Gene Mutations

Some Gene Variants Increase the Risk for Melanoma in People With Red Hair, Freckling

Some Gene Variants Increase the Risk for Melanoma in People With Red Hair, Freckling

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Variants of the MC1R gene, associated with red hair, pale skin, and freckles, increases the number of genetic mutations related to skin cancer and the level of other gene mutations, further increasing the risk for skin cancer.

Rare Mutations in Immune-Related Genes Linked to Multiple Simultaneous Colorectal Cancer Tumors

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Genetic mutations affecting the immune system were identified in patients who develop more than one CRC tumor at the same time, and understanding how these cancers develop could improve therapy targeting.

Genetic Picture of Colorectal Cancer Expanded

Genetic Picture of Colorectal Cancer Expanded

Researchers say it's likely that all the major genetic mutations related to colorectal cancer have been discovered.

Research Shows Potential for Breast Cancer Prevention in BRCA1-Driven Tumors

Research Shows Potential for Breast Cancer Prevention in BRCA1-Driven Tumors

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The drug denosumab, which blocks a bone gene, may also prevent breast cancer caused by a BRCA1 mutation. This already approved drug could be available quickly, and would be the first drug for breast cancer prevention.

Dabrafenib Plus Trametinib Continue to Show Survival Benefit in BRAF-mutant Metastatic Melanoma

Dabrafenib Plus Trametinib Continue to Show Survival Benefit in BRAF-mutant Metastatic Melanoma

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The longest overall survival follow-up among randomized phase 3 trials evaluating BRAF and MEK inhibitors in patients with BRAF-mutant metastatic melanoma to date has shown the best 3-year outcome with dabrafenib plus trametinib to be in patients with normal LDH and fewer than 3 disease sites, according to a presentation at the ASCO 2016 Annual Meeting.

Binimetinib: New Treatment Option for NRAS-Mutant Cutaneous Melanoma Before/After Immunotherapy?

Binimetinib: New Treatment Option for NRAS-Mutant Cutaneous Melanoma Before/After Immunotherapy?

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Binimetinib may represent a new effective therapy for patients with NRAS-mutant melanoma, both before and after immunotherapy. That is the conclusion of the phase 3 NEMO study, results of which were presented at the ASCO 2016 Annual Meeting.

Palbociclib Plus Fulvestrant Provides Significant Benefit in Hormone Receptor-Positive Metastatic Breast Cancer

Palbociclib Plus Fulvestrant Provides Significant Benefit in Hormone Receptor-Positive Metastatic Breast Cancer

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ESR1 mutations detected in plasma circulating tumor DNA were identified in a high percentage of patients with hormone receptor-positive metastatic breast cancer, confirming an important role in endocrine resistance, according to an analysis of data from the phase 3 PALOMA-3 reported at the 2016 ASCO Annual Meeting.

ESR1 Mutations Predict Worse Outcome in HR-positive Metastatic Breast Cancer Treated with Aromatase Inhibitors

ESR1 Mutations Predict Worse Outcome in HR-positive Metastatic Breast Cancer Treated with Aromatase Inhibitors

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The presence of circulating ESR1 somatic mutations at disease progression in patients with HR-positive metastatic breast cancer treated with first-line AIs represent a strong and independent poor prognostic value for overall survival but no predictive value, a study presented at the 2016 ASCO Annual Meeting has found.

Liquid Biopsy Found Comparable to Standard Tissue Biopsy in Identifying BRAF V600 Mutation Status

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Plasma from a blood draw can be used to test for BRAF V600 mutations in advanced cancers in just 90 minutes, and results were comparable to using tissue biopsy.

Consensus Statement Guides Optimal Management of EGFR-Mutation-Positive NSCLC

Consensus Statement Guides Optimal Management of EGFR-Mutation-Positive NSCLC

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The 2016 consensus statement from the International Association for the Study of Lung Cancer (IASLC) describes how to best manage EGFR-mutation-positive NSCLC.

BRCA1/2 Testing Recommendations Vary Between Black and White Patients

BRCA1/2 Testing Recommendations Vary Between Black and White Patients

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Disparities in BRCA1/2 testing in black and white women is attributable to differences in physician recommendations, according to a recent study.

Progression-free and Overall Survival Better With Mutations Affecting DNA Repair Genes in Ovarian Cancer

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Women with advanced ovarian cancer who had mutations affecting DNA repair genes had longer progression-free and overall survival than women without the mutations.

Newly Identified Gene Mutation Predominant in Chinese With a Family History of Breast Cancer

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Germline mutations to the RECQL gene were identified in 0.5% of patients with familial breast cancer in a Chinese population.

