Variant: rs113488022 

    present in Gene: BRAF
    present in Chromosome: 7
    Position on Chromosome: 140753336
    Alleles of this Variant: A/C;G;T

rs113488022 in BRAF gene and Adenocarcinoma of lung (disorder) PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs113488022 in BRAF gene and Arteriovenous Malformations, Cerebral PMID 31891627 2019 Somatic mutations in intracranial arteriovenous malformations.

rs113488022 in BRAF gene and Brain Neoplasms PMID 22586120 2012 Cooperative interactions of BRAFV600E kinase and CDKN2A locus deficiency in pediatric malignant astrocytoma as a basis for rational therapy.

PMID 22038996 2011 Targeted therapy for BRAFV600E malignant astrocytoma.

PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs113488022 in BRAF gene and Brain Stem Glioma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs113488022 in BRAF gene and Carcinoma of lung PMID 22773810 2012 Lung cancers with acquired resistance to EGFR inhibitors occasionally harbor BRAF gene mutations but lack mutations in KRAS, NRAS, or MEK1.

PMID 12460918 2002 BRAF and RAS mutations in human lung cancer and melanoma.

PMID 22743296 2012 A patient with BRAF V600E lung adenocarcinoma responding to vemurafenib.

PMID 23524406 2013 Molecular characterization of acquired resistance to the BRAF inhibitor dabrafenib in a patient with BRAF-mutant non-small-cell lung cancer.

PMID 12068308 2002 Mutations of the BRAF gene in human cancer.

PMID 22649091 2012 Kinase-impaired BRAF mutations in lung cancer confer sensitivity to dasatinib.

PMID 23833300 2013 Clinical, pathologic, and biologic features associated with BRAF mutations in non-small cell lung cancer.

PMID 19010912 2008 Genetic predictors of MEK dependence in non-small cell lung cancer.

PMID 21483012 2011 The incidence of BRAF mutations other than V600E is significantly higher in lung cancer than in melanoma.

PMID 12460919 2002 Missense mutations of the BRAF gene in human lung adenocarcinoma.

PMID 22608338 2012 Dabrafenib in patients with melanoma, untreated brain metastases, and other solid tumours: a phase 1 dose-escalation trial.

PMID 19238210 2009 Alterations in genes of the EGFR signaling pathway and their relationship to EGFR tyrosine kinase inhibitor sensitivity in lung cancer cell lines.

rs113488022 in BRAF gene and Colonic Neoplasms PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

PMID 22281684 2012 To investigate the cause of the limited therapeutic effect of PLX4032 in BRAF(V600E) mutant colon tumours, here we performed an RNA-interference-based genetic screen in human cells to search for kinases whose knockdown synergizes with BRAF(V600E) inhibition.

rs113488022 in BRAF gene and Colorectal Carcinoma PMID 25373533 2015 Updated guidelines for biomarker testing in colorectal carcinoma: a national consensus of the Spanish Society of Pathology and the Spanish Society of Medical Oncology.

PMID 23852704 2014 Tumor markers in colorectal cancer, gastric cancer and gastrointestinal stromal cancers: European group on tumor markers 2014 guidelines update.

PMID 23012255 2012 ESMO Consensus Guidelines for management of patients with colon and rectal cancer. a personalized approach to clinical decision making.

PMID 24996433 2014 RAS testing of colorectal carcinoma—a guidance document from the Association of Clinical Pathologists Molecular Pathology and Diagnostics Group.

PMID 23429431 2013 Recommendations from the EGAPP Working Group: can testing of tumor tissue for mutations in EGFR pathway downstream effector genes in patients with metastatic colorectal cancer improve health outcomes by guiding decisions regarding anti-EGFR therapy?

PMID 25006736 2014 Multitarget stool DNA testing for colorectal-cancer screening.

PMID 17060676 2006 ASCO 2006 update of recommendations for the use of tumor markers in gastrointestinal cancer.

PMID 22138009 2011 NCCN Task Force report: Evaluating the clinical utility of tumor markers in oncology.

PMID 19042984 2008 National Academy of Clinical Biochemistry laboratory medicine practice guidelines for use of tumor markers in testicular, prostate, colorectal, breast, and ovarian cancers.

PMID 22855150 2012 Guidelines for biomarker testing in colorectal carcinoma (CRC): a national consensus of the Spanish Society of Pathology (SEAP) and the Spanish Society of Medical Oncology (SEOM).

rs113488022 in BRAF gene and Colorectal Neoplasms PMID 12068308 2002 Mutations of the BRAF gene in human cancer.

PMID 23251002 2013 Resistance to BRAF inhibition in BRAF-mutant colon cancer can be overcome with PI3K inhibition or demethylating agents.

PMID 23549875 2013 Concomitant BRAF and PI3K/mTOR blockade is required for effective treatment of BRAF(V600E) colorectal cancer.

PMID 19001320 2008 Wild-type BRAF is required for response to panitumumab or cetuximab in metastatic colorectal cancer.

PMID 20413299 2010 Markers for EGFR pathway activation as predictor of outcome in metastatic colorectal cancer patients treated with or without cetuximab.

