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Skin Cancer
Genomics/Genetics

Mutational Profile of Acral Nevi May Differ From Acral Melanoma

Melanocytic nevi are nonmalignant growths that arise from pigment-producing cells of the skin. They are mostly found in sun-exposed areas; however, they also can be found in sun-protected areas, such as the palms, soles of the feet, and nail beds, where they are known as acral nevi. While the...

Breast Cancer
Gynecologic Cancers
Pancreatic Cancer
Genomics/Genetics

ACMG Clinical Practice Resource Provides New Guidance for Management of Individuals With PALB2 Gene Variants

The American College of Medical Genetics and Genomics (ACMG) has released a clinical practice resource from a global team of specialists in cancer genetics that will help inform the clinical management of patients who harbor a PALB2 variant and may be at increased risk of developing breast,...

Pancreatic Cancer
Genomics/Genetics

Maintenance Rucaparib in Patients With Platinum-Sensitive Pancreatic Cancer and Germline or Somatic BRCA1, BRCA2, or PALB2 Variants

In a single-institution phase II study reported in the Journal of Clinical Oncology, Kim A. Reiss, MD, and colleagues found that maintenance treatment with the poly (ADP-ribose) polymerase (PARP) inhibitor rucaparib produced responses and was associated with good progression-free survival in...

Genomics/Genetics
Solid Tumors
Hematologic Malignancies

Surveillance Protocol and Early Cancer Detection in Patients With Constitutional Mismatch Repair Deficiency Syndrome

As reported in the Journal of Clinical Oncology by Durno et al in the International Replication Repair Deficiency Consortium (IRRDC), use of an IRRDC surveillance protocol was associated with improved overall survival among patients with constitutional mismatch repair deficiency syndrome (CMMRD)....

Lung Cancer
Genomics/Genetics

ASCO and Ontario Health Publish Joint Update on Guideline for Targeted Therapy in NSCLC With Driver Alterations

ASCO and Ontario Health (Cancer Care Ontario) have jointly published an update1 to the 2017 ASCO guideline2 regarding systemic therapy recommendations for stage IV non–small cell lung cancer (NSCLC) with driver alterations. Guideline Co-Chair Nasser H. Hanna, MD, of the Indiana University Simon...

Gynecologic Cancers
Genomics/Genetics

Expert Point of View: Ursula Matulonis, MD, and Konstantin Zakashansky, MD

Perspectives on ARIEL4 were provided for The ASCO Post by the invited discussant Ursula Matulonis, MD, Professor of Medicine, Harvard Medical School, and Chief of Gynecologic Oncology and the Brock Wilson Family Chair at ­Dana-Farber Cancer Institute, Boston, and by Konstantin Zakashansky, MD,...

Gynecologic Cancers
Genomics/Genetics

Phase III ARIEL4 Confirms Rucaparib’s Benefit in BRCA-Mutated Relapsed Ovarian Cancer

In patients with BRCA-mutated, advanced, relapsed ovarian cancer, treatment with the PARP (poly [ADP-ribose] polymerase) inhibitor rucaparib led to a significant improvement in progression-free survival compared with standard-of-care chemotherapy, according to results of the international phase III ...

Genomics/Genetics
Issues in Oncology
Breast Cancer

Relationship Between Germline BRCA Pathogenic Variants and Diminished Ovarian Reserve

In a study reported in the Journal of Clinical Oncology, Turan et al found the presence of germline BRCA pathogenic variants was associated with diminished ovarian reserve in young women, particularly in those diagnosed with breast cancer and those with BRCA1 variants. Study Details The individual...

Issues in Oncology
Genomics/Genetics

Expanding Role of Liquid Biopsies in Cancer Detection and Therapeutics: Now and in the Near Future

“It is possible that within the next several years, perhaps 75% of cancers can be detected by screening,” Bert ­Vogelstein, MD, PhD, projected at the Society of Surgical Oncology (SSO) 2021 International Conference on Surgical Cancer Care.1 “I anticipate that perhaps 50% of cancers can be detected...

Solid Tumors
Genomics/Genetics

Expert Point of View: Antoni Ribas, MD, PhD

“This study is important because of the large numbers of genetic samples and the significance of the results,” stated Antoni Ribas, MD, PhD, President of the American Association for Cancer Research and Director of Tumor Immunology at UCLA’s Jonsson Comprehensive Cancer Center. “The study included...