Smoking Status Affects Presents of Unique Molecular Signatures in HPV-positive Throat Cancers

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A pattern of mutations across several key cancer genes was found in patients with throat cancer who were exposed to both human papillomavirus (HPV) and tobacco smoke.

Nine Additional Inherited Gene Mutations Are Linked to Ovarian Cancer

Nine Additional Inherited Gene Mutations Are Linked to Ovarian Cancer

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Among 1915 patients with ovarian cancer, almost 1 in 5 had inherited mutations in genes associated with risk of ovarian cancer. Furthermore, a total of 11 genes are now suspected of causing hereditary ovarian cancer.

HER2-associated Lung Cancer: Mutations and Amplifications Result in Different Cancers

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Two distinct causes of HER2 activation in lung cancer were demonstrated in a recent study. These findings imply that HER2-positive lung cancer may need different targeted therapies to combat these related but possibly distinct diseases.

Additional Genes Linked With Ovarian Cancer Risk Identified

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The researchers found that nearly one fifth of women with ovarian cancer carried mutations in genes that were associated with ovarian cancer risk beyond the BRCA1 and BRCA2 genes.

Drug Resistance Became Tumor Resensitization in a Unique Case of a Patient With Lung Cancer

Drug Resistance Became Tumor Resensitization in a Unique Case of a Patient With Lung Cancer

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The evolution of drug resistance in a patient with lung cancer was demonstrated in a recent case. In the case, molecular analysis of a metastatic lesion revealed resistance to a third targeted therapy; however, the new mutation restored tumor response to the first targeted therapy used.

Children With Cancer May Have Genetic Predisposition Even Without a Family History of Disease

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Comprehensive genomic screening may be warranted for all pediatric patients with cancer, not just those with a family history of cancer, according to results of a detailed analysis of germline mutations in cancer predisposition genes.

Leukemic Mutations Create 'Therapeutic Window' for Spliceosome Modulators

Leukemic Mutations Create 'Therapeutic Window' for Spliceosome Modulators

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Spliceosomal-mutant leukemias displayed greater sensitivity to pharmacologic modulation of splicing than their wildtype counterparts.

Rare Mutation May Extend Survival in Lung Cancer Patients With Brain Metastases

Rare Mutation May Extend Survival in Lung Cancer Patients With Brain Metastases

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Most patients with NSCLC that has metastasized to the brain have a dire prognosis. However, researchers have identified a subset of those patients who have a rare genetic mutation and are living significantly longer than patients without the mutation.

Researchers Find Correlation Between Gene Mutations and Tumor Microbiome in Colorectal Cancer

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By analyzing the types of gut bacteria present around colorectal tumors, researchers have found a way to predict key genetic mutations in the tumors themselves, a method that could eventually inform the development of colorectal cancer diagnostics and therapeutics.

Newly Identified Gene Mutations May Expand Indications for Existing Targeted Cancer Treatments

Newly Identified Gene Mutations May Expand Indications for Existing Targeted Cancer Treatments

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Researchers identified two new cancer-causing gene mutations that could lead to more targeted and effective treatments for certain lung and prostate cancers.

Telomerase-targeting drug demonstrates benefit in myelofibrosis treatment

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Imetelstat, a novel drug that targets telomerase, has demonstrated potential value in treating patients with myelofibrosis, according to the results of a new study.

AGA guidelines recommend testing for Lynch syndrome in all patients with colorectal cancer

AGA guidelines recommend testing for Lynch syndrome in all patients with colorectal cancer

A newly published AGA guideline for colorectal cancer (CRC) recommends all patients with a new diagnosis of CRC undergo testing for Lynch syndrome.

Genetic mutations identified during remission of leukemia may help predict risk of relapse, survival

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Even though potentially curative therapy is now available for many patients with AML, the therapy is expensive and is associated with significant side effects. This study explained that identifying patients at high risk for relapse would be helpful clinically.

Multigene panel tests may identify less common harmful mutations in moderate-risk genes

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Multigene testing of women negative for BRCA1 and BRCA2 uncovered other harmful genetic mutations.

<i>RAD51</i> mutations confer moderate ovarian cancer risk

RAD51 mutations confer moderate ovarian cancer risk

RAD51C and RAD51D deleterious mutations have been linked to increased risk of epithelial ovarian cancer.

Research breakthrough identifies how mutated genes reprogram blood stem cells in leukemia

Research breakthrough identifies how mutated genes reprogram blood stem cells in leukemia

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You research has shed light on the process by which mutated genes in leukemia reprogram blood stem cells and send them spiraling out of control.

Proportion of different genetic mutations quantified in individual colorectal cancers

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Researchers have quantified the mutational profiles for cell clusters in individual colorectal cancer tumors that have metastasized.

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