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Genomics/Genetics

Variant in Gene May Increase Cancer Risk in Those With Common TP53 R337H Mutations

Scientists studying a common TP53 R337H variant found among people of Brazilian descent discovered that a variant in the tumor-suppressor gene XAF1 increases cancer risk when combined with the inherited TP53 R337H mutation. These findings were published by Pinto et al in Science Advances. “We...

Genomics/Genetics
Solid Tumors

Young Adults With Cancer May Benefit From Germline Genetic Testing

According to the National Cancer Institute, each year, about 70,000 adolescents and young adults (AYA)—those between the ages of 15 and 39—are diagnosed with cancer. Evidence suggests that some cancers found in AYA patients may have unique genetic and biologic features. A study that investigated...

Solid Tumors
Genomics/Genetics

FGFR1–3 Inhibitor AZD4547 in Refractory Tumors Harboring FGFR Activating Mutations and Fusions

As reported in the Journal of Clinical Oncology by Chae et al, findings in a cohort of the phase II NCI-MATCH trial (EAY131, Subprotocol W) indicated that the oral inhibitor of fibroblast growth factor receptor 1, 2, and 3 (FGFR1–3), AZD4547, produced a small number of responses in patients with a...

Pancreatic Cancer
Genomics/Genetics

First-Line Platinum-Based Chemotherapy for Patients With Metastatic Pancreatic Cancer and Defects in Homologous Recombination Genes

Patients with metastatic pancreatic cancer who had germline or somatic mutations in DNA repair genes had better clinical outcomes after platinum-based chemotherapy compared to patients without these mutations, according to results from a study published by Park et al in Clinical Cancer Research....

Multiple Myeloma
Genomics/Genetics

Genomic Characteristics of Smoldering Multiple Myeloma and Risk of Progression

In a study reported in the Journal of Clinical Oncology, Mark Bustoros, MD, and colleagues identified genomic features of smoldering multiple myeloma associated with a higher risk of progression to multiple myeloma and found that alterations that drive disease progression are already present at the ...

Solid Tumors
Genomics/Genetics

RET Kinase Inhibitor for Patients With Solid Tumors and RET Genetic Fusions

The RET inhibitor pralsetinib showed activity in patients with a broad variety of tumors harboring RET gene fusions, according to results from the phase I/II ARROW trial, presented by Vivek Subbiah, MD, and colleagues during the ASCO20 Virtual Scientific Program (Abstract 109). “This trial shows...

Breast Cancer
Gynecologic Cancers
Genomics/Genetics

Remote Pre- and Posttest Genetic Counseling for Breast and Ovarian Cancer Risk

Genetic testing for cancer risk can significantly improve the prevention or treatment of hereditary cancers, but studies have shown that people who might have a genetic risk often don't get tested. A collaborative team of researchers have tested a possible solution through a clinical trial aimed at ...

Genomics/Genetics
Issues in Oncology

Precision Medicine Is Becoming a Reality for Pediatric Patients With Cancer

Although 84% of children with cancer survive 5 years or more, children with refractory, relapsed, and progressive high-risk malignancies have a poor median survival of 9.5 months. The German INFORM registry is a large prospective, noninterventional, multicenter study collecting clinical and...

Genomics/Genetics

How California Dreamer John Craig Venter, PhD, Changed Paths to Focus on Sequencing the Human Genome

In this edition of the Living a Full Life series, guest editor Jame Abraham, MD, FACP, spoke with John Craig Venter, PhD, Founder, Chairman, and Chief Executive Officer of the J. Craig Venter Institute, a nonprofit organization dedicated to human, microbial, and environmental genomic research. A...

Lung Cancer
Genomics/Genetics

Germline Genetic Variants in ATM and Lung Cancer Susceptibility

An international consortium of researchers has identified a mutation involved in a person’s susceptibility to lung cancer. This variant could help identify certain populations at greater risk for lung cancer, according to results reported by Ji et al in Nature Communications. ATM Variant Their...

