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1. Full Text The impact of smoking and tp53 mutations in lung adenocarcinoma patients with targetable mutations—the lung cancer mutation consortium (LCMC2)
by Aisner, Dara L and Sholl, Lynette M and Berry, Lynne D and Rossi, Michael R and Chen, Heidi and Fujimoto, Junya and Moreira, Andre L and Ramalingam, Suresh S and Villaruz, Liza C and Otterson, Gregory A and Haura, Eric and Politi, Katerina and Glisson, Bonnie and Cetnar, Jeremy and Garon, Edward B and Schiller, Joan and Waqar, Saiama N and Sequist, Lecia V and Brahmer, Julie and Shyr, Yu and Kugler, Kelly and Wistuba, Ignacio I and Johnson, Bruce E and Minna, John D and Kris, Mark G and Bunn, Paul A and Kwiatkowski, David J and LCMC2 Investigators and LCMC2 investigators
Clinical cancer research, ISSN 1078-0432, 03/2018, Volume 24, Issue 5, pp. 1038 - 1047
Life Sciences & Biomedicine | Oncology | Science & Technology | Smoking - adverse effects | Lung Neoplasms - drug therapy | Prognosis | Prospective Studies | Lung Neoplasms - mortality | Humans | Middle Aged | Male | Antineoplastic Agents - therapeutic use | Tumor Suppressor Protein p53 - genetics | Young Adult | Adenocarcinoma of Lung - mortality | DNA Mutational Analysis | Adenocarcinoma of Lung - drug therapy | Aged, 80 and over | Adult | Female | Antineoplastic Agents - pharmacology | Biomarkers, Tumor - antagonists & inhibitors | Molecular Targeted Therapy - methods | Lung Neoplasms - genetics | Adenocarcinoma of Lung - etiology | Carcinogenesis - genetics | Treatment Outcome | Smoking - epidemiology | Survival Analysis | Aged | Biomarkers, Tumor - genetics | High-Throughput Nucleotide Sequencing | Mutation | Adenocarcinoma | Therapy | Epidermal growth factor receptors | p53 Protein | Lung cancer | Patients | Survival | ErbB-2 protein | Gene sequencing | Consortia | Alterations | Genotyping | Experimental design | Tumor suppressor genes | Smoking | Cancer | Index Medicus | mutation | TP53 | targetable | EGFR | lung adenocarcinoma
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2. Full Text BRCA Mutation Frequency and Patterns of Treatment Response in BRCA Mutation–Positive Women With Ovarian Cancer: A Report From the Australian Ovarian Cancer Study Group
by Kathryn Alsop and Sian Fereday and Cliff Meldrum and Anna deFazio and Catherine Emmanuel and Joshy George and Alexander Dobrovic and Michael J. Birrer and Penelope M. Webb and Colin Stewart and Michael Friedlander and Stephen Fox and David Bowtell and Gillian Mitchell
Journal of clinical oncology, ISSN 0732-183X, 07/2012, Volume 30, Issue 21, pp. 2654 - 2663
Life Sciences & Biomedicine | Oncology | Science & Technology | Gynecology. Andrology. Obstetrics | Biological and medical sciences | Medical sciences | Tumors | Female genital diseases | Medical History Taking | Recurrence | Prospective Studies | Humans | Middle Aged | Ovarian Neoplasms - pathology | Drug Resistance, Neoplasm | Cystadenocarcinoma, Serous - genetics | Cystadenocarcinoma, Serous - drug therapy | Case-Control Studies | Ovarian Neoplasms - genetics | Peritoneal Neoplasms - drug therapy | Neoplasm Grading | Fallopian Tube Neoplasms - genetics | Aged, 80 and over | Genes, BRCA2 | Germ-Line Mutation | Adult | Female | Genes, BRCA1 | Ovarian Neoplasms - drug therapy | Fallopian Tube Neoplasms - drug therapy | Carcinoma - drug therapy | Carcinoma, Endometrioid - genetics | Kaplan-Meier Estimate | Mutation Rate | Treatment Outcome | Carcinoma, Endometrioid - drug therapy | Australia - epidemiology | Ovarian Neoplasms - epidemiology | Disease-Free Survival | Point Mutation | Breast Neoplasms - genetics | Antineoplastic Combined Chemotherapy Protocols - therapeutic use | Peritoneal Neoplasms - genetics | Carcinoma - genetics | Aged | Platinum Compounds - administration & dosage | Neoplasm Staging | Adenocarcinoma, Clear Cell - genetics | Adenocarcinoma, Clear Cell - drug therapy | Cohort Studies | Index Medicus | Original Reports | Gynecologic Cancer | Gync21 | Gync15
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3. Full Text Genetic epidemiology of BRCA mutations – family history detects less than 50% of the mutation carriers
by Møller, Pål and Hagen, Anne Irene and Apold, Jaran and Maehle, Lovise and Clark, Neal and Fiane, Bent and Løvslett, Kjell and Hovig, Eivind and Vabø, Anita
