Informacja

Drogi użytkowniku, aplikacja do prawidłowego działania wymaga obsługi JavaScript. Proszę włącz obsługę JavaScript w Twojej przeglądarce.

English (EN)·Polski (PL)·Ukraiński (UK)
Przejdź do strony domowej biblioteki Uniwersytet Ekonomiczny we Wrocławiu Link otwiera się w nowym oknie Logo biblioteki Prolib Integro - strona głównaUniwersytet Ekonomiczny we Wrocławiu

Wyszukujesz frazę ""Achatz MI"" wg kryterium: Autor

  Lista filtrów
Wyrównaj
Wyświetlanie 1-20 z 25
Tytuł:
The Clinical and Molecular Profile of Lung Cancer Patients Harboring the TP53 R337H Germline Variant in a Brazilian Cancer Center: The Possible Mechanism of Carcinogenesis.
Autorzy:
Lopes CDH; Hospital Sirio Libanes, São Paulo 01308-050, Brazil.
Antonacio FF; Hospital Sirio Libanes, São Paulo 01308-050, Brazil.
Moraes PMG; Hospital Sirio Libanes, São Paulo 01308-050, Brazil.
Asprino PF; Hospital Sirio Libanes, São Paulo 01308-050, Brazil.
Galante PAF; Hospital Sirio Libanes, São Paulo 01308-050, Brazil.
Jardim DL; Hospital Sirio Libanes, São Paulo 01308-050, Brazil.; Oncoclínicas, São Paulo 04543-906, Brazil.
de Macedo MP; Hospital Sirio Libanes, São Paulo 01308-050, Brazil.
Sandoval RL; Hospital Sirio Libanes, São Paulo 01308-050, Brazil.
Katz A; Hospital Sirio Libanes, São Paulo 01308-050, Brazil.
de Castro G Jr; Hospital Sirio Libanes, São Paulo 01308-050, Brazil.
Achatz MI; Hospital Sirio Libanes, São Paulo 01308-050, Brazil.
Pokaż więcej
Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Oct 10; Vol. 24 (20). Date of Electronic Publication: 2023 Oct 10.
Typ publikacji:
Journal Article
MeSH Terms:
Li-Fraumeni Syndrome*/genetics
Lung Neoplasms*/epidemiology
Lung Neoplasms*/genetics
Adenocarcinoma of Lung*/genetics
Female ; Humans ; Aged ; Brazil/epidemiology ; Tumor Suppressor Protein p53/genetics ; Genetic Predisposition to Disease ; Germ-Line Mutation ; Carcinogenesis ; Germ Cells/pathology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Expanding the phenotype of E318K (c.952G > A) MITF germline mutation carriers: case series and review of the literature.
Autorzy:
Oliveira LJC; Serviço de Oncogenética - Centro de Oncologia Hospital Sírio-Libanês, Rua Dona Adma Jafet, 91, 01308-050, São Paulo, Brazil. .
Gongora ABL; Serviço de Oncogenética - Centro de Oncologia Hospital Sírio-Libanês, Rua Dona Adma Jafet, 91, 01308-050, São Paulo, Brazil.
Lima FAS; Serviço de Oncogenética - Centro de Oncologia Hospital Sírio-Libanês, Rua Dona Adma Jafet, 91, 01308-050, São Paulo, Brazil.
Canedo FSNA; Serviço de Oncogenética - Centro de Oncologia Hospital Sírio-Libanês, Rua Dona Adma Jafet, 91, 01308-050, São Paulo, Brazil.
Quirino CV; Serviço de Oncogenética - Centro de Oncologia Hospital Sírio-Libanês, Rua Dona Adma Jafet, 91, 01308-050, São Paulo, Brazil.
Pisani JP; Serviço de Oncogenética - Centro de Oncologia Hospital Sírio-Libanês, Rua Dona Adma Jafet, 91, 01308-050, São Paulo, Brazil.
Achatz MI; Serviço de Oncogenética - Centro de Oncologia Hospital Sírio-Libanês, Rua Dona Adma Jafet, 91, 01308-050, São Paulo, Brazil.
Rossi BM; Serviço de Oncogenética - Centro de Oncologia Hospital Sírio-Libanês, Rua Dona Adma Jafet, 91, 01308-050, São Paulo, Brazil.
