المؤلفون: Jan Hauke, Christoph Engel, Esther Pohl-Rescigno, Stefan Kommoss, Philipp Harter, Julia C. Stingl, Julika Borde, Frederik Marmé, Dimo Dietrich, Nana Weber-Lassalle, Eric Hahnen, Katharina Prieske, Rita K. Schmutzler, Corinna Ernst, Beyhan Ataseven, Konstantin Weber-Lassalle, Alexander Reuss

المصدر: Human Mutation. 39:2040-2046

مصطلحات موضوعية: Adult, 0301 basic medicine, Oncology, medicine.medical_specialty, endocrine system diseases, medicine.medical_treatment, Biology, Li-Fraumeni Syndrome, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, Internal medicine, Genetics, medicine, Humans, Genetic Predisposition to Disease, neoplasms, Gene, Early Detection of Cancer, Germ-Line Mutation, Genetics (clinical), Aged, Chemotherapy, Case-control study, DNA, Neoplasm, Middle Aged, medicine.disease, Hematopoiesis, Haematopoiesis, 030104 developmental biology, Li–Fraumeni syndrome, Case-Control Studies, 030220 oncology & carcinogenesis, Female, Observational study, Tumor Suppressor Protein p53, Ovarian cancer

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c3bcf80121f9f3473279e1bf21d92bfTest
https://doi.org/10.1002/humu.23653Test

المؤلفون: Hannah C. Cox, Karla R. Bowles, Susan Manley, Ryan Bernhisel, Bradford Coffee, Debora Mancini-DiNardo, Benjamin B. Roa

المصدر: Human Mutation

مصطلحات موضوعية: Adult, Male, Proband, Heterozygote, Adolescent, Family Cancer History, next‐generation sequencing, Biology, DNA sequencing, Germline, Young Adult, 03 medical and health sciences, pathogenic variant, Neoplasms, hereditary pan‐cancer gene panel, Genetics, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, TP53, Allele frequency, Alleles, Genetic Association Studies, Germ-Line Mutation, Research Articles, Genetics (clinical), Aged, 030304 developmental biology, Aged, 80 and over, 0303 health sciences, Pan cancer, 030305 genetics & heredity, Clonal hematopoiesis, High-Throughput Nucleotide Sequencing, Middle Aged, medicine.disease, Li–Fraumeni syndrome, Mutation, Female, Tumor Suppressor Protein p53, acquired somatically, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d92431e591d1e3ab9aa56702c773172Test
https://doi.org/10.1002/humu.23910Test

المؤلفون: Emma R. Woodward, D. Gareth Evans, Clare Turnbull

المصدر: Evans, D G, Turnbull, C & Woodward, E 2019, ' Concern regarding classification of germline TP53 variants as likely pathogenic ', Human Mutation . https://doi.org/10.1002/humu.23750Test

مصطلحات موضوعية: Li-Fraumeni Syndrome, Genetics, Germ Cells, Prevalence, Humans, Tumor Suppressor Protein p53, Biology, Germ-Line Mutation, Genetics (clinical), Likely pathogenic, Germline

وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::150a5d8f114369150edf9b814f787e37Test
https://doi.org/10.1002/humu.23750Test

المؤلفون: Amanda B. Spurdle, Paul A. James, Cristina Fortuno

المصدر: Human mutation. 39(12)

مصطلحات موضوعية: 0301 basic medicine, Oncology, medicine.medical_specialty, endocrine system diseases, Population, Breast Neoplasms, Biology, Li-Fraumeni Syndrome, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, Breast cancer, Gene Frequency, Internal medicine, Genetics, medicine, Humans, Genetic Predisposition to Disease, Age of Onset, skin and connective tissue diseases, education, neoplasms, Genetics (clinical), Early Detection of Cancer, Germ-Line Mutation, Genetic testing, BRCA2 Protein, education.field_of_study, medicine.diagnostic_test, BRCA1 Protein, Cancer, medicine.disease, 030104 developmental biology, Li–Fraumeni syndrome, 030220 oncology & carcinogenesis, Female, Age of onset, Tumor Suppressor Protein p53, Ovarian cancer

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6836390c76aa5a120bce3e1b4bb55135Test
https://pubmed.ncbi.nlm.nih.gov/30240537Test

المؤلفون: Lisa Mirabello, Kelvin C. de Andrade, Maria Isabel Achatz, Nathanaël Lemonnier, Karina Miranda Santiago, Talia Wegman-Ostrosky, Amina Amadou, Fernanda P. Fortes, Luiz Paulo Kowalski, Douglas R. Stewart, Sharon A. Savage, Pierre Hainaut, Payal P. Khincha, Jung Kim, Megan N. Frone