Lung Cancer
Thyroid Cancer
Genomics/Genetics

FDA Approves Selpercatinib for Lung and Thyroid Cancers With RET Mutations or Fusions

On May 8, 2020, the U.S. Food and Drug Administration (FDA) granted accelerated approval to selpercatinib (Retevmo) for the following indications: Adult patients with metastatic RET fusion–positive non–small cell lung cancer (NSCLC) Adult and pediatric patients ≥ 12 years of age with advanced or...

Breast Cancer
Genomics/Genetics

Joint Guideline Sheds Light on Management of Hereditary Breast Cancer

As germline genetic testing becomes more widespread among patients with breast cancer, recommendations for the appropriate management of patients with hereditary breast cancer are needed. Until now, no ASCO guideline has addressed the management of hereditary breast cancer, even for carriers of...

Genomics/Genetics

AACR 2020: Cell-Free DNA Liquid Biopsy May Provide an Early Detection Test for Patients With Suspected Cancer

The Circulating Cell-free Genome Atlas Study is a large multicenter, case-controlled, observational study of 15,254 participants, 56% with cancer and 44% without cancer, with longitudinal follow-up to support the development of a cell-free DNA (cfDNA) multicancer early detection test. In this phase ...

Genomics/Genetics

How CRISPR-Cas9 Gene Editing May Improve the Effectiveness of Cellular Therapeutics in Patients With Cancer

The results from the first in-human phase I clinical trial in the United States evaluating CRISPR-Cas9–edited T cells in patients with advanced cancer has shown that the therapy is both feasible and safe, representing a big step forward in the potential of using gene editing to boost the natural...

Breast Cancer
Genomics/Genetics

Should Restrictions on Genetic Testing Be Loosened?

The loosening of restrictions on genetic testing would mean that all health-care providers could help move this needle to where it should be, according to Kevin S. Hughes, MD, a surgeon at Massachusetts General Hospital, Professor of Surgery at Harvard Medical School, and Medical Director of the...

Genomics/Genetics
Solid Tumors
Hematologic Malignancies

Methylation Signatures From Sequencing Circulating Cell-Free DNA Detected Different Types of Cancer Across Multiple Stages

Researchers have developed the first blood test that can accurately detect more than 50 types of cancer and identify in which tissue the cancer originated—often before there are any clinical signs or symptoms of the disease. These findings were published by Liu et al in Annals of Oncology. In their ...

Solid Tumors
Genomics/Genetics

First-in-Human Study of RAF Family Kinase Inhibitor Lifirafenib in Solid Tumors

In a first-in-human phase I trial reported in the Journal of Clinical Oncology, Desai et al found that the RAF family kinase inhibitor lifirafenib produced responses in several solid tumor types in patients with BRAF or KRAS/NRAS mutations. Study Details The study, conducted in Australia and New...

Issues in Oncology
Global Cancer Care
Genomics/Genetics

International Uptake of Molecular Testing Across Tumor Types: Analysis of Eight Countries

In a study reported in JCO Oncology Practice, Chambers et al found that use of molecular testing across tumor types often varied widely in several countries, sometimes reflecting regional differences in the incidence of cancer types. Study Details The study involved the use of aggregated results of ...

Pancreatic Cancer
Genomics/Genetics

Genetic Counseling and Testing of Patients With Pancreatic Cancer

Routine genetic counseling and multigene testing of patients with pancreatic cancer result in the detection of mutations that are actionable, not only for patients, but also for at-risk family members. At the Dana-Farber Cancer Institute in Boston, the use of a systemized, automated referral system ...

Breast Cancer
Genomics/Genetics

Association of Germline Variant Status and Response to Neoadjuvant Chemotherapy in High-Risk Early Breast Cancer

In a study of the GeparOcto trial population reported in JAMA Oncology, Pohl-Rescigno et al found that presence of germline BRCA1/2 variants was associated with increased rates of complete pathologic response (pCR) to neoadjuvant chemotherapy in women with high-risk early breast cancer, and that a...

Breast Cancer
Genomics/Genetics

Evaluation of Genetic Testing in NCCN Criteria for Women With Breast Cancer

In a single-institution study reported in the Journal of Clinical Oncology, Yadav et al found that many women with breast cancer with germline pathogenic genetic variants do not qualify for genetic testing on current National Comprehensive Cancer Network® (NCCN®) hereditary testing criteria....