European journal of cancer (1990), ISSN 0959-8049, 2007, Volume 43, Issue 11, pp. 1713 - 1717
Hematology, Oncology and Palliative Medicine | Founder mutations | Genetic epidemiology | Incident cancers | Breast cancer | BRCA1 | Genetic testing | BRCA2 | Ovarian cancer | Life Sciences & Biomedicine | Oncology | Science & Technology | Biological and medical sciences | Medical sciences | Pharmacology. Drug treatments | Tumors | Genetic Testing | Humans | Middle Aged | Mutation - genetics | Genetic Carrier Screening - methods | Incidence | Ovarian Neoplasms - epidemiology | Ovarian Neoplasms - genetics | Breast Neoplasms - genetics | Pedigree | Norway - epidemiology | Genes, BRCA2 | Adult | Female | Heterozygote | Aged | Genes, BRCA1 | Breast Neoplasms - epidemiology | Genetic research | Genetic aspects | Gene mutations | Epidemiology | Index Medicus
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4. Full Text TP53 germline mutation testing in 180 families suspected of Li–Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes
by Ruijs, Marielle W G and Verhoef, Senno and Rookus, Matti A and Pruntel, Roelof and van der Hout, Annemarie H and Hogervorst, Frans B L and Kluijt, I and Sijmons, Rolf H and Aalfs, Cora M and Wagner, Anja and Ausems, Margreet G E M and Hoogerbrugge, Nicoline and van Asperen, Christi J and Gomez Garcia, Encarna B and Meijers-Heijboer, Hanne and ten Kate, Leo P and Menko, Fred H and van 't Veer, Laura J
Journal of medical genetics, ISSN 0022-2593, 06/2010, Volume 47, Issue 6, pp. 421 - 428
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Colonic Neoplasms - genetics | Pancreatic Neoplasms - diagnosis | Humans | Middle Aged | Colonic Neoplasms - diagnosis | Family Health | Male | Neoplasms - diagnosis | Li-Fraumeni Syndrome - diagnosis | Genetic Testing - methods | Tumor Suppressor Protein p53 - genetics | Young Adult | Li-Fraumeni Syndrome - genetics | Netherlands | Neoplasms - genetics | DNA Mutational Analysis | Germ-Line Mutation | Adult | Female | Genetic Predisposition to Disease | Gene Frequency | Risk Factors | Genotype | Pancreatic Neoplasms - genetics | Phenotype | Gene mutations | DNA | Analysis | Physiological aspects | Genetic aspects | Research | Risk factors | Li-Fraumeni syndrome | Liver cancer | Brain cancer | Pancreatic cancer | Colorectal cancer | Melanoma | Breast cancer | Mutation | Age | Deoxyribonucleic acid--DNA | Tumors | Index Medicus
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5. Full Text Novel D761Y and Common Secondary T790M Mutations in Epidermal Growth Factor Receptor–Mutant Lung Adenocarcinomas with Acquired Resistance to Kinase Inhibitors
by Marissa N. Balak and Yixuan Gong and Gregory J. Riely and Romel Somwar and Allan R. Li and Maureen F. Zakowski and Anne Chiang and Guangli Yang and Ouathek Ouerfelli and Mark G. Kris and Marc Ladanyi and Vincent A. Miller and William Pao
Clinical cancer research, ISSN 1078-0432, 11/2006, Volume 12, Issue 21, pp. 6494 - 6501
tyrosine kinase inhibitor | epidermal growth factor receptor | acquired resistance | lung adenocarcinoma | Life Sciences & Biomedicine | Oncology | Science & Technology | Tumors of the respiratory system and mediastinum | Biological and medical sciences | Medical sciences | Antineoplastic agents | Pharmacology. Drug treatments | Pneumology | Erlotinib Hydrochloride | Lung Neoplasms - genetics | Protein Structure, Tertiary | Amino Acid Sequence | Lung Neoplasms - drug therapy | Receptor, Epidermal Growth Factor - genetics | Humans | Molecular Sequence Data | Receptor, Epidermal Growth Factor - drug effects | Antineoplastic Agents - therapeutic use | Gene Dosage | Reverse Transcriptase Polymerase Chain Reaction | Adenocarcinoma - drug therapy | Receptor, Epidermal Growth Factor - chemistry | Neoplasm Metastasis - genetics | Drug Resistance, Neoplasm - genetics | In Situ Hybridization | DNA Mutational Analysis | Protein Kinase Inhibitors - therapeutic use | Quinazolines - therapeutic use | Adenocarcinoma - genetics | Mutation | Index Medicus
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6. Full Text Nonsense Mutation Correction in Human Diseases
: An Approach for Targeted Medicine
by Lejeune, Fabrice and Benhabiles, Hana and Jia, Jieshuang
2016, ISBN 0128044683, 192
Genetic disorders | Nonsense mutation
