model with several methodological innovations to increase robustness to read depth waviness, improve algorithm convergence and enforce junction balance for allele-specific as well as total CN (Extended Data Fig. 1a–d and Methods). We also rigorously defined…

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Shallow whole genome sequencing approach to detect Homologous Recombination Deficiency in the PAOLA-1/ENGOT-OV25 phase-III trial

Polak P, Kim J, Braunstein LZ, Karlic R, Haradhavala NJ, Tiao G, et al. A mutational signature reveals alterations underlying deficient homologous recombination repair in breast cancer. Nat Genet. 2017;49:1476–86. Article  CAS  PubMed  PubMed Central  Google Scholar  Birkbak NJ, Wang ZC, Kim JY, Eklund AC, Li Q, Tian R, et…

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DNA study reveals BRCA1 mutations in three sisters, prompts life-changing decisions

Sisters left to right: Chris Swatfager, Cindy Larson, Carrie Patnode and Amy Scheid. Credit: Chris Swatfager Sisters often share certain genetic traits, such as hair color and facial features. But for three sisters from Minnesota, they discovered a much deeper connection—a shared genetic mutation known to dramatically increase their risk…

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Characterization of the genomic alterations in poorly differentiated thyroid cancer

Cancer Genome Atlas Research, N. Integrated genomic characterization of papillary thyroid carcinoma. Cell 159, 676–690. doi.org/10.1016/j.cell.2014.09.050 (2014). Sherman, S. I. Thyroid carcinoma. Lancet 361, 501–511. doi.org/10.1016/s0140-6736(03)12488-9 (2003). Article  PubMed  Google Scholar  Tong, J. et al. Poorly differentiated thyroid carcinoma: a clinician’s perspective. Eur. Thyroid J. 11, doi.org/10.1530/ETJ-22-0021 (2022). Asioli, S….

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Impact of germline DNA repair gene variants on prognosis and treatment of men with advanced prostate cancer

In this study, we demonstrate an independent effect of germline DNA repair gene variants on the outcomes of patients with advanced PC. Despite carrier numbers being limited, we were able to identify germline DRG carrier status as an independent prognostic factor for PFS on first-line ARSI treatment, time to progression…

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Bioinformatics analysis and experimental validation of tumorigenic role of PPIA in gastric cancer

Expression of PPIA in pan-cancer and prognostic value of PPIA in GC To assess the effects of PPIA on the genesis of human tumor, TCGA database was utilized to detect the mRNA levels of PPIA in 33 types of cancer. The findings demonstrated that the levels of PPIA were upregulated…

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Epigenetic regulation during cancer transitions across 11 tumour types

Specimen data All samples for MM, OV, BRCA, PDAC, UCEC, CRC, CESC/AD, SKCM and HNSCC, as well as 2 NATs for GBM and 1 NAT for ccRCC were collected with informed consent in concordance with Institutional Review Board (IRB) approval at the School of Medicine at Washington University in St…

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DNA damage response(DDR): a link between cellular senescence and human cytomegalovirus | Virology Journal

Hayflick L, Moorhead PS. The serial cultivation of human diploid cell strains. Exp Cell Res. 1961;25:585–621. Article  CAS  PubMed  Google Scholar  Hayflick L. THE LIMITED IN VITRO LIFETIME OF HUMAN DIPLOID CELL STRAINS. Exp Cell Res. 1965;37:614–36. Article  CAS  PubMed  Google Scholar  Schmitt CA, Tchkonia T, Niedernhofer LJ, Robbins PD,…

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What does the future hold?