Gastrointestinal Cancer
Genomics/Genetics

Avapritinib for Gastrointestinal Stromal Tumor With PDGFRA Exon 18 Mutation

On January 9, 2020, avapritinib was approved for treatment of adults with unresectable or metastatic gastrointestinal stromal tumors (GIST) harboring a platelet-derived growth factor receptor alpha (PDGFRA) exon 18 mutation, including D842V mutations.1,2 It is the first therapy approved for...

Genomics/Genetics
Pancreatic Cancer
Issues in Oncology

Geographic and Racial Variability in Germline BRCA Mutation Prevalence Among Patients With Metastatic Pancreatic Cancer

In a study reported in the Journal of Clinical Oncology, Talia Golan, MD, and colleagues identified geographic and ethnic heterogeneity of germline BRCA1/2 mutation prevalence among patients screened for entry into the phase III POLO trial, which examined the efficacy of olaparib maintenance...

Pancreatic Cancer
Genomics/Genetics

Automated Referral Process for Genetic Counseling and Testing of Patients With Pancreatic Cancer

Routine genetic counseling and multigene testing of patients with pancreatic cancer result in the detection of mutations that are actionable, not only for patients, but also for at-risk family members. At the Dana-Farber Cancer Institute, the use of a systemized, automated referral system that does ...

Gynecologic Cancers
Genomics/Genetics

New ASCO Guideline Highlights Need to Improve Germline, Somatic Tumor Testing in Epithelial Ovarian Cancer

A new ASCO clinical practice guideline provides clinicians and other health-care professionals with evidence-based recommendations on genetic and tumor testing for women diagnosed with epithelial ovarian cancer.1 “We wanted to go over the evidence and make strong statements and recommendations...

Breast Cancer
Genomics/Genetics

Neoadjuvant Cisplatin for BRCA-Mutation Carriers: Pruning the Dead Branches

At the 2019 San Antonio Breast Cancer Symposium, Nadine Tung, MD, of Beth Israel Deaconess Medical Center, presented a multisite study called INFORM, run by the Translational Breast Cancer Research Consortium.1 It compared single-agent cisplatin with a “classic” combination of doxorubicin and...

Genomics/Genetics
Hematologic Malignancies

Genetic Mutations in Donor Stem Cells May Affect Hematopoietic Transplant Recipients

A new study on hematopoietic stem cell transplantation from Washington University School of Medicine in St. Louis suggests that extremely rare, harmful genetic mutations present in healthy donors’ stem cells—though not causing health problems in the donors—may be passed on to patients with cancer...

Breast Cancer
Genomics/Genetics
Issues in Oncology

Study Finds Women With Variants in Breast Cancer–Associated Genes May Not Always Be Receiving Guideline-Concordant Care

Women with early-stage breast cancer who test positive for an inherited genetic variant are not always receiving cancer treatment that follows current treatment guidelines, according to findings from a new study published by Allison W. Kurian, MD, MSc, and colleagues in JAMA Oncology. An inherited ...

Breast Cancer
Gynecologic Cancers
Health-Care Policy
Genomics/Genetics

CMS Expands Coverage of Next-Generation Sequencing for Patients With Breast or Ovarian Cancer

On January 27, the Centers for Medicare & Medicaid Services (CMS) took action to cover U.S. Food and Drug Administration–approved or –cleared laboratory diagnostic tests using next-generation sequencing (NGS) for patients with germline ovarian or breast cancer. Over the last several years, CMS ...

Colorectal Cancer
Genomics/Genetics

2020 GI Cancers Symposium: Data From Colorectal Cancer Cohorts of TAPUR Study Presented

Positive findings from three Targeted Agent and Profiling Utilization Registry (TAPUR) study cohorts on the potential benefit of various molecularly targeted drugs in patients with advanced colorectal cancer were presented at the 2020 Gastrointestinal Cancers Symposium. The TAPUR study is the first ...