Pokaż więcej
Źródło:
Hereditary cancer in clinical practice [Hered Cancer Clin Pract] 2021 Jul 21; Vol. 19 (1), pp. 32. Date of Electronic Publication: 2021 Jul 21.
Typ publikacji:
Journal Article
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Germline molecular data in hereditary breast cancer in Brazil: Lessons from a large single-center analysis.
Autorzy:
Sandoval RL; Department of Oncology, Hospital Sírio-Libanês, Brasília, Distrito Federal, Brazil.
Leite ACR; Department of Oncology, Hospital Sírio-Libanês, Brasília, Distrito Federal, Brazil.
Barbalho DM; Department of Oncology, Hospital Sírio-Libanês, Brasília, Distrito Federal, Brazil.
Assad DX; Department of Oncology, Hospital Sírio-Libanês, Brasília, Distrito Federal, Brazil.
Barroso R; Department of Oncology, Hospital Sírio-Libanês, Brasília, Distrito Federal, Brazil.
Polidorio N; Department of Oncology, Hospital Sírio-Libanês, Brasília, Distrito Federal, Brazil.
Dos Anjos CH; Department of Oncology, Hospital Sírio-Libanês, Brasília, Distrito Federal, Brazil.
de Miranda AD; Clínica da mama, Brasília, Distrito Federal, Brazil.
Ferreira ACSM; Oncoclínicas, Brasília, Distrito Federal, Brazil.
Fernandes GDS; Department of Oncology, Hospital Sírio-Libanês, Brasília, Distrito Federal, Brazil.
Achatz MI; Department of Oncology, Hospital Sírio-Libanês, São Paulo, São Paulo, Brazil.
Pokaż więcej
Źródło:
PloS one [PLoS One] 2021 Feb 19; Vol. 16 (2), pp. e0247363. Date of Electronic Publication: 2021 Feb 19 (Print Publication: 2021).
Typ publikacji:
Journal Article
MeSH Terms:
Genetic Markers*
Germ-Line Mutation*
Breast Neoplasms/*diagnosis
BRCA1 Protein/genetics ; BRCA2 Protein/genetics ; Brazil ; Breast Neoplasms/genetics ; Checkpoint Kinase 2/genetics ; Fanconi Anemia Complementation Group N Protein/genetics ; Female ; Genetic Counseling ; Genetic Predisposition to Disease ; Humans ; Premenopause ; Retrospective Studies ; Tertiary Care Centers ; Tumor Suppressor Protein p53/genetics
SCR Disease Name:
Breast Cancer, Familial
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Family Health Leaders: Lessons on Living with Li-Fraumeni Syndrome across Generations.
Autorzy:
Pantaleao A; Department of Family Science, School of Public Health, University of Maryland, College Park, MD.
Young JL; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD.; School of Medicine, Center for Biomedical Ethics, Stanford University, Stanford, CA.
Epstein NB; Department of Family Science, School of Public Health, University of Maryland, College Park, MD.
Carlson M; School of Social Policy and Practice, University of Pennsylvania, Philadelphia, PA.
Bremer RC; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD.
Khincha PP; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD.
Peters JA; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD.
Greene MH; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD.
Roy K; Department of Family Science, School of Public Health, University of Maryland, College Park, MD.
Achatz MI; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD.
Savage SA; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD.
Werner-Lin A; School of Social Policy and Practice, University of Pennsylvania, Philadelphia, PA.
Pokaż więcej
Źródło:
Family process [Fam Process] 2020 Dec; Vol. 59 (4), pp. 1648-1663. Date of Electronic Publication: 2019 Oct 24.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural
MeSH Terms:
Family*/psychology
Family Health*
Leadership*
Li-Fraumeni Syndrome*/psychology
Role*
Adolescent ; Adult ; Female ; Humans ; Male ; Young Adult ; Family Characteristics ; Grounded Theory ; Health Behavior ; Qualitative Research
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Complete Clinical Response in Stage IVB Endometrioid Endometrial Carcinoma after First-Line Pembrolizumab Therapy: Report of a Case with Isolated Loss of PMS2 Protein.
Autorzy:
Carvalho JP; Discipline of Gynecology, Instituto do Cancer ICESP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil.; Oncology Center, Hospital Sirio-Libanes, Sao Paulo, Brazil.
