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1. Full Text Sarcomas in TP53 germline mutation carriers: A review of the IARC TP53 database
by Ognjanovic, Simona and Olivier, Magali and Bergemann, Tracy L and Hainaut, Pierre
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
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2. Full Text Germline Mutations in Predisposition Genes in Pediatric Cancer
by Zhang, Jinghui and Walsh, Michael F and Wu, Gang and Edmonson, Michael N and Gruber, Tanja A and Easton, John and Hedges, Dale and Ma, Xiaotu and Zhou, Xin and Yergeau, Donald A and Wilkinson, Mark R and Vadodaria, Bhavin and Chen, Xiang and McGee, Rose B and Hines-Dowell, Stacy and Nuccio, Regina and Quinn, Emily and Shurtleff, Sheila A and Rusch, Michael and Patel, Aman and Becksfort, Jared B and Wang, Shuoguo and Weaver, Meaghann S and Ding, Li and Mardis, Elaine R and Wilson, Richard K and Gajjar, Amar and Ellison, David W and Pappo, Alberto S and Pui, Ching-Hon and Nichols, Kim E and Downing, James R
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
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3. Full Text Anaplastic rhabdomyosarcoma in TP53 germline mutation carriers
by Hettmer, Simone and Archer, Natasha M and Somers, Gino R and Novokmet, Ana and Wagers, Amy J and Diller, Lisa and Rodriguez‐Galindo, Carlos and Teot, Lisa A and Malkin, David
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
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4. Full Text Determinants of Mutation Rate Variation in the Human Germline
by Ségurel, Laure and Wyman, Minyoung J and Przeworski, Molly
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
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5. Full Text OlympiAD final overall survival and tolerability results: Olaparib versus chemotherapy treatment of physician’s choice in patients with a germline BRCA mutation and HER2-negative metastatic breast cancer
by Robson, M E and Tung, N and Conte, P and Im, S -A and Senkus, E and Xu, B and Masuda, N and Delaloge, S and Li, W and Armstrong, A and Wu, W and Goessl, C and Runswick, S and Domchek, S M
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
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6. Full Text A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome
by Lindhurst, Marjorie J and Sapp, Julie C and Teer, Jamie K and Johnston, Jennifer J and Finn, Erin M and Peters, Kathryn and Turner, Joyce and Cannons, Jennifer L and Bick, David and Blakemore, Laurel and Blumhorst, Catherine and Brockmann, Knut and Calder, Peter and Cherman, Natasha and Deardorff, Matthew A and Everman, David B and Golas, Gretchen and Greenstein, Robert M and Kato, B. Maya and Keppler-Noreuil, Kim M and Kuznetsov, Sergei A and Miyamoto, Richard T and Newman, Kurt and Ng, David and O'Brien, Kevin and Rothenberg, Steven and Schwartzentruber, Douglas J and Singhal, Virender and Tirabosco, Roberto and Upton, Joseph and Wientroub, Shlomo and Zackai, Elaine H and Hoag, Kimberly and Whitewood-Neal, Tracey and Robey, Pamela G and Schwartzberg, Pamela L and Darling, Thomas N and Tosi, Laura L and Mullikin, James C and Biesecker, Leslie G
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
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7. Full Text Germline Mutations in ATM and BRCA1/2 Distinguish Risk for Lethal and Indolent Prostate Cancer and are Associated with Early Age at Death
by Na, Rong and Zheng, S. Lilly and Han, Misop and Yu, Hongjie and Jiang, Deke and Shah, Sameep and Ewing, Charles M and Zhang, Liti and Novakovic, Kristian and Petkewicz, Jacqueline and Gulukota, Kamalakar and Helseth Jr, Donald L and Quinn, Margo and Humphries, Elizabeth and Wiley, Kathleen E and Isaacs, Sarah D and Wu, Yishuo and Liu, Xu and Zhang, Ning and Wang, Chi-Hsiung and Khandekar, Janardan and Hulick, Peter J and Shevrin, Daniel H and Cooney, Kathleen A and Shen, Zhoujun and Partin, Alan W and Carter, H. Ballentine and Carducci, Michael A and Eisenberger, Mario A and Denmeade, Sam R and McGuire, Michael and Walsh, Patrick C and Helfand, Brian T and Brendler, Charles B and Ding, Qiang and Xu, Jianfeng and Isaacs, William B
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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