In this interview, Adanma Ayanambakkam, MD, discusses the current state of treatment of advanced bladder cancer, including the need for predictive and prognostic markers for immune therapy as well as the potential showed by circulating tumor DNA (ctDNA). Ayanambakkam is an assistant professor of medicine in the section of hematology/oncology…

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CRISPR/Cas9-mediated knock-in of BRCA1/2 mutations restores response to olaparib in pancreatic cancer cell lines

Rawla, P., Sunkara, T. & Gaduputi, V. Epidemiology of pancreatic cancer: Global trends, etiology and risk factors. World J. Oncol. 10, 10–27 (2019). Article  PubMed  PubMed Central  Google Scholar  Lambert, A. et al. An update on treatment options for pancreatic adenocarcinoma. Ther. Adv. Med. Oncol. 11, 1758835919875568 (2019). Article  PubMed …

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Myriad Genetics (NASDAQ:MYGN) Sets New 1-Year Low at $13.82

Myriad Genetics, Inc. (NASDAQ:MYGN – Get Free Report) shares reached a new 52-week low during trading on Friday . The stock traded as low as $13.82 and last traded at $13.96, with a volume of 12469 shares traded. The stock had previously closed at $14.21. Wall Street Analyst Weigh In…

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What Factors Influence ALCL Cancer With Breast Implants?

What Factors Influence ALCL Cancer With Breast Implants? Skip To Main Content Home/Blog/ALCL update- findings from 248 cases Posted on October 24, 2023 This is out of the Aesthetic Journal. It was a retrospective study looking at 248 cases of BIA ALCL.  This isn’t adding a ton to what…

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From innovation to impact: Harnessing Real-World data to generate Real-World insights that accelerate the impact of precision medicine in Breast Cancer Treatment

Breast cancer affects millions of people worldwide. In 2020, 2.3 million women were diagnosed with breast cancer globally (1). In the UK, it is the most common cancer among women, with over 55,000 new cases diagnosed each year (2). Around 0.5-1% of breast cancers occur in men (1). In the…

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Merck Announces Third-Quarter 2023 Financial Results

October 26, 2023 6:30 am ET Sales Reflect Sustained Growth, Particularly in Oncology and Vaccines Total Worldwide Sales Were $16.0 Billion, an Increase of 7% From Third Quarter 2022; Excluding LAGEVRIO, Growth Was 6%; Excluding LAGEVRIO and the Impact of Foreign Exchange, Growth Was 8% KEYTRUDA Sales Grew 17% to…

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HOXC-AS3 as an Oncological Biomarker and Therapeutic Target

1Department of Gastrointestinal Surgery, The Second Affiliated Hospital of Nanchang University, Nanchang, Jiangxi, 330008, People’s Republic of China; 2Department of General Surgery, Jiujiang Hospital of Traditional Chinese Medicine, Jiujiang, Jiangxi, 332007, People’s Republic of China; 3Queen Mary School, Nanchang University, Nanchang, Jiangxi, 330038, People’s Republic of China Correspondence: Hongliang Luo,…

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The Age of Aquarius – RNA, the Epicenter of Genetic Information

The veil on genetic information was lifted by the advent of gene cloning and sequencing technologies in the 1970s. The discovery and purification of bacterial nucleases capable of cutting DNA at specific sequences and ligases capable of joining them enabled DNA from any species – or mRNAs converted to complementary…

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Final Multivariate Analysis from the Phase 3 MAGNITUDE Study Shows Trend Toward Improvement in Overall Survival in Patients with mCRPC with BRCA Alterations Treated with Niraparib and Abiraterone Acetate Plus Prednisone

Niraparib and abiraterone acetate plus prednisone combination therapy also showed clinically relevant improvement versus standard of care in time to symptomatic progression and time to cytotoxic chemotherapy MADRID, Oct. 22, 2023 /PRNewswire/ — The Janssen Pharmaceutical Companies of Johnson & Johnson today announced results from the final analysis (FA) of…

Continue Reading Final Multivariate Analysis from the Phase 3 MAGNITUDE Study Shows Trend Toward Improvement in Overall Survival in Patients with mCRPC with BRCA Alterations Treated with Niraparib and Abiraterone Acetate Plus Prednisone