Genomics/Genetics
Solid Tumors

Heritability Genes Identified in Childhood Neuroblastoma

Researchers have made progress in unravelling the genetic underpinnings of pediatric neuroblastoma. Two main inherited pathogenic genetic variants have been identified and appear to be associated with worse outcomes: the ALK gene and loss of function in PHOX2B. The research, conducted with the...

Immunotherapy
Lung Cancer
Genomics/Genetics

First-Line Immune Checkpoint Inhibitor Monotherapy vs Chemoimmunotherapy in Advanced NSCLC According to KRAS Variant Status

In a study reported in a research letter in JAMA Oncology, Sun et al found that first-line immune checkpoint inhibitor monotherapy was associated with better overall survival among patients with advanced non–small cell lung cancer (NSCLC) with PD-L1 expression ≥ 50% and KRAS variant vs KRAS...

Colorectal Cancer
Genomics/Genetics

Study Explores Rates of Germline Mutations in Patients With Colorectal Cancer

In a recent study published by Uson Junior et al in Clinical Gastroenterology and Hepatology, researchers found one in six patients with colorectal cancer had an inherited cancer-related genetic mutation, which may be linked to a predisposition to the disease. In addition, the researchers...

Prostate Cancer
Genomics/Genetics

Effect of Genomic Prostate Score Testing on Choice of Active Surveillance in a Predominantly Black Patient Population

In the ENACT study, reported in the Journal of Clinical Oncology, Murphy et al found that use of the 12-gene Genomic Prostate Score (GPS) in a predominantly Black patient population with relatively low-risk prostate cancer tended to be associated with reduced selection of active...

Genomics/Genetics
Lung Cancer

Patient Knowledge and Expectations Regarding Genomic Testing Results

As reported in JCO Oncology Practice by Roth et al, many participants in a biomarker-driven master protocol trial (Lung Cancer Master Protocol [Lung-MAP]; SWOG S1400GEN) did not display correct knowledge or expectations about using the results of genomic testing. Study Details Lung-MAP is a...

Leukemia
Genomics/Genetics

Certain Genetic Mutations May Increase Risk of Death From Infection in Patients With CLL

Death from infection—the leading cause of death for patients with chronic lymphocytic leukemia (CLL)—may be linked to specific gene mutations, according to results from a study published by Else et al in the journal Leukemia. Testing for these mutations could be used to identify patients at a...

Gynecologic Cancers
Genomics/Genetics

Genome-Wide Association Study of Variants Linked to Cervical Preinvasive and Invasive Disease

In a genome-wide association study reported in The Lancet Oncology, Bowden et al identified six independent variants among the PAX8, CLPTM1L, and HLA genes that were associated with risk for invasive cervical cancer or cervical intraepithelial neoplasia grade 3 (CIN3). As stated by the...

Colorectal Cancer
Genomics/Genetics

Patients of Different Races With Early-Onset Colorectal Cancer Exhibit Distinct Genetic Features

Racial differences in genetic mutations were observed among patients with early-onset colorectal cancer, according to data presented by Andreana N. Holowatyj, PhD, MS, during the virtual American Association for Cancer Research (AACR) Annual Meeting 2021 (Abstract 101). The incidence of early-onset ...

solid tumors
gastrointestinal cancer
genomics/genetics

Vivek Subbiah, MD, on RET Fusion–Positive Cancers: Efficacy of Selpercatinib

Vivek Subbiah, MD, of The University of Texas MD Anderson Cancer Center, discusses data on selpercatinib that showed promising activity across a variety of RET fusion–positive cancers, including treatment-refractory gastrointestinal malignancies. This analysis highlights the need for genomic profiling to identify actionable oncogenic drivers.

Lung Cancer
Genomics/Genetics

Expert Point of View: Gillianne G.Y. Lai, MBBS

Gillianne G.Y. Lai, MBBS, of the National Cancer Centre, Singapore, discussed the presentations on novel agents for exon 20 insertion mutations in non–small cell lung cancer (NSCLC), which account for about one-third of tyrosine kinase resistance mutations. Although tyrosine kinase mutations are...