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7. Full Text Multi-institutional Oncogenic Driver Mutation Analysis in Lung Adenocarcinoma: The Lung Cancer Mutation Consortium Experience
by Sholl, Lynette M and Aisner, Dara L and Varella-Garcia, Marileila and Berry, Lynne D and Dias-Santagata, Dora and Wistuba, Ignacio I and Chen, Heidi and Fujimoto, Junya and Kugler, Kelly and Franklin, Wilbur A and Iafrate, A. John and Ladanyi, Marc and Kris, Mark G and Johnson, Bruce E and Bunn, Paul A and Minna, John D and Kwiatkowski, David J and LCMC Investigators
Journal of thoracic oncology, ISSN 1556-0864, 05/2015, Volume 10, Issue 5, pp. 768 - 777
FISH | Lung adenocarcinoma | Mutation | Genotyping | LCMC | Respiratory System | Oncology | Life Sciences & Biomedicine | Science & Technology | DNA Mutational Analysis - standards | Humans | Bone Neoplasms - secondary | Lung Neoplasms - pathology | Male | DNA Mutational Analysis - methods | Proto-Oncogene Proteins c-akt - genetics | MAP Kinase Kinase 1 - genetics | Anaplastic Lymphoma Kinase | Adrenal Gland Neoplasms - secondary | Female | Adenocarcinoma - genetics | Bone Neoplasms - genetics | Liver Neoplasms - secondary | Genes, ras - genetics | Lung Neoplasms - genetics | Liver Neoplasms - genetics | Genes, erbB-1 - genetics | Cooperative Behavior | Smoking - genetics | Continental Population Groups - genetics | Adenocarcinoma - secondary | Proto-Oncogene Proteins c-met - genetics | Phosphatidylinositol 3-Kinases - genetics | Class I Phosphatidylinositol 3-Kinases | Receptor Protein-Tyrosine Kinases - genetics | Proto-Oncogene Proteins B-raf - genetics | Gene Rearrangement | Genes, erbB-2 - genetics | Sex Factors | Neoplasm Staging | Adrenal Gland Neoplasms - genetics
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8. Full Text C3 glomerulopathy-associated CFHR1 mutation alters FHR oligomerization and complement regulation
by Tortajada, Agustín and Yébenes, Hugo and Abarrategui-Garrido, Cynthia and Anter, Jaouad and García-Fernández, Jesús M and Martínez-Barricarte, Rubén and Alba-Domínguez, María and Malik, Talat H and Bedoya, Rafael and Pérez, Rocío Cabrera and Trascasa, Margarita López and Pickering, Matthew C and Harris, Claire L and Sánchez-Corral, Pilar and Llorca, Oscar and De Córdoba, Santiago Rodríguez
The Journal of clinical investigation, ISSN 0021-9738, 06/2013, Volume 123, Issue 6, pp. 2434 - 2446
Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Gene Duplication | Hemolysis | Immobilized Proteins - chemistry | Kidney - pathology | Complement C3 - metabolism | Humans | Middle Aged | Protein Multimerization | Complement C3b Inactivator Proteins - genetics | Complement C3b Inactivator Proteins - chemistry | Male | Sequence Analysis, DNA | Kidney Diseases - genetics | Complement System Proteins - metabolism | Complement C3b Inactivator Proteins - metabolism | Complement C3 - chemistry | Pedigree | Immobilized Proteins - metabolism | Protein Structure, Quaternary | Complement System Proteins - isolation & purification | Protein Binding | Female | Mutagenesis, Insertional | Child | Glomerulonephritis | Complement factor H | Gene mutations | Physiological aspects | Causes of | Genetic aspects | Research | Proteins | Competition | Plasma | Carbohydrates | Mutation | Crystal structure | Index Medicus | Abridged Index Medicus | Avidity
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9. Full Text Entries in the Leiden Duchenne muscular dystrophy mutation database: An overview of mutation types and paradoxical cases that confirm the reading‐frame rule
by Aartsma‐Rus, Annemieke and Van Deutekom, Judith C. T and Fokkema, Ivo F and Van Ommen, Gert‐Jan B and Den Dunnen, Johan T
Muscle & nerve, ISSN 0148-639X, 08/2006, Volume 34, Issue 2, pp. 135 - 144
reading frame | Becker muscular dystrophy | mutation | dystrophin | Duchenne muscular dystrophy | Reading frame | Mutation | Dystrophin | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neurology | Errors of metabolism | Biological and medical sciences | Metabolic diseases | Medical sciences | Carbohydrates (enzymatic deficiencies). Glycogenosis | Diseases of striated muscles. Neuromuscular diseases | Phenotype | Gene Frequency | Humans | Databases, Genetic | Muscular Dystrophy, Duchenne - genetics | Mutation - genetics | Germany | Reading Frames - genetics | Index Medicus
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