PMID 20857202 2011 BRAF V600E mutation and resistance to anti-EGFR monoclonal antibodies in patients with metastatic colorectal cancer: a meta-analysis.

PMID 22448344 2012 EGFR-mediated re-activation of MAPK signaling contributes to insensitivity of BRAF mutant colorectal cancers to RAF inhibition with vemurafenib.

PMID 21426297 2011 BRAF as a target for cancer therapy.

PMID 22608338 2012 Dabrafenib in patients with melanoma, untreated brain metastases, and other solid tumours: a phase 1 dose-escalation trial.

PMID 20350999 2010 Prognostic and predictive biomarkers in resected colon cancer: current status and future perspectives for integrating genomics into biomarker discovery.

PMID 21129611 2010 Prognostic vs predictive molecular biomarkers in colorectal cancer: is KRAS and BRAF wild type status required for anti-EGFR therapy?

PMID 23845441 2013 A genetic progression model of Braf(V600E)-induced intestinal tumorigenesis reveals targets for therapeutic intervention.

PMID 23325582 2013 Massively parallel tumor multigene sequencing to evaluate response to panitumumab in a randomized phase III study of metastatic colorectal cancer.

PMID 22180495 2012 Antitumor activity of BRAF inhibitor vemurafenib in preclinical models of BRAF-mutant colorectal cancer.

PMID 23812671 2013 Vemurafenib synergizes with nutlin-3 to deplete survivin and suppresses melanoma viability and tumor growth.

PMID 24107445 2013 Our findings indicated that proteasome inhibition might represent a valuable targeting strategy in BRAF V600E-mutant colorectal tumors.

PMID 21163703 2011 KRAS, BRAF, PIK3CA, and PTEN mutations: implications for targeted therapies in metastatic colorectal cancer.

PMID 24163374 2014 mTOR inhibition specifically sensitizes colorectal cancers with KRAS or BRAF mutations to BCL-2/BCL-XL inhibition by suppressing MCL-1.

PMID 22281684 2012 Unresponsiveness of colon cancer to BRAF(V600E) inhibition through feedback activation of EGFR.

PMID 20619739 2010 Effects of KRAS, BRAF, NRAS, and PIK3CA mutations on the efficacy of cetuximab plus chemotherapy in chemotherapy-refractory metastatic colorectal cancer: a retrospective consortium analysis.

PMID 19537845 2009 Clinical biomarkers in oncology: focus on colorectal cancer.

PMID 25989278 2015 Meta-analysis of BRAF mutation as a predictive biomarker of benefit from anti-EGFR monoclonal antibody therapy for RAS wild-type metastatic colorectal cancer.

PMID 24594804 2014 BRAFV600E mutation and its association with clinicopathological features of colorectal cancer: a systematic review and meta-analysis.

PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs113488022 in BRAF gene and Cutaneous Melanoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs113488022 in BRAF gene and Gastrointestinal Stromal Tumors PMID 20818844 2010 Inhibition of mutated, activated BRAF in metastatic melanoma.

PMID 21639808 2011 Improved survival with vemurafenib in melanoma with BRAF V600E mutation.

PMID 23470635 2013 We report prolonged antitumor activity in the first patient with V600E BRAF-mutated GIST who was treated with a BRAF inhibitor.

PMID 12068308 2002 Mutations of the BRAF gene in human cancer.

PMID 22608338 2012 Dabrafenib in patients with melanoma, untreated brain metastases, and other solid tumours: a phase 1 dose-escalation trial.

PMID 19561230 2009 BRAF mutations (V600E) were detected in 2 of 28 wild-type GISTs (7%), but in none of the 41 KIT/PDGFRA mutants.No KRAS mutation was detected.

rs113488022 in BRAF gene and Glioblastoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs113488022 in BRAF gene and Multiple Myeloma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs113488022 in BRAF gene and Neoplasms PMID 15035987 2004 Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF.

rs113488022 in BRAF gene and Non-Small Cell Lung Carcinoma PMID 12068308 2002 Mutations of the BRAF gene in human cancer.

rs113488022 in BRAF gene and Papillary renal cell carcinoma, sporadic PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs113488022 in BRAF gene and Squamous cell carcinoma of the head and neck PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs113488022 in BRAF gene and melanoma PMID 21639808 2011 Vemurafenib produced improved rates of overall and progression-free survival in patients with previously untreated melanoma with the BRAF V600E mutation.

PMID 22048237 2012 Phase II, open-label, randomized trial of the MEK1/2 inhibitor selumetinib as monotherapy versus temozolomide in patients with advanced melanoma.

PMID 22389471 2012 To identify determinants of acquired resistance to GSK2118436 and strategies to overcome the resistance, we isolated GSK2118436 drug-resistant clones from the A375 BRAF(V600E) and the YUSIT1 BRAF(V600K) melanoma cell lines.

PMID 19404918 2009 Mutational analysis of the BRAF gene in transitional cell carcinoma of the bladder.

PMID 20818844 2010 In the dose-escalation cohort, among the 16 patients with melanoma whose tumors carried the V600E BRAF mutation and who were receiving 240 mg or more of PLX4032 twice daily, 10 had a partial response and 1 had a complete response.

