Pharmacogenetics and Genomics, ISSN 1744-6872, 11/2018, Volume 28, Issue 11, pp. 245 - 250
OBJECTIVESTaxanes and anthracyclines are widely used in the treatment of breast cancer, although the benefit is limited to a proportion of patients and...
neoadjuvant single-agent chemotherapy | docetaxel | tumor response | breast cancer | doxorubicin | single nucleotide polymorphisms | pharmacogenetics | ABCC2 | TRANSPORTER | CYCLOPHOSPHAMIDE | CHEMOTHERAPY RESPONSE | DRUG-RESISTANCE | PROTEIN-2 MRP2/ABCC2 | DISPOSITION | POLYMORPHISMS | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | GENETICS & HEREDITY | PHARMACOLOGY & PHARMACY | EXPRESSION | ASSOCIATION | Cytochrome P-450 CYP1B1 - genetics | Doxorubicin - therapeutic use | Docetaxel - adverse effects | Genetic Association Studies | Humans | Middle Aged | Neoplasm Recurrence, Local - drug therapy | Breast Neoplasms - drug therapy | Randomized Controlled Trials as Topic | Neoplasm Recurrence, Local - pathology | Breast Neoplasms - genetics | Breast Neoplasms - pathology | Polymorphism, Single Nucleotide - genetics | Adult | Docetaxel - therapeutic use | Female | Multidrug Resistance-Associated Proteins - genetics | Neoplasm Recurrence, Local - genetics | Aged | Doxorubicin - adverse effects | Care and treatment | Usage | Analysis | Outcome and process assessment (Health Care) | Dosage and administration | Breast cancer | Biological markers | Doxorubicin
neoadjuvant single-agent chemotherapy | docetaxel | tumor response | breast cancer | doxorubicin | single nucleotide polymorphisms | pharmacogenetics | ABCC2 | TRANSPORTER | CYCLOPHOSPHAMIDE | CHEMOTHERAPY RESPONSE | DRUG-RESISTANCE | PROTEIN-2 MRP2/ABCC2 | DISPOSITION | POLYMORPHISMS | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | GENETICS & HEREDITY | PHARMACOLOGY & PHARMACY | EXPRESSION | ASSOCIATION | Cytochrome P-450 CYP1B1 - genetics | Doxorubicin - therapeutic use | Docetaxel - adverse effects | Genetic Association Studies | Humans | Middle Aged | Neoplasm Recurrence, Local - drug therapy | Breast Neoplasms - drug therapy | Randomized Controlled Trials as Topic | Neoplasm Recurrence, Local - pathology | Breast Neoplasms - genetics | Breast Neoplasms - pathology | Polymorphism, Single Nucleotide - genetics | Adult | Docetaxel - therapeutic use | Female | Multidrug Resistance-Associated Proteins - genetics | Neoplasm Recurrence, Local - genetics | Aged | Doxorubicin - adverse effects | Care and treatment | Usage | Analysis | Outcome and process assessment (Health Care) | Dosage and administration | Breast cancer | Biological markers | Doxorubicin
Journal Article
Nature, ISSN 0028-0836, 2017, Volume 551, Issue 7678, pp. 92 - 94
Breast cancer risk is influenced by rare coding variants in susceptibility genes, such as BRCA1, and many common, mostly non-coding variants. However, much of...