Survival Benefit Shown With Niraparib Plus Abiraterone in BRCA+ mCRPC

Kim Nguyen N. Chi, MD, FRCPC Increased overall survival (OS) was demonstrated with niraparib (Zejula) plus abiraterone acetate (Zytiga) and prednisone (AAP) vs AAP alone in patients with BRCA1/2-mutated (BRCA+) metastatic castration-resistant prostate cancer (mCRPC), according to the phase 3 MAGNITUDE trials (NCT03748641) updated data presented at the ESMO Congress…

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Final Multivariate Analysis from the Phase 3 MAGNITUDE

Niraparib and abiraterone acetate plus prednisone combination therapy also showed clinically relevant improvement versus standard of care in time to symptomatic progression and time to cytotoxic chemotherapy1 BEERSE, BELGIUM, Oct. 22, 2023 (GLOBE NEWSWIRE) — The Janssen Pharmaceutical Companies of Johnson & Johnson today announced results from the final analysis…

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Global Access Considerations in Systemic Treatment of Genitourinary Cancers

(UroToday.com) The 2023 European Society of Medical Oncology (ESMO) Annual Congress held in Madrid, Spain between October 20th and 24th, 2023 was host to a new diagnostic tools abstracts poster session. Dr. Xin Ye presented the results of a study evaluating a novel next generation sequencing (NGS) assay for the…

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No Clinical Benefit in rOC With Atezolizumab Plus Chemotherapy

There was no statistically significant improvement in clinical outcomes (including progression-free survival [PFS] and objective response rate [ORR]) observed in patients with recurrent ovarian cancer (rOC) treated with atezolizumab (Tecentriq) in addition to chemotherapy and niraparib (Zejula) maintenance therapy, according to findings from the phase 3 ANITA trial (NCT03598270) presented…

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Pathway-driven analysis of synthetic lethal interactions in cancer using perturbation screens

Introduction Cancer cells are characterized by unrestrained proliferation and dysregulated growth, which lead to the formation of malignant neoplasms (Hanahan & Weinberg, 2023). The development and progression of cancer have been linked to the dysregulation of multiple signaling pathways, including MAPK/ERK, Wnt/β-catenin, PI3K/AKT/mTOR, and NF-kB, which are among crucial pathways…

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Circulating Tumor DNA from Ascites as an alternative to tumor sampling for genomic profiling in ovarian cancer patients | Biomarker Research

To the editor, Genomic testing is crucial for the management of ovarian cancer (OC). Approximately 25% of high-grade OC have germline or somatic BRCA1 or BRCA2 mutations [1]. 50% of high-grade OC are homologous recombination deficient (HRD). HRD is defined by the detection of a BRCA1 or BRCA2 mutation, or…

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Genetic Testing for Breast Cancer

Genetic testing in breast cancer allows for personalized treatment that can improve patient outcomes, but it can be challenging to implement genetic testing in practice, according to experts.1-5 Genetic testing results can inform decisions about the extent of breast surgery, the optimal systemic treatment, and whether a patient should avoid…

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PHF5A is a potential diagnostic, prognostic, and immunological biomarker in pan-cancer

PHF5A expression analysis Figure 1A demonstrated that PHF5A expression level was compared between tumor and corresponding normal tissues using TIMER2 tool. As compared to normal tissues, PHF5A expression was considerably elevated in Bladder urothelial carcinoma (BLCA), Breast invasive carcinoma (BRCA), Cholangiocarcinoma (CHOL), Colon adenocarcinoma (COAD), Esophageal carcinoma (ESCA), Head and neck…

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Esther Rantzen celebrates Express role in breast cancer gene discovery

For far too many years breast cancer was a taboo subject. I’ve been told that many women were so frightened of the diagnosis they refused to visit their doctor, because they felt it was a death sentence. Few people dared hope that one day effective treatments could be found. But in 1989…

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The role and impact of alternative polyadenylation and miRNA regulation on the expression of the multidrug resistance-associated protein 1 (MRP-1/ABCC1) in epithelial ovarian cancer