Lung Cancer
Genomics/Genetics

Lung Cancers With Rare EGFR Mutations Being Tackled by Novel Agents

Next-generation inhibitors of epidermal growth factor receptor (EGFR) exon 20 insertion mutations showed promise in patients with advanced non–small cell lung cancer (NSCLC) in early-phase trials presented during the International Association Society for Lung Cancer 2020 World Conference on Lung...

Genomics/Genetics
Issues in Oncology

How Exceptional Responders Are Providing Clues to Personalizing Cancer Treatment

The findings from a recent study of patients with cancer who had an exceptional response to chemotherapy are yielding new clues on the molecular changes in patients’ tumors. These findings may explain the genetic alterations contributing to these patients’ dramatic and long-lasting responses to...

colorectal cancer
genomics/genetics

Heinz-Josef Lenz, MD, and Axel Grothey, MD, on Colorectal Cancer: Molecular Testing and Interpreting an NGS Report

Immunotherapy
Genomics/Genetics
Solid Tumors

Is Tumor Mutational Burden Alone Sufficient to Predict Response to Immunotherapy?

In a letter to the editor published in The New England Journal of Medicine, Benoit Rousseau, MD, and colleagues presented evidence that high tumor mutational burden (TMB) alone is not sufficient to predict improved outcomes with immune checkpoint inhibitor therapy in patients with solid tumors. As...

Gastroesophageal Cancer
Genomics/Genetics

Gene Sequencing, Esophageal Brushings May Identify Patients With Barrett’s Esophagus at Risk for Cancer Progression

A combination of esophageal brushing and extensive genetic sequencing of the sample collected may detect chromosome alterations in people with Barrett’s esophagus, identifying patients at risk for progressing to esophageal cancer. These findings were published by Douville et al in ...

Breast Cancer
Genomics/Genetics

Germline BRCA1/2 and Other Predisposition Genes in Patients With Metastatic Breast Cancer: Prevalence and Association With Prognosis

In a German prospective registry study reported in the Journal of Clinical Oncology, Peter A. Fasching, MD, and colleagues identified the prevalence of germline mutations in BRCA1/2 and other breast cancer risk genes in patients with metastatic disease and found similar prognosis with presence vs...

Lung Cancer
Genomics/Genetics

Patients With NSCLC and Driver Mutations May Be More Likely to Present With Brain Metastasis at Diagnosis

The incidence of brain metastasis at diagnosis in patients with non–small cell lung cancer (NSCLC) harboring driver mutations was high, according to findings presented by Rashkit et al at the European Lung Cancer Virtual Congress 2021 (Abstract 38P). However, these patients achieved treatment...

Head and Neck Cancer
Genomics/Genetics

Tipifarnib for Patients With Advanced HRAS-Mutant Head and Neck Cancer and High Variant Allele Frequency

In a phase II trial reported in the Journal of Clinical Oncology, Ho et al found that tipifarnib produced a high response rate among patients with recurrent or metastatic head and neck squamous cell carcinoma with HRAS mutations and high variant allele frequency. As stated by the investigators,...

Multiple Myeloma
Genomics/Genetics

Role of Whole-Genome Sequencing in Identifying Patients With MGUS at Risk of Progression to Multiple Myeloma

A study published by Oben et al in Nature Communications has shown that whole-genome sequencing can help determine which patients with a multiple myeloma precursor condition known as monoclonal gammopathy of undetermined significance (MGUS) or smoldering myeloma may be at risk for progression to...

Prostate Cancer
Genomics/Genetics

Mutations in CTCs May Predict Clinical Outcomes in Patients With Metastatic Castration-Resistant Prostate Cancer

Various genetic alterations in circulating tumor cells (CTCs) were associated with clinical outcomes and resistance to hormone therapy in patients with metastatic castration-resistant prostate cancer, according to research published by Gupta et al in Molecular Cancer Research. Although only a...

Lung Cancer
Genomics/Genetics

Analysis Identifies Frequency of PI3K Pathway Alterations in Patients With NSCLC

A retrospective analysis of patients with non–small cell lung cancer (NSCLC) identified potentially targetable alterations in the PI3K pathway that were not mutually exclusive to mutations in other pathways, according to findings presented by Lage et al during the European Lung Cancer Virtual...