Pancreatic Cancer
Genomics/Genetics

Genomic Aberrations and Pancreatic Cancer Subtypes

Researchers have discovered detailed new genetic information about the subtypes of pancreatic cancer. A better understanding of the disease groups may lead to new treatment options and improved clinical outcomes for this lethal disease, Chan-Seng-Yue et al reported in Nature Genetics. The study...

Solid Tumors
Genomics/Genetics

Entrectinib in Advanced or Metastatic NTRK Fusion–Positive Solid Tumors

As reported in The Lancet Oncology by George D. Demetri, MD, and colleagues, integrated analysis of three phase I/II trials has shown high levels of activity of the tropomyosin receptor kinase (TRK) inhibitor entrectinib in advanced NTRK fusion–positive solid tumors. This analysis supported the...

Gastroesophageal Cancer
Genomics/Genetics

Treatment of Advanced Esophagogastric Cancer According to ERCC1 Expression

As reported in the Journal of Clinical Oncology by Iqbal and colleagues, the phase II SWOG S1201 trial showed a progression-free survival benefit with platinum-containing vs nonplatinum treatment among all patients with previously untreated HER2-negative advanced esophagogastric cancer and in a...

Issues in Oncology
Genomics/Genetics

A Systematic Approach to Identifying the Molecular Factors That Lead to Cancer Progression

Although gene mutations are the primary drivers of carcinogenesis, an array of complex and tumor-specific molecular interaction networks determine cancer cell behavior. To learn more about this line of inquiry, The ASCO Post recently spoke with Andrea Califano, Dr., Professor of Chemical Biology...

breast cancer
genomics/genetics

Belinda Kingston, MB ChB, on the Genomic Landscape of Breast Cancer Based on ctDNA Analysis

Belinda Kingston, MB ChB, of the Institute of Cancer Research London, discusses next-generation sequencing results from the plasmaMATCH trial, including the incidence of gene alterations overall, as well as the associations with clinical and pathologic features that may help direct treatment decisions (Abstract GS3-07).

breast cancer
genomics/genetics

Nicholas C. Turner, MD, PhD, on ctDNA Testing to Direct Targeted Therapies in Advanced Breast Cancer

Nicholas C. Turner, MD, PhD, of The Royal Marsden NHS Foundation Trust, discusses findings from the plasmaMATCH trial, which showed that circulating tumor DNA testing offers accurate tumor genotyping to identify patients with rare HER2 and AKT1 mutations and may enable matching them with targeted treatments (Abstract GS3-06).

leukemia
myelodysplastic syndromes
genomics/genetics

Ilaria Iacobucci, PhD, on AML and MDS: Moving Beyond Gene Panel–Based Classifications

Ilaria Iacobucci, PhD, of St. Jude Children’s Research Hospital, discusses her work to more accurately define mutation subtypes in acute myeloid leukemia and myelodysplastic syndromes, as well as the implications for diagnosis, prognosis, and treatment (Abstract LBA-4 ).

Leukemia
Genomics/Genetics

ASH 2019: Genomic Features of AML in Patients Aged 60 or Older May Predict Stem Cell Transplant Outcome

For older patients with acute myeloid leukemia (AML), the prospects for success of a stem cell transplant can often be predicted based on the particular set of leukemic genetic characteristics, according to results presented by Murdock et al at the 2019 American Society of Hematology (ASH) Annual...

Hepatobiliary Cancer
Lymphoma
Neuroendocrine Tumors
Gastrointestinal Cancer
Genomics/Genetics

FDA Pipeline: Recent Designations in Hepatocellular Carcinoma, Cholangiocarcioma, Lymphoma, and More

Over the past few weeks, the U.S. Food and Drug Administration (FDA) granted reviews or designations to treatments for gastrointestinal cancers and lymphoma, and also provided authorizations for products designed to screen for malignancies and tumor mutational burden. Priority Review for Nivolumab...

Breast Cancer
Genomics/Genetics

Factors in Genetic Testing Decisions Among Women With a Personal and Family History of Breast Cancer

In a study reported in the Journal of Oncology Practice, Scott et al identified several factors that motivated breast cancer survivors with high genetic risk to undergo genetic testing and found that clinicians often failed to discuss all relevant factors in decision-making. Study Details The...