Domcke, S. et al. Evaluating cell lines as tumour models by comparison of genomic profiles. Nat. Commun. 4, 2126 (2013). Article  ADS  PubMed  Google Scholar  Köbel, M. et al. Ovarian carcinoma subtypes are different diseases: Implications for biomarker studies. PLoS Med. 5(12), e232 (2008). Article  PubMed  PubMed Central  Google Scholar …

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Assessing Cancer Risk? Here’s What the New DNA Test Can Do

A novel DNA test system that assesses a person’s genetic predisposition for certain cancers —the first of its kind granted marketing authorization by the US Food and Drug Administration (FDA) — may become a valuable new public health tool. The Common Hereditary Cancers Panel (Invitae Corp.) was approved late last…

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The Therapeutic Effects of MUC1-C shRNA@Fe3O4 Magnetic Nanoparticles i

Introduction Breast cancer (BC) is a malignant tumor originating from the epithelial tissue of the breast and is the most common malignancy in women.1 It is estimated that by 2040, there will be 3,000,000 new cases of BC and 100,000 deaths worldwide. Triple-negative breast cancer (TNBC), which accounts for 15–20%…

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A Look Back at the FDA News From September 2023

In September 2023, the FDA granted approval to 3 agents, including motixafortide in combination with filgrastim to aid in hematopoietic stem cell mobilization in patients with multiple myeloma, momelotinib (Ojjaara) for the treatment of patients with myelofibrosis and anemia, and bosutinib for pediatric patients aged 1 year or older with…

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Progress and challenges in completing the human gene catalogue

In a recent review published in Nature, a group of authors reviewed the progress and challenges in annotating the human genome, including protein-coding genes, isoforms, and non-coding ribonucleic acids (RNAs), and advocated for a universal annotation standard for clinical use. Study: The status of the human gene catalogue. Image Credit:…

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The status of the human gene catalogue

Understanding our Genetic Inheritance: The US Human Genome Project, The First Five Years 1991-1995 (US Department of Health and Human Services, US Department of Energy, 1990). Nurk, S. et al. The complete sequence of a human genome. Science 376, 44–53 (2022). Describes the first complete gap-free assembly and annotation of…

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The BRCA1/BARD1 complex recognizes pre-ribosomal RNA to facilitate homologous recombination

doi: 10.1038/s41421-023-00590-8. Affiliations Expand Affiliations 1 Westlake Laboratory of Life Sciences and Biomedicine, Hangzhou, Zhejiang, China. 2 School of Life Sciences, Westlake University, Hangzhou, Zhejiang, China. 3 Institute of Basic Medical Sciences, Westlake Institute for Advanced Study, Hangzhou, Zhejiang, China. 4 Westlake Disease Modeling Lab, Westlake Laboratory of Life Sciences…

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FDA Grants Marketing Authorization to First DNA Test to Assess Genetic Predisposition to Select Cancers

The FDA has granted de novo marketing authorization for the Invitae Common Hereditary Cancers Panel, an in vitro diagnostic test designed to detect genetic variants associated with an elevated risk of developing certain types of cancer.1 Additionally, the panel could also help identify potential cancer-associated variants in patients who have…

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FDA Clears Test That Detects Hereditary Gene Variants Linked to Certain Cancers

The Food and Drug Administration (FDA) has cleared the Invitae Common Hereditary Cancers Panel, an in vitro diagnostic test that assesses an individual’s predisposition for certain cancers.  Designed for heritable germline mutations, the test analyzes 47 genes known to be associated with elevated risk for developing breast, ovarian, uterine, prostate,…

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At the cross-road of cGAS-cGAMP-STING pathway and DNA damage response: implications for cancer progression and treatment[v1]

Preprint Review Version 1 This version is not peer-reviewed Version 1 : Received: 30 September 2023 / Approved: 2 October 2023 / Online: 2 October 2023 (10:57:16 CEST) Korneenko, T.V.; Pestov, N.B.; Nevzorov, I.A.; Daks, A.A.; Solopova, O.N.; Trachuk, K.N.; Barlev, N.A. At the cross-road of cGAS-cGAMP-STING pathway and DNA…

