ArticlePloS one2009
Oncogene mutations, copy number gains and mutant allele specific imbalance (MASI) frequently occur together in tumor cells.
Article in PloS one, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 123 papers, 3 of them syntheses that pooled it.
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Who cites it
123 citing papers in PubMed, 3 syntheses or guidelines pooled it, 224 citations in OpenAlex.
- CDKN2A/p16 inactivation mechanisms and their relationship to smoke exposure and molecular features in non-small-cell lung cancer.Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer · 2013Pooled it
- Molecular testing guideline for selection of lung cancer patients for EGFR and ALK tyrosine kinase inhibitors: guideline from the College of American Pathologists, International Association for the Study of Lung Cancer, and Association for Molecular Pathology.Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer · 2013Guideline
- Molecular testing guideline for selection of lung cancer patients for EGFR and ALK tyrosine kinase inhibitors: guideline from the College of American Pathologists, International Association for the Study of Lung Cancer, and Association for Molecular Pathology.Archives of pathology & laboratory medicine · 2013Guideline
- Widespread Epistasis between Cancer Driver Mutations and Allele-Specific Copy Number Variations.bioRxiv : the preprint server for biology · 2025Article
- Papillary thyroid carcinoma: morphological features and association with normalized BRAFV600E allelic frequency; clonality and morphology investigating mutations through microscopy.Thyroid research · 2025Article
- Association of the expression of 5-FU biomarkers with aging and prognosis in elderly patients with lung cancer treated with S-1 adjuvant chemotherapy: Follow-up results of the Setouchi Lung Cancer Group Study 1201.Molecular and clinical oncology · 2025Article
- Osimertinib for EGFR-Mutant NSCLC Patients With Acquired T790M and EGFR Amplification After First-Generation EGFR-TKI Resistance.Cancer science · 2025Article
- Molecular characterisation of KRAS mutations in non-small cell lung cancer across all stages.Ecancermedicalscience · 2025Article
- Review
- Douyin and Bilibili as sources of information on lung cancer in China through assessment and analysis of the content and quality.Scientific reports · 2024Article
- Integrative genomics identifies SHPRH as a tumor suppressor gene in lung adenocarcinoma that regulates DNA damage response.British journal of cancer · 2024Article
- Transformation of immunosuppressive mtKRAS tumors into immunostimulatory tumors by Nerofe and Doxorubicin.Oncotarget · 2023Article
- Effect of EGFR amplification on the prognosis of EGFR-mutated advanced non-small-cell lung cancer patients: a prospective observational study.BMC cancer · 2022Observational
- Proliferation and Self-Renewal Are Differentially Sensitive to NRASG12V Oncogene Levels in an Acute Myeloid Leukemia Cell Line.Molecular cancer research : MCR · 2022Article
- Targeting KRAS in PDAC: A New Way to Cure It?Cancers · 2022Review
- Circulating tumor DNA sequencing provides comprehensive mutation profiling for pediatric central nervous system tumors.NPJ precision oncology · 2022Article
- Molecular Biology and Therapeutic Perspectives for K-Ras Mutant Non-Small Cell Lung Cancers.Cancers · 2022Review
- Allelic expression imbalance of PIK3CA mutations is frequent in breast cancer and prognostically significant.NPJ breast cancer · 2022Article
- Direct TargetingCancers · 2022Review
- Case report: A case report and literature review about Pathological transformation of lung adenosquamous cell carcinoma.Frontiers in oncology · 2022Article
63 more citing papers are in PubMed but not listed here.
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Authors and funding
19 authors at 6 institutions in 4 countries.
Funding
Abstract
backgroundActivating mutations in one allele of an oncogene (heterozygous mutations) are widely believed to be sufficient for tumorigenesis. However, mutant allele specific imbalance (MASI) has been observed in tumors and cell lines harboring mutations of oncogenes. METHODOLOGY/PRINCIPAL
findingsWe determined 1) mutational status, 2) copy number gains (CNGs) and 3) relative ratio between mutant and wild type alleles of KRAS, BRAF, PIK3CA and EGFR genes by direct sequencing and quantitative PCR assay in over 400 human tumors, cell lines, and xenografts of lung, colorectal, and pancreatic cancers. Examination of a public database indicated that homozygous mutations of five oncogenes were frequent (20%) in 833 cell lines of 12 tumor types. Our data indicated two major forms of MASI: 1) MASI with CNG, either complete or partial; and 2) MASI without CNG (uniparental disomy; UPD), due to complete loss of wild type allele. MASI was a frequent event in mutant EGFR (75%) and was due mainly to CNGs, while MASI, also frequent in mutant KRAS (58%), was mainly due to UPD. Mutant: wild type allelic ratios at the genomic level were precisely maintained after transcription. KRAS mutations or CNGs were significantly associated with increased ras GTPase activity, as measured by ELISA, and the two molecular changes were synergistic. Of 237 lung adenocarcinoma tumors, the small number with both KRAS mutation and CNG were associated with shortened survival.
conclusionsMASI is frequently present in mutant EGFR and KRAS tumor cells, and is associated with increased mutant allele transcription and gene activity. The frequent finding of mutations, CNGs and MASI occurring together in tumor cells indicates that these three genetic alterations, acting together, may have a greater role in the development or maintenance of the malignant phenotype than any individual alteration.
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