COMPREHENSIVE MOLECULAR PORTRAITS | PROTEIN | ANNOTATION | MULTIDISCIPLINARY SCIENCES | SUSCEPTIBILITY LOCI | ARCHITECTURE | PATHWAY ANALYSIS | MUTATIONS | ENHANCERS | EXPRESSION | GENOME-WIDE ASSOCIATION | Multifactorial Inheritance - genetics | European Continental Ancestry Group - genetics | Genetic Predisposition to Disease - genetics | Genome-Wide Association Study | Risk Assessment | Humans | Regulatory Sequences, Nucleic Acid | Asia - ethnology | Asian Continental Ancestry Group - genetics | Binding Sites - genetics | Genetic Loci | Europe - ethnology | Transcription Factors - metabolism | Breast Neoplasms - genetics | Computer Simulation | Polymorphism, Single Nucleotide - genetics | Female | Breast Neoplasms - diagnosis | Quantitative trait loci | Breast cancer | Genetic aspects | Health aspects | Risk factors | Medical research | Transcription factors | BRCA1 protein | Genes | Health risks | Association analysis | Risk | Genomes | Biology | Single-nucleotide polymorphism | Regulatory sequences | Epidemiology | Loci | Medicine | Womens health | Breast | Genetics | Heritability | Health risk assessment | Binding sites | Tumors | Cancer | Medical and Health Sciences | Medicin och hälsovetenskap
COMPREHENSIVE MOLECULAR PORTRAITS | PROTEIN | ANNOTATION | MULTIDISCIPLINARY SCIENCES | SUSCEPTIBILITY LOCI | ARCHITECTURE | PATHWAY ANALYSIS | MUTATIONS | ENHANCERS | EXPRESSION | GENOME-WIDE ASSOCIATION | Multifactorial Inheritance - genetics | European Continental Ancestry Group - genetics | Genetic Predisposition to Disease - genetics | Genome-Wide Association Study | Risk Assessment | Humans | Regulatory Sequences, Nucleic Acid | Asia - ethnology | Asian Continental Ancestry Group - genetics | Binding Sites - genetics | Genetic Loci | Europe - ethnology | Transcription Factors - metabolism | Breast Neoplasms - genetics | Computer Simulation | Polymorphism, Single Nucleotide - genetics | Female | Breast Neoplasms - diagnosis | Quantitative trait loci | Breast cancer | Genetic aspects | Health aspects | Risk factors | Medical research | Transcription factors | BRCA1 protein | Genes | Health risks | Association analysis | Risk | Genomes | Biology | Single-nucleotide polymorphism | Regulatory sequences | Epidemiology | Loci | Medicine | Womens health | Breast | Genetics | Heritability | Health risk assessment | Binding sites | Tumors | Cancer | Medical and Health Sciences | Medicin och hälsovetenskap
Journal Article
Translational Research, ISSN 1931-5244, 2015, Volume 166, Issue 6, pp. 783 - 787
PIK3CA gene is frequently mutated in patients with breast cancer and it has been the focus of intense research. Inhibitors of PI3K pathway are being evaluated...
Internal Medicine | Polymerase chain reaction | Care and treatment | Cancer patients | Hospitals | Liver | Breast cancer | Genetic aspects | Metastasis | Formaldehyde
Internal Medicine | Polymerase chain reaction | Care and treatment | Cancer patients | Hospitals | Liver | Breast cancer | Genetic aspects | Metastasis | Formaldehyde
Journal Article
Nature Communications, ISSN 2041-1723, 2019, Volume 10, Issue 1, pp. 431 - 23
Quantifying the genetic correlation between cancers can provide important insights into the mechanisms driving cancer etiology. Using genome-wide association...
BREAST-CANCER | LUNG-CANCER | RISK-FACTORS | PARTITIONING HERITABILITY | MULTIDISCIPLINARY SCIENCES | SUSCEPTIBILITY LOCI | GENETIC ARCHITECTURE | ANALYSES IDENTIFY | MENDELIAN RANDOMIZATION | CELL-TYPES | GENOME-WIDE ASSOCIATION | Lung Neoplasms - ethnology | Colorectal Neoplasms - genetics | Humans | Ovarian Neoplasms - pathology | Lung Neoplasms - pathology | Male | Prostatic Neoplasms - diagnosis | Case-Control Studies | Colorectal Neoplasms - diagnosis | Ovarian Neoplasms - ethnology | Inheritance Patterns | Ovarian Neoplasms - genetics | Mental Disorders - genetics | Prostatic Neoplasms - genetics | Smoking - physiopathology | Head and Neck Neoplasms - ethnology | Female | Neoplasm Proteins - genetics | Breast Neoplasms - ethnology | Lung Neoplasms - genetics | Prostatic Neoplasms - pathology | Genetic Predisposition to Disease | Genome-Wide Association Study | Colorectal Neoplasms - ethnology | Ovarian