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Ronald Blue Trust Inc. Significantly Reduces Stake in Myriad Genetics, Inc.: A Glimpse into Investment Strategy and Market Dynamics

October 2, 2023 Myriad Genetics, Inc. Experiences a Significant Reduction in Stake by Ronald Blue Trust Inc. On October 2, 2023, it was reported that financial services firm Ronald Blue Trust Inc. has significantly lessened its stake in Myriad Genetics, Inc. (NASDAQ: MYGN). According to the company’s most recent 13F…

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Invitae’s First of Its Kind Cancer Test Receives FDA Marketing Authorization

Mutations to the BRCA1 and BRCA2 genes significantly increase the chances of breast and ovarian cancers, and a test can assess a person’s risk from those variants. But those are just two genes of many known genetic drivers of cancer. The FDA has granted marketing authorization to an Invitae test…

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First Blood Test for Dozens of Hereditary Cancers Approved by FDA

Credit: Nadasaki / Getty Images The FDA has approved the first blood test that can help identify hundreds of potentially cancer-associated hereditary variants. The Invitae Common Hereditary Cancers Panel evaluates a blood sample to identify DNA variants in 47 genes associated with an elevated risk of developing certain types of…

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FDA Grants First Marketing Authorization for a DNA Test to Assess Predisposition for Dozens of Cancer Types

For Immediate Release: September 29, 2023 Today, the U.S. Food and Drug Administration granted de novo marketing authorization for the Invitae Common Hereditary Cancers Panel, an in vitro diagnostic test that can help detect hundreds of genetic variants associated with an elevated risk of developing certain cancers. The test can…

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IJMS | Free Full-Text | CRISPR-Cas9 Direct Fusions for Improved Genome Editing via Enhanced Homologous Recombination

Over the past decade, CRISPR-Cas9 has found widespread application in loss-of-function mutations, but precise genetic engineering for gene correction or gene replacement therapies has lagged behind. In vivo correction using CRISPR-Cas9 to replace genetic mutations by HR is highly challenging, and very few studies have managed to achieve this [31,32]….

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Genes Linked to Aggressive Prostate Cancer

Researchers say they have identified genes that should be considered for gene panel testing in prostate cancer. The researchers found evidence to suggest that variants in BRCA2, ATM, NBN, MSH2, XRCC2, and MRE11A are associated with aggressive prostate cancer. These findings were published in JAMA Oncology. For this study, researchers…

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GDC TCGA BRCA

– In TCGA BRCA data (Legacy data),  dataset: gene expression RNAseq – IlluminaHiSeq from tcga.xenahubs.net have  20,531 identifiers corresponding to about 20000 genes. However,  in GDC TCGA BRCA data ( Harmonized Data),  dataset: gene expression RNAseq – HTSeq – Counts from hub: gdc.xenahubs.net, there are  60,489 identifiers. What is the difference between them?…

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11 genes linked to aggressive prostate cancer mutations

A big group of scientists, led by experts at University of Southern California, found problems in 11 genes connected to terrible prostate cancer. They did the most significant study ever on prostate cancer genes, looking at the essential parts of our genetic code. They checked samples from around 17,500 guys…

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Q1 2024 EPS Estimates for Myriad Genetics, Inc. Reduced by Leerink Partnrs (NASDAQ:MYGN)

Myriad Genetics, Inc. (NASDAQ:MYGN – Free Report) – Stock analysts at Leerink Partnrs lowered their Q1 2024 earnings per share estimates for shares of Myriad Genetics in a report released on Wednesday, September 20th. Leerink Partnrs analyst P. Souda now anticipates that the company will earn ($0.15) per share for…

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Recent research in prostate cancer: Breakthroughs and innovations

Prostate cancer is the second most commonly occurring cancer in men. More than 1.4 million people were diagnosed with prostate cancer in 2020, according to the World Cancer Research Fund International. While some prostate cancers develop too slowly, to the extent that some people will not need any treatment during…

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Everything You Need to Know About Getting Your Genome Sequenced

In comparison, whole-genome sequencing determines every single base pair of DNA, and is much more expensive as a result. If you printed out all 6.4 billion letters of your whole genome, it would fill around 4,200 average-size books. A service like 23andMe provides a snapshot—around 1 percent of your DNA,…

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Consistency of BRCA1 and BRCA2 Variant Classifications Among Clinical Diagnostic Laboratories.