Hepatobiliary Cancer
Genomics/Genetics

In Cholangiocarcinoma, Does Chemotherapy Response Vary According to FGFR2 Status?

With inhibitors of fibroblast growth factor receptor 2 (FGFR2) fusion and other genetic alterations now in clinical trials for cholangiocarcinoma, there is interest in better understanding what FGFR2 genetic alterations mean for patients. In particular, little is known about the effects of FGFR2...

Lung Cancer
Genomics/Genetics

Adagrasib for Patients With Advanced KRAS G12C–Mutated NSCLC

Treatment with the KRAS G12C inhibitor adagrasib showed clinical activity in patients with advanced non–small cell lung cancer (NSCLC) harboring a KRAS G12C mutation, confirming its role as a therapeutic target. Results from the KRYSTAL-1 trial were reported at the European Lung Cancer Virtual...

Breast Cancer
Genomics/Genetics

Breast Cancer Susceptibility Genes: Putting the Pieces Together

With the widespread use of multigene panels for germline genetic testing, understanding the cancer risks associated with pathogenic or likely pathogenic variants (ie, mutations) has become increasingly necessary. To identify which genes are breast cancer susceptibility genes, population studies...

Breast Cancer
Genomics/Genetics

U.S. Population–Based Study of Prevalence of and Risk Associated With Breast Cancer–Predisposition Genes

In a U.S. population–based, case-control study reported in The New England Journal of Medicine, Chunling Hu, MD, PhD, of the Mayo Clinic, Rochester, Minnesota, and colleagues identified the prevalence of and breast cancer risk associated with germline pathogenic variants in established and...

Pancreatic Cancer
Genomics/Genetics

Olaparib for Previously Treated Patients With Pancreatic Cancer and DDR Genetic Alterations Other Than BRCA Variants

Combined results of two parallel phase II studies reported in JAMA Oncology by Milind Javle, MD, and colleagues indicated that olaparib may have therapeutic value in previously treated patients with platinum-sensitive pancreatic ductal carcinoma with DNA damage repair (DDR) genetic alterations...

gynecologic cancers
genomics/genetics

Sandro Pignata, MD, PhD, on BRCA-Mutated Ovarian Cancer: Maintenance Olaparib Outcomes

Sandro Pignata, MD, PhD, of the Istituto Nazionale dei Tumori, discusses results from the ORZORA trial, which showed the efficacy of olaparib in patients with platinum-sensitive relapsed ovarian cancer is similar, whether they have a germline or somatic BRCA mutation. This information could prove useful for clinical practice (ID #10226).

Colorectal Cancer
Genomics/Genetics

KRAS Mutation Status May Predict Outcomes After Hepatic Arterial Infusion Pump Therapy for Unresectable Colorectal Liver Metastases

KRAS mutational status in patients with unresectable liver metastases from colorectal cancer predicts a worse response to hepatic arterial infusion (HAI) pump chemotherapy, according to research presented by Kolbeinsson et al at the Society of Surgical Oncology 2021 International Conference on...

gynecologic cancers
genomics/genetics
immunotherapy

Charles N. Landen, MD, on Newly Diagnosed Ovarian Cancer: BRCA Mutations, PD-L1 Expression, and Combination Chemoimmunotherapy

Charles N. Landen, MD, of the University of Virginia, discusses results from the first clinical trial in ovarian cancer to demonstrate that neither a BRCA1/2 mutation nor a homologous recombination deficiency improves sensitivity to a therapeutic PD-L1 blockade in patients receiving atezolizumab vs placebo combined with carboplatin, paclitaxel, and bevacizumab for newly diagnosed disease (ID #10240).

gynecologic cancers
genomics/genetics

William H. Bradley, MD, on Ovarian Cancer: 5-Year Follow-up on Maintenance Olaparib

William H. Bradley, MD, of the Medical College of Wisconsin, discusses results from the SOLO-1 trial on maintenance olaparib after first-line platinum-based chemotherapy for patients with newly diagnosed advanced ovarian cancer and a BRCA mutation. Almost half of the patients treated with olaparib in the study were disease-free at 5 years, vs 20% of those treated with placebo (ID# 10224).