Leukemia
Genomics/Genetics
Immunotherapy

Gene Signature to Identify Benefit of Front-Line Fludarabine, Cyclophosphamide, and Rituximab in IGHV-Unmutated CLL

In a retrospective cohort study reported in The Lancet Oncology, Herling et al identified a 17-gene signature that distinguished patients with IGHV-unmutated chronic lymphocytic leukemia (CLL) more likely to achieve long-term remission after front-line chemoimmunotherapy with fludarabine,...

Skin Cancer
Genomics/Genetics

BRAF and MEK Inhibition in Advanced Melanoma With Rare BRAF Mutations

In a study reported in the Journal of Clinical Oncology, Menzer et al found that combined BRAF/MEK inhibitor therapy appeared to be more active than single-inhibitor therapy in advanced melanoma with rare BRAF mutations. Study Details The study involved data from 103 patients with advanced melanoma ...

Breast Cancer
Genomics/Genetics

ASCO Breakthrough: Breast Cancer Gene-Expression Signature May Help Predict Recurrence Postradiotherapy

Researchers have identified a gene pattern that may help predict which patients with breast cancer will have early or late disease recurrence following radiation therapy. The ability to predict the timing of recurrence could change—and improve—treatment strategies and determine the length of...

Genomics/Genetics

ASCO Breakthrough: Effect of ATM Mutations on Response to Radiotherapy

Somatic mutations of DNA damage repair genes like ATM and BRCA1 or BRCA2 may result in poor disease prognosis and chemotherapy resistance. However, a study by Lee et al presented at ASCO Breakthrough: A Global Summit for Oncology Innovators (Abstract 130) investigated the possibility that these...

Colorectal Cancer
Genomics/Genetics

Patients With Metastatic Colorectal Cancer Carrying Class 3 BRAF Mutations May Respond to Anti-EGFR Therapy

Although between 8% and 12% of patients with metastatic colorectal cancer harbor a BRAF gene mutation, not all non-V600 BRAF alterations respond to EGFR antibody treatment, according to findings from a study by Yaeger et al published in Clinical Cancer Research. The study investigated whether...

Genomics/Genetics
Immunotherapy

POLE/POLD1 Mutations Across Cancer Types and Association With Immune Checkpoint Inhibitor Therapy Outcomes

In a research letter published in JAMA Oncology, Wang et al identified the frequency of mutations in DNA polymerase epsilon (POLE) and delta 1 (POLD1) genes across cancer types and found that these mutations were associated with better survival outcomes among patients receiving immune checkpoint...

Breast Cancer
Gynecologic Cancers
Genomics/Genetics

USPSTF Recommendation on Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer

As reported in JAMA, the U.S. Preventive Services Task Force (USPSTF) recommended risk assessment and, if indicated, genetic counseling and testing for potentially harmful BRCA1/2 mutations in women with a personal or family history of breast, ovarian, tubal, or peritoneal cancer or who have...

Genomics/Genetics
Leukemia

Chromosomal Abnormalities and Prognosis in NPM1-Mutant AML

In a study reported in the Journal of Clinical Oncology, Angenendt et al found that adverse-risk cytogenetics were associated with significantly poorer outcomes vs normal karyotype among patients with acute myeloid leukemia (AML) with a nucleophosmin 1 (NPM1) mutation. As stated by the...

Issues in Oncology
Genomics/Genetics

How Technology Is Transforming the Assessment of Inherited Cancer Risk

ASCO published its first statement on genetic testing and its impact on oncology practice over 2 decades ago. Since then, ASCO has revised the statement three times, the most recent in 2015, in response to advances propelled by the sequencing and mapping of the human genome and the identification...

Breast Cancer
Genomics/Genetics

How Laura J. van ’t Veer, PhD, Became an Expert in Genetic Testing for Breast Cancer

Breast cancer researcher and innovator Laura J. van ’t Veer, PhD, was born and reared in Amsterdam in 1957. “During high school, I had a wonderful biology teacher who was going through his own biology studies at the University of Amsterdam, and he was bringing that university-level education into...

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