Abstract BACKGROUND: Genetic tests of the cancer predisposition genes BRCA1 and BRCA2 inform significant clinical decisions for both physicians and patients. Most uncovered variants are benign, and determining which few are pathogenic (disease-causing) is sometimes challenging and can potentially be inconsistent among laboratories. The ClinVar database makes de-identified clinical variant…

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Duality Advisers LP Reduces Holdings in Myriad Genetics, Inc.

September 19, 2023 – Duality Advisers LP, a prominent financial advisory firm, has recently announced a significant reduction in its holdings of Myriad Genetics, Inc. (NASDAQ:MYGN). According to the company’s Form 13F filing with the Securities & Exchange Commission, Duality Advisers LP sold off 33,315 shares during the first quarter…

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How CRISPR and chemotherapy are joining forces to combat tumors

A new approach to cancer treatment combines gene editing with a known chemotherapy drug, harnessing the benefits of both for better outcomes. The fight against cancer has taken on many forms. These approaches include treatments like chemotherapy, gene therapy, radiation therapy, and immunotherapy, to name a few, but cancer cells…

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New Genome Editing Method, NICER, May Reduce Off-Target Mutations

A novel genome editing technique, NICER, is based on the creation of multiple nicks in single DNA strands by nickase. The method can correct heterozygous mutations using two mechanisms: multiple nicks induced by Cas9 nickase and a homologous chromosome as an endogenous repair template. The researchers suggest that NICER is…

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Genetic testing and unnecessary breast surgery in women

Genetic testing has become crucial for assessing an individual’s risk of hereditary cancers, including breast cancer. However, the accuracy of these tests and their interpretation, especially in relation to family history, can significantly impact clinical decisions. This study aims to shed light on whether women with a family history of…

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The 5 Groundbreaking Advances In Biotechnology And Genetics

Unprecedented strides in biotechnology and genetics have radically transformed the scientific landscape. These advancements, notably CRISPR-Cas9 gene editing, gene therapy breakthroughs, emergence of personalized medicine, exploration of synthetic biology and novel gene-editing techniques, signify a revolutionary era in science with far-reaching implications. This article seeks to illuminate these pioneering developments…

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10 benefits of genome testing for everyday life | Health

ByZarafshan Shiraz, New Delhi Genome testing determines the interplay between genes, nutrition and health; helps to personalise the diet and nutrition; provides us with a blueprint for optimal health and wellness and reveal why certain nutrients or diets works for an individual and why it doesn’t work for others. Genomic…

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Genetic Testing Risk Inflation May Lead to Unneeded Breast Surgeries

Women could be opting to have unnecessary surgery to avoid breast cancer, after being told they are at high risk from genetic test results which do not take family history into account. The authors of new research led by the University of Exeter have warned that women who discover, outside…

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Insights From Dublin: Fostering Precision Oncology for Better Patient Outcomes

Published 6 hours ago Submitted by Illumina The Illumina team and booth at ECP 2023 | Photo: Michael Rowland Originally published on Illumina News Center The 35th European Congress of Pathology (ECP), taking place September 9–13 in Dublin, Ireland, is a focal point for pathologists from over 100 countries and…

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Combination of PARP inhibitor and CDK4/6 inhibitor modulates cGAS/STING-dependent therapy-induced senescence and provides “one-two punch” opportunity with anti-PD-L1 therapy in colorectal cancer

doi: 10.1111/cas.15961. Online ahead of print. Tao Wang  1   2 , Weizhen Liu  1 , Qian Shen  3 , Ruikang Tao  4 , Chengguo Li  1 , Qian Shen  1 , Yao Lin  1 , Yongzhou Huang  1 , Lei Yang  1 , Gengchen Xie  1 , Jie Bai  1 , Ruidong Li  1 , Lulu Wang  5 , Kaixiong Tao  1…