Del Giglio A; Clinical Oncology Department, Faculdade de Medicina do ABC (FMABC), Santo Andre, Brazil.
Achatz MI; Oncology Center, Hospital Sirio-Libanes, Sao Paulo, Brazil.
Carvalho FM; Department of Pathology, Faculdade de Medicina FMUSP, Universidade de Sao Paulo, Sao Paulo, Brazil.
Pokaż więcej
Źródło:
Case reports in oncology [Case Rep Oncol] 2020 Sep 07; Vol. 13 (3), pp. 1067-1074. Date of Electronic Publication: 2020 Sep 07 (Print Publication: 2020).
Typ publikacji:
Case Reports
Raport
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer.
Autorzy:
Pinheiro M; Faculty of Medicine, Sao Paulo State University, UNESP, Botucatu SP 18618-687, Brazil.; International Research Center, A.C. Camargo Cancer Center, São Paulo SP 01508-010, Brazil.
Lupinacci FCS; International Research Center, A.C. Camargo Cancer Center, São Paulo SP 01508-010, Brazil.
Santiago KM; International Research Center, A.C. Camargo Cancer Center, São Paulo SP 01508-010, Brazil.
Drigo SA; Department of Surgery and Orthopedics, Experimental Research Unity, Faculty of Medicine, São Paulo State University, UNESP, Botucatu SP 18618-687, Brazil.
Marchi FA; International Research Center, A.C. Camargo Cancer Center, São Paulo SP 01508-010, Brazil.
Fonseca-Alves CE; Department of Veterinary Surgery and Anesthesiology, São Paulo State University, UNESP, Botucatu SP 18618-681, Brazil.
Andrade SCDS; Department of Genetics and Evolutionary Biology, University of São Paulo, USP, São Paulo SP 05508-090, Brazil.
Aagaard MM; Department of Clinical Genetics, Vejle University Hospital, 7100 Vejle, Denmark.
Basso TR; International Research Center, A.C. Camargo Cancer Center, São Paulo SP 01508-010, Brazil.
Dos Reis MB; International Research Center, A.C. Camargo Cancer Center, São Paulo SP 01508-010, Brazil.
Villacis RAR; Department of Genetics and Morphology, Institute of Biological Sciences, University of Brasília, UnB, Brasília DF 70910-900, Brazil.
Roffé M; International Research Center, A.C. Camargo Cancer Center, São Paulo SP 01508-010, Brazil.
Hajj GNM; International Research Center, A.C. Camargo Cancer Center, São Paulo SP 01508-010, Brazil.
Jurisica I; Krembil Research Institute, UHN, University of Toronto, Toronto, ON M5G 2C4, Canada.; Institute of Neuroimmunology, Slovak Academy of Sciences, 845 10 Bratislava, Slovakia.
Kowalski LP; International Research Center, A.C. Camargo Cancer Center, São Paulo SP 01508-010, Brazil.
Achatz MI; Cancer Genetics Unit, Centro de Oncologia, Hospital Sirio Libanês, São Paulo SP 01308-050, Brazil.
Rogatto SR; Department of Clinical Genetics, Vejle University Hospital, Institute of Regional Health Research, University of Southern Denmark, 5000 Odense, Denmark.
Pokaż więcej
Źródło:
Cancers [Cancers (Basel)] 2020 May 20; Vol. 12 (5). Date of Electronic Publication: 2020 May 20.
Typ publikacji:
Journal Article
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Genomic profiling in ovarian cancer retreated with platinum based chemotherapy presented homologous recombination deficiency and copy number imbalances of CCNE1 and RB1 genes.
Autorzy:
da Costa AABA; Department of Medical Oncology, AC Camargo Cancer Center, Rua Professor Antonio Prudente 211, São Paulo, CEP: 01509-010, Brazil. .
do Canto LM; CIPE - AC Camargo Cancer Center, São Paulo, Brazil.; Dept of Clinical Genetics, Vejle Hospital, Institute of Regional Health Research, University of Southern Denmark, Vejle, DK, Denmark.
Larsen SJ; Dept of Mathematics and Computer Science, University of Southern Denmark, Odense, DK, Denmark.
Ribeiro ARG; Department of Medical Oncology, AC Camargo Cancer Center, Rua Professor Antonio