Neoplasms - diagnosis | European Continental Ancestry Group | Smoking - genetics | Prostatic Neoplasms - ethnology | Head and Neck Neoplasms - pathology | Mental Disorders - physiopathology | Smoking - ethnology | Phenotype | Breast Neoplasms - genetics | Breast Neoplasms - pathology | Head and Neck Neoplasms - diagnosis | Head and Neck Neoplasms - genetics | Breast Neoplasms - diagnosis | Mental Disorders - ethnology | Polymorphism, Single Nucleotide | Colorectal Neoplasms - pathology | Lung Neoplasms - diagnosis | Enrichment | Correlation | Statistical analysis | Ovarian carcinoma | Mental disorders | Lung cancer | Colorectal carcinoma | Genomes | Breast cancer | Regulatory sequences | Ovarian cancer | Etiology | Breast | Heritability | Neck | Solid tumors | Prostate cancer | Prostate | Cancer | Smoking | Basic Medicine | Medical Genetics | Medicinsk genetik | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
BREAST-CANCER | LUNG-CANCER | RISK-FACTORS | PARTITIONING HERITABILITY | MULTIDISCIPLINARY SCIENCES | SUSCEPTIBILITY LOCI | GENETIC ARCHITECTURE | ANALYSES IDENTIFY | MENDELIAN RANDOMIZATION | CELL-TYPES | GENOME-WIDE ASSOCIATION | Lung Neoplasms - ethnology | Colorectal Neoplasms - genetics | Humans | Ovarian Neoplasms - pathology | Lung Neoplasms - pathology | Male | Prostatic Neoplasms - diagnosis | Case-Control Studies | Colorectal Neoplasms - diagnosis | Ovarian Neoplasms - ethnology | Inheritance Patterns | Ovarian Neoplasms - genetics | Mental Disorders - genetics | Prostatic Neoplasms - genetics | Smoking - physiopathology | Head and Neck Neoplasms - ethnology | Female | Neoplasm Proteins - genetics | Breast Neoplasms - ethnology | Lung Neoplasms - genetics | Prostatic Neoplasms - pathology | Genetic Predisposition to Disease | Genome-Wide Association Study | Colorectal Neoplasms - ethnology | Ovarian Neoplasms - diagnosis | European Continental Ancestry Group | Smoking - genetics | Prostatic Neoplasms - ethnology | Head and Neck Neoplasms - pathology | Mental Disorders - physiopathology | Smoking - ethnology | Phenotype | Breast Neoplasms - genetics | Breast Neoplasms - pathology | Head and Neck Neoplasms - diagnosis | Head and Neck Neoplasms - genetics | Breast Neoplasms - diagnosis | Mental Disorders - ethnology | Polymorphism, Single Nucleotide | Colorectal Neoplasms - pathology | Lung Neoplasms - diagnosis | Enrichment | Correlation | Statistical analysis | Ovarian carcinoma | Mental disorders | Lung cancer | Colorectal carcinoma | Genomes | Breast cancer | Regulatory sequences | Ovarian cancer | Etiology | Breast | Heritability | Neck | Solid tumors | Prostate cancer | Prostate | Cancer | Smoking | Basic Medicine | Medical Genetics | Medicinsk genetik | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 01/2019, Volume 104, Issue 1, pp. 21 - 34
Stratification of women according to their risk of breast cancer based on polygenic risk scores (PRSs) could improve screening and prevention strategies. Our...
genetic | epidemiology | score | screening | stratification | polygenic | prediction | cancer | risk | breast | FUNCTIONAL VARIANTS | WOMEN | MODELS | SHRINKAGE | PROSTATE-CANCER | SUSCEPTIBILITY | GENETICS & HEREDITY | LOCUS | GENOME-WIDE ASSOCIATION | Prevention | Usage | Genetic susceptibility | Breast cancer | Genetic aspects | Research | Risk factors | Genetic screening | Basic Medicine | Medical Genetics | Medicinsk genetik | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
genetic | epidemiology | score | screening | stratification | polygenic | prediction | cancer | risk | breast | FUNCTIONAL VARIANTS | WOMEN | MODELS | SHRINKAGE | PROSTATE-CANCER | SUSCEPTIBILITY | GENETICS & HEREDITY | LOCUS | GENOME-WIDE ASSOCIATION | Prevention | Usage | Genetic susceptibility | Breast cancer | Genetic aspects | Research | Risk factors | Genetic screening | Basic Medicine | Medical Genetics | Medicinsk genetik | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
Journal Article
SCIENTIFIC REPORTS, ISSN 2045-2322, 08/2019, Volume 9, Issue 1, pp. 12524 - 14
Fanconi anemia (FA) is a genetically heterogeneous disorder with 22 disease-causing genes reported to date. In some FA genes, monoallelic mutations have been...