PMID 22536370 2012 Routine multiplex mutational profiling of melanomas enables enrollment in genotype-driven therapeutic trials.

PMID 21156289 2010 Acquired resistance to BRAF inhibitors mediated by a RAF kinase switch in melanoma can be overcome by cotargeting MEK and IGF-1R/PI3K.

PMID 12068308 2002 Mutations of the BRAF gene in human cancer.

PMID 14679157 2003 Determinants of BRAF mutations in primary melanomas.

PMID 23020132 2012 Combined BRAF and MEK inhibition in melanoma with BRAF V600 mutations.

PMID 23918947 2013 Phase II trial (BREAK-2) of the BRAF inhibitor dabrafenib (GSK2118436) in patients with metastatic melanoma.

PMID 20630094 2010 Incidence of the V600K mutation among melanoma patients with BRAF mutations, and potential therapeutic response to the specific BRAF inhibitor PLX4032.

PMID 23031422 2012 Overwhelming response to Dabrafenib in a patient with double BRAF mutation (V600E; V600M) metastatic malignant melanoma.

PMID 24508103 2014 Safety and efficacy of vemurafenib in BRAF(V600E) and BRAF(V600K) mutation-positive melanoma (BRIM-3): extended follow-up of a phase 3, randomised, open-label study.

PMID 22351686 2012 The HSP90 inhibitor XL888 overcomes BRAF inhibitor resistance mediated through diverse mechanisms.

PMID 22972589 2013 Clinical responses to selumetinib (AZD6244; ARRY-142886)-based combination therapy stratified by gene mutations in patients with metastatic melanoma.

PMID 22805292 2012 Activity of the oral MEK inhibitor trametinib in patients with advanced melanoma: a phase 1 dose-escalation trial.

PMID 22608338 2012 Efficacy at the recommended phase 2 dose was studied in patients with BRAF-mutant tumours, including those with non-Val600Glu mutations, in three cohorts: metastatic melanoma, melanoma with untreated brain metastases, and non-melanoma solid tumours.

PMID 22997239 2012 Here, CDK2/4 inhibition statistically significantly augmented the effects of BRAF(V600E)- or MEK-inhibitors on melanoma cell viability in vitro and growth in athymic nude Foxn1 ( nu ) mice (P = .03 when mean tumor volume at day 13 was compared for BRAF(V600E) inhibitor vs BRAF(V600E) inhibitor plus CDK2/4 inhibition; P = .02 when mean tumor volume was compared for MEK inhibitor vs MEK inhibitor plus CDK2/4 inhibition; P values were calculated by a two-sided Welch t test; n = 4-8 mice per group).

PMID 22356324 2012 Survival in BRAF V600-mutant advanced melanoma treated with vemurafenib.

PMID 24586605 2014 BRAF-V600 mutations have no prognostic impact in stage IV melanoma patients treated with monochemotherapy.

PMID 26678033 2016 Primary cross-resistance to BRAFV600E-, MEK1/2- and PI3K/mTOR-specific inhibitors in BRAF-mutant melanoma cells counteracted by dual pathway blockade.

PMID 25370471 2015 A patient with V600E BRAF-mutant melanoma and another with platinum-refractory epithelial ovarian cancer exhibiting PTEN loss and PIK3CA amplification demonstrated partial response by RECIST and GCIG-CA125 criteria, respectively.

PMID 22735384 2012 Patients aged 18 years or older with previously untreated, stage IV or unresectable stage III BRAF(V600E) mutation-positive melanoma were randomly assigned (3:1) to receive dabrafenib (150 mg twice daily, orally) or dacarbazine (1000 mg/m(2) intravenously every 3 weeks).

PMID 23614898 2013 Discovery of a novel ERK inhibitor with activity in models of acquired resistance to BRAF and MEK inhibitors.

PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

PMID 24583796 2014 Dabrafenib and trametinib, alone and in combination for BRAF-mutant metastatic melanoma.

PMID 22663011 2012 Improved survival with MEK inhibition in BRAF-mutated melanoma.

PMID 24576830 2014 Loss of NF1 in cutaneous melanoma is associated with RAS activation and MEK dependence.

PMID 24388723 2014 Prognostic value of BRAF mutations in localized cutaneous melanoma.

rs113488022 in BRAF gene and ovarian neoplasm PMID 21639808 2011 Improved survival with vemurafenib in melanoma with BRAF V600E mutation.

PMID 22608338 2012 Dabrafenib in patients with melanoma, untreated brain metastases, and other solid tumours: a phase 1 dose-escalation trial.

PMID 20818844 2010 Inhibition of mutated, activated BRAF in metastatic melanoma.

PMID 21975775 2011 Epidermal growth factor receptor blockers for the treatment of ovarian cancer.

PMID 21683865 2011 Molecular pathogenesis and extraovarian origin of epithelial ovarian cancer--shifting the paradigm.

PMID 19018267 2008 KRAS or BRAF mutation status is a useful predictor of sensitivity to MEK inhibition in ovarian cancer.

PMID 12068308 2002 Mutations of the BRAF gene in human cancer.