Gynecologic Cancers
Genomics/Genetics

PARP Inhibition Shows Efficacy in Ovarian Cancer Regardless of Number of Prior Lines of Chemotherapy, BRCA Mutation Status

Treatment with olaparib is safe and effective for patients with platinum-sensitive relapsed ovarian cancer, regardless of the number of prior lines of chemotherapy received and BRCA mutation status, according to data presented from the phase II LIGHT study by Karen A. Cadoo, MD, at the Society of...

Leukemia
Myelodysplastic Syndromes
Genomics/Genetics

Whole-Genome Sequencing vs Cytogenetic Analysis in Myeloid Cancers

In a study reported in The New England Journal of Medicine, Duncavage et al found that whole-genome sequencing in patients with acute myeloid leukemia (AML) or myelodysplastic syndromes (MDS) provided rapid genomic profiling that improved diagnostic yield vs conventional cytogenetic analysis, as...

Immunotherapy
Genomics/Genetics

High Tumor Mutational Burden Predicts Immunotherapy Response in Some—but Not All—Cancers

High tumor mutational burden (TMB) was useful for predicting clinical responses to immune checkpoint inhibitors only in a subset of cancer types, according to a study published by McGrail et al in Annals of Oncology. The findings suggest that TMB status may not be reliably used as a universal...

Pancreatic Cancer
Genomics/Genetics
Immunotherapy

Lowering KRAS Activity May Lead to Improved Therapy Response in Pancreatic Cancer

If clinicians could stop mutations of the KRAS gene—which are present in more than 90% of pancreatic cancer cases and drastically reduce the response to immunotherapy—the chances of improving treatment for the disease would be increased. A collaborative study published by Ischenko et al in Nature...

Hepatobiliary Cancer
Genomics/Genetics

In Cholangiocarcinoma, Does Chemotherapy Response Vary According to FGFR2 Status?

With inhibitors of fibroblast growth factor receptor 2 (FGFR2) fusion and other genetic alterations now in clinical trials for cholangiocarcinoma, there is interest in better understanding what FGFR2 genetic alterations mean for patients. In particular, little is known about the effects of FGFR2...

Hepatobiliary Cancer
Genomics/Genetics

Oncologist Survey Identifies Knowledge Gaps in Cholangiocarcinoma Mutations

In the treatment of cholangiocarcinoma, many clinicians may be unaware of the importance of the major oncogenic mutations and other alterations that can be identified and targeted, according to a survey of oncologists presented at the 2021 Gastrointestinal Cancers Symposium.1 “Recent developments...

Leukemia
Myelodysplastic Syndromes
Genomics/Genetics

Eprenetapopt Plus Azacitidine in TP53-Mutated MDS and AML

In a Groupe Francophone des Myélodysplasies phase II study reported in the Journal of Clinical Oncology, Cluzeau et al found that the combination of eprenetapopt and azacitidine produced high response rates in previously untreated patients with high-risk TP53-mutated myelodysplastic syndromes (MDS) ...

Breast Cancer
Genomics/Genetics

Salpingo-Oophorectomy to Reduce Ovarian Cancer Risk in Women With BRCA1 or BRCA2 Pathogenic Variants May Also Reduce Breast Cancer Risk

In a study reported in JAMA Oncology, Choi et al found that risk-reducing salpingo-oophorectomy in women with BRCA1 or BRCA2 pathogenic variants was associated with a reduced risk of breast cancer within 5 years after surgery, with evidence of longer-term risk reduction among those with BRCA1...

Solid Tumors
Immunotherapy
Genomics/Genetics

Responses to Anti–PD-1/PD-L1 Immunotherapy in Patients With MSS Solid Tumors and High Tumor Mutational Burden

In a single-institution study reported in JAMA Oncology, Valero et al found that response rates to anti–PD-1 or anti–PD-L1 treatments in patients with microsatellite-stable (MSS) solid tumors were generally higher among those with high tumor mutational burden (TMB) defined as ≥ 10...

Breast Cancer
Gynecologic Cancers
Genomics/Genetics

Trends in Germline Genetic Testing in Women Diagnosed With Breast or Ovarian Cancer

In a study of germline genetic testing in women diagnosed with breast or ovarian cancer reported in the Journal of Clinical Oncology, Allison W. Kurian, MD, MSc, and colleagues found that undertesting persists in patients with ovarian cancer, and that most pathogenic variants are found in 20 breast ...

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