PROTEIN | FANCONIS ANEMIA | GENE | MULTIDISCIPLINARY SCIENCES | BIALLELIC MUTATIONS | DNA-REPAIR | PALB2 | NONSENSE MUTATION | BRCA2 protein | BRCA1 protein | Genes | Menopause | Hormone replacement therapy | Breast cancer | Mutation | Health risk assessment | Fanconi syndrome | Epidemiology | Genotypes | FANCC protein | Basic Medicine | Medical Genetics | Medicinsk genetik | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
PROTEIN | FANCONIS ANEMIA | GENE | MULTIDISCIPLINARY SCIENCES | BIALLELIC MUTATIONS | DNA-REPAIR | PALB2 | NONSENSE MUTATION | BRCA2 protein | BRCA1 protein | Genes | Menopause | Hormone replacement therapy | Breast cancer | Mutation | Health risk assessment | Fanconi syndrome | Epidemiology | Genotypes | FANCC protein | Basic Medicine | Medical Genetics | Medicinsk genetik | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
Journal Article
Nature Communications, ISSN 2041-1723, 04/2019, Volume 10, Issue 1, pp. 1741 - 18
textabstractGenome-wide association studies (GWAS) have identified more than 170 breast cancer susceptibility loci. Here we hypothesize that some...
REGULATOR | CELLS | COMPLEX | VARIANTS | CHROMATIN | CYCLIN E2 | AUTOIMMUNITY | MULTIDISCIPLINARY SCIENCES | DISEASE | ENHANCERS | EXPRESSION | Spleen | Immune response | Adipose tissue | Target recognition | Genes | Estrogens | Health risks | Estrogen receptors | Risk | Breast cancer | Genomes | Gene expression | Loci | Quantitative trait loci | Etiology | Breast | Gene mapping | Health risk assessment | Cancer | Immune system
REGULATOR | CELLS | COMPLEX | VARIANTS | CHROMATIN | CYCLIN E2 | AUTOIMMUNITY | MULTIDISCIPLINARY SCIENCES | DISEASE | ENHANCERS | EXPRESSION | Spleen | Immune response | Adipose tissue | Target recognition | Genes | Estrogens | Health risks | Estrogen receptors | Risk | Breast cancer | Genomes | Gene expression | Loci | Quantitative trait loci | Etiology | Breast | Gene mapping | Health risk assessment | Cancer | Immune system
Journal Article
Nature Communications, ISSN 2041-1723, 12/2019, Volume 10, Issue 1, pp. 1 - 8
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Heritability
Heritability
Journal Article
9.
Full Text
Genome-wide association study of germline variants and breast cancer-specific mortality
British Journal of Cancer, ISSN 0007-0920, 02/2019, Volume 120, Issue 6, pp. 647 - 657
textabstractBACKGROUND: We examined the associations between germline variants and breast cancer mortality using a large meta-analysis of women of European...
SURVIVAL | GENETIC-VARIATION | TUMOR SUBTYPES | ONCOLOGY | PROGNOSIS | PATHWAY | SUSCEPTIBILITY LOCI | RISK | EXPRESSION | SINGLE-NUCLEOTIDE POLYMORPHISMS | CLINICAL-OUTCOMES | Statistical analysis | Mortality | Chromosome 7 | Breast cancer | Genomes | Ribonucleic acid--RNA | Patients | Confidence intervals | Breast | Mathematical models | HOXA gene | Bayesian analysis | Non-coding RNA | Cancer | Prognostic markers | Cancer genetics | Prognosis | Clinical Medicine | Medical and Health Sciences | Klinisk medicin | Cancer and Oncology | Medicin och hälsovetenskap | Cancer och onkologi
SURVIVAL | GENETIC-VARIATION | TUMOR SUBTYPES | ONCOLOGY | PROGNOSIS | PATHWAY | SUSCEPTIBILITY LOCI | RISK | EXPRESSION | SINGLE-NUCLEOTIDE POLYMORPHISMS | CLINICAL-OUTCOMES | Statistical analysis | Mortality | Chromosome 7 | Breast cancer | Genomes | Ribonucleic acid--RNA | Patients | Confidence intervals | Breast | Mathematical models | HOXA gene | Bayesian analysis | Non-coding RNA | Cancer | Prognostic markers | Cancer genetics | Prognosis | Clinical Medicine | Medical and Health Sciences | Klinisk medicin | Cancer and Oncology | Medicin och hälsovetenskap | Cancer och onkologi
Journal Article