المصدر: Human Mutation. 40:832-833

مصطلحات موضوعية: Genetics, MEDLINE, Biology, medicine.disease, Li-Fraumeni Syndrome, Germ Cells, Germline mutation, Li–Fraumeni syndrome, Prevalence, medicine, Humans, Tumor Suppressor Protein p53, Germ-Line Mutation, Genetics (clinical), Likely pathogenic

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8db5955abcb05d6910c8ac411e8fc8b0Test
https://doi.org/10.1002/humu.23749Test

المؤلفون: David Malkin, Badr Id Said, Ana Novokmet, Han Kim, James Tran

المصدر: Human mutation. 37(9)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Transcriptional Activation, endocrine system diseases, Genetic enhancement, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Germline, Cell Line, Li-Fraumeni Syndrome, 03 medical and health sciences, Exon, Transactivation, Young Adult, 0302 clinical medicine, stomatognathic system, Genetics, medicine, Humans, Genetic Predisposition to Disease, Child, neoplasms, Gene, Genetics (clinical), Germ-Line Mutation, Tp53 polymorphism, medicine.disease, 3. Good health, Pedigree, 030104 developmental biology, Li–Fraumeni syndrome, 030220 oncology & carcinogenesis, Female, Tumor Suppressor Protein p53

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2e738842c8aa987b565e06e9e205fc3Test
https://pubmed.ncbi.nlm.nih.gov/27297285Test

المؤلفون: David Thomas

المصدر: Human Mutation. 38:1619-1619

مصطلحات موضوعية: 0301 basic medicine, BRCA1 Protein, Brca1 protein, 030105 genetics & heredity, Biology, medicine.disease, Bioinformatics, Li-Fraumeni Syndrome, 03 medical and health sciences, Germline mutation, Li–Fraumeni syndrome, Genetics, medicine, Humans, Female, Tumor Suppressor Protein p53, Early Detection of Cancer, Germ-Line Mutation, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb6ef9371de081c73a3d14c5b3abeb81Test
https://doi.org/10.1002/humu.23342Test

المؤلفون: Alessandra Bisio, Paola Monti, Alberto Inga, Yari Ciribilli, Gilberto Fronza

المصدر: Human Mutation. 35:689-701

مصطلحات موضوعية: Genetics, Genotype, Mutant, Biology, Phenotype, Germline, law.invention, Li-Fraumeni Syndrome, Transcriptome, Transactivation, law, Transcription (biology), Databases, Genetic, Cancer cell, Humans, Suppressor, Genetic Predisposition to Disease, Tumor Suppressor Protein p53, neoplasms, Germ-Line Mutation, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7a27c623309eb47314e2255f6be6f37Test
https://doi.org/10.1002/humu.22514Test

المؤلفون: Jennifer Varley

المصدر: Human Mutation. 21:313-320

مصطلحات موضوعية: Family Health, Genetics, Genotype, Cancer, Pedigree chart, Biology, medicine.disease, Phenotype, Germline, Li-Fraumeni Syndrome, Germline mutation, Li–Fraumeni syndrome, medicine, Humans, Adrenocortical carcinoma, Tumor Suppressor Protein p53, neoplasms, Germ-Line Mutation, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc827a7072b1ce76b1af1e538e7cda20Test
https://doi.org/10.1002/humu.10185Test

المؤلفون: Isik G. Yulug, Milena Gasco, Tim Crook

المصدر: Human Mutation

مصطلحات موضوعية: p53, Carcinogenesis, Mutant, Apoptosis, Review, medicine.disease_cause, Breast cancer, LFS, TP53, Li- Fraumeni syndrome, skin and connective tissue diseases, Genetics (clinical), Cancer, Protein p53, Priority journal, Genetics, Mutation, Tumor, BRCA1 Protein, Genetic analysis, BRCA2 Protein, Phenotype, Female, Human, Heterozygote, Tumor suppressor protein p53, Breast Neoplasms, Biology, medicine, Humans, Gene mutation, Family Health, Transactivation, Family health, BRCA1, medicine.disease, BRCA2, Li–Fraumeni syndrome, Cancer research, Tumor Suppressor Protein p53, Familial disease, Breast neoplasms, Gene function, Nucleotide sequence

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7efdd4e8f75fe0b39bef29d057aec023Test
https://doi.org/10.1002/humu.10173Test