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Genetic Testing Market – Top a Valuation of USD 39.2 Bn by

New York, Sept. 11, 2023 (GLOBE NEWSWIRE) — According to Market.us, the Global Genetic Testing Market size is projected to surpass around USD 39.2 billion by 2032, and it is poised to reach a CAGR of 9.7% from 2023 to 2032. Genetic testing is a specialized medical examination designed to detect…

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Genetic Cancer Hereditary Cancer Mutations Susceptibility To Cancer Genetic Changes

Genetic Cancers: Welcome back to “The Science Of Health”, ABP Live’s health column. Last time, in the health column, we discussed the difference between small cell lung cancers and non-small cell lung cancers, and explained why small cell lung cancers are less common than non-small cell lung cancers, despite the…

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Myriad Genetics (NASDAQ:MYGN) Shares Down 3.2%

Myriad Genetics, Inc. (NASDAQ:MYGN – Get Free Report)’s stock price traded down 3.2% during mid-day trading on Friday . The stock traded as low as $15.95 and last traded at $15.95. 10,102 shares traded hands during trading, a decline of 98% from the average session volume of 550,781 shares. The…

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TCGAbiolinks not working anymore

TCGAbiolinks not working anymore 0 The script in this tutorial does not work anymore bioconductor.org/packages/devel/bioc/vignettes/TCGAbiolinks/inst/doc/analysis.html I get to GDCprepare stage and get error: Starting to add information to samples => Add clinical information to samples => Adding TCGA molecular information from marker papers => Information will have prefix paper_ brca…

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Increased Stake in Myriad Genetics: A Promising Investment for HRT Financial LP

On September 7, 2023, it was reported that HRT Financial LP had increased its stake in Myriad Genetics, Inc. by a staggering 176.3% during the first quarter of the year. This information was disclosed in the company’s most recent 13F filing with the Securities and Exchange Commission (SEC). The institutional…

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Ovarian cancer research: five recent breakthroughs

With around 7500 new cases reported in the U.K. alone every year, ovarian cancer may occur because of the inheritance of faulty genes like BRCA. Although the exact reason for cancer-causing genetic mutations is unknown – as with all other kinds of cancer – ovarian cancer research has shown that…

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Converting the TCGA ID to the Cohort ID

Converting the TCGA ID to the Cohort ID 0 Hello everyone, I am basically trying to map between DepMap lineage and TCGA cohorts. In the depmap annotation file there is lineage column which contains disease names. There is a page in the DepMap called depmap.org/portal/celligner/ which I can download alignment…

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Myriad Genetics Receives Mixed Ratings from Analysts; Reports Quarterly Financial Results

Myriad Genetics, Inc. (NASDAQ:MYGN) has recently received an average rating of “Hold” from a group of five ratings firms covering the company, as reported by Bloomberg Ratings on September 1, 2023. Out of the five research analysts, one has rated the stock as a sell, two have given it a…

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ASCO Reading Room | ‘Negligible Clinical Activity’ for Olaparib in Patients With Predominantly Platinum-resistant Metastatic Urothelial Cancer

In patients with solid organ malignancies harboring germline or somatic alterations in DNA damage response (DDR), poly (ADP-ribose) polymerase (PARP) inhibitors have demonstrated therapeutic benefit. Such alterations have also been identified in patients with metastatic urothelial carcinoma; however, the efficacy of PARP inhibition in this particular population has not been…

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Credit Suisse AG Reduces Holdings in Myriad Genetics, Inc.: An Investment Strategy Shift

Credit Suisse AG, a global financial services company, recently disclosed a reduction in its holdings of Myriad Genetics, Inc. According to its 13F filing with the Securities and Exchange Commission (SEC), the firm decreased its ownership by 17.7% during the first quarter of this year. As a result, Credit Suisse…

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