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Cancer, ISSN 0008-543X, 03/2012, Volume 118, Issue 5, pp. 1387 - 1396
sarcoma | Surveillance | germline TP53 mutations | End Results | Epidemiology | IARC TP53 Database | Li-Fraumeni syndrome | Life Sciences & Biomedicine | Oncology | Science & Technology | Biological and medical sciences | Multiple tumors. Solid tumors. Tumors in childhood (general aspects) | Medical sciences | Tumors | United States - epidemiology | SEER Program | Age Factors | Genetic Association Studies | Humans | Germ-Line Mutation | Heterozygote | Sarcoma - diagnosis | Sarcoma - epidemiology | Genes, p53 - genetics | Sarcoma - genetics | Databases, Genetic - statistics & numerical data | Care and treatment | Diagnosis | Sarcoma | Index Medicus | Abridged Index Medicus
Journal Article
The New England journal of medicine, ISSN 0028-4793, 12/2015, Volume 373, Issue 24, pp. 2336 - 2346
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Autistic Disorder - genetics | Genetic Predisposition to Disease | SEER Program | Genes, Neoplasm | Humans | Male | Young Adult | Genes, Dominant | Neoplasms - genetics | Adolescent | Germ-Line Mutation | Female | Genome, Human | Child | Sequence Analysis, DNA - methods | Usage | Gene mutations | Genetic aspects | Nucleotide sequencing | Research | Risk factors | Cancer in children | DNA sequencing | BRCA2 protein | Pediatrics | Nucleotide sequence | Pathogenesis | p53 Protein | Genes | Data processing | Runx1 protein | Genomes | Children & youth | Adenomatous polyposis coli | Pathogenicity | Autism | Computer applications | Tumor suppressor genes | Tumorigenesis | Children | Mutation | Adolescents | Cancer | Index Medicus | Abridged Index Medicus
Journal Article
Cancer, ISSN 0008-543X, 04/2014, Volume 120, Issue 7, pp. 1068 - 1075
anaplasia | germline mutations | rhabdomyosarcoma | Li‐Fraumeni syndrome | TP53 | Li-Fraumeni syndrome | Life Sciences & Biomedicine | Oncology | Science & Technology | Biological and medical sciences | Multiple tumors. Solid tumors. Tumors in childhood (general aspects) | Medical sciences | Diseases of the osteoarticular system | Tumors of striated muscle and skeleton | Tumors | Genetic Predisposition to Disease | Humans | Middle Aged | Rhabdomyosarcoma - pathology | Male | Young Adult | Genes, p53 | Aged, 80 and over | Germ-Line Mutation | Adult | Female | Aged | Rhabdomyosarcoma - genetics | Cohort Studies | Influence | Mutation (Biology) | Risk factors | Rhabdomyosarcoma | Index Medicus | Abridged Index Medicus
Journal Article
Annual review of genomics and human genetics, ISSN 1527-8204, 8/2014, Volume 15, Issue 1, pp. 47 - 70
CpG | evolution | generation time effect | germline mutation | human | paternal age effect | DNA - genetics | Animals | Genomics | Humans | Germ-Line Mutation | Mutation Rate | Genome, Human | Evolution, Molecular | Genetic research | Research | Gene mutations | Genetic variation | Index Medicus | Life Sciences | Genetics
Journal Article
Annals of oncology, ISSN 0923-7534, 04/2019, Volume 30, Issue 4, pp. 558 - 566
germline BRCA mutation | overall survival | breast cancer | olaparib | PARP inhibitor | tolerability | Life Sciences & Biomedicine | Oncology | Science & Technology | Piperazines - administration & dosage | Antineoplastic Combined Chemotherapy Protocols - administration & dosage | Follow-Up Studies | Tablets | Anemia - epidemiology | Humans | Middle Aged | Receptor, ErbB-2 - metabolism | Antineoplastic Combined Chemotherapy Protocols - adverse effects | Germ-Line Mutation | Adult | Female | Phthalazines - administration & dosage | Administration, Oral | Anemia - chemically induced | Poly(ADP-ribose) Polymerase Inhibitors - adverse effects | Breast Neoplasms - drug therapy | Piperazines - adverse effects | Poly(ADP-ribose) Polymerase Inhibitors - administration & dosage | BRCA1 Protein - genetics | Breast Neoplasms - genetics | Breast Neoplasms - pathology | Progression-Free Survival | Breast Neoplasms - mortality | Aged | Receptor, ErbB-2 - analysis | Phthalazines - adverse effects | Index Medicus | Editor's Choice | Original
Journal Article
The New England journal of medicine, ISSN 0028-4793, 08/2011, Volume 365, Issue 7, pp. 611 - 619
CELLS | DEFECTS | MCCUNE-ALBRIGHT SYNDROME | GERMLINE MUTATION | LETHAL GENES | LIPOMATOSIS | GROWTH | MICE | TUMOR-SUPPRESSOR PTEN | CHALLENGES | Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Biological and medical sciences | General aspects | Complex syndromes | Medical sciences | Medical genetics | Phosphorylation | DNA Mutational Analysis | Humans | Exons - genetics | Genotype | Male | Mosaicism | Proteus Syndrome - genetics | Mutation | Proto-Oncogene Proteins c-akt - metabolism | Child | Proto-Oncogene Proteins c-akt - genetics | Care and treatment | Usage | Gene mutations | Proteus syndrome | Causes of | Genetic aspects | Research | Nucleotide sequencing | Cell proliferation | Cell culture | Enzymes | AKT1 protein | Nucleotide sequence | Families & family life | AKT protein | Genomes | Patients | Western blotting | 1-Phosphatidylinositol 3-kinase | Genetic counseling | Biopsy | Skin | Deoxyribonucleic acid--DNA | DNA sequencing | Apoptosis | Index Medicus | Abridged Index Medicus
Journal Article
European urology, ISSN 0302-2838, 2016, Volume 71, Issue 5, pp. 740 - 747
Urology | Lethal prostate cancer | DNA repair genes | Mutation | Germline | Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | Prostatic Neoplasms - pathology | European Continental Ancestry Group - genetics | Prognosis | Age Factors | Humans | Middle Aged | Asian Continental Ancestry Group - genetics | Proportional Hazards Models | Male | Sequence Analysis, DNA | Case-Control Studies | Prostatic Neoplasms - mortality | BRCA1 Protein - genetics | Neoplasm Grading | Prostatic Neoplasms - genetics | Survival Analysis | Germ-Line Mutation | Aged | Retrospective Studies | African Continental Ancestry Group - genetics | Ataxia Telangiectasia Mutated Proteins - genetics | BRCA2 Protein - genetics | Medical colleges | Genetic aspects | Gene mutations | Prostate cancer | Health aspects | Genetically modified organisms | Genetic research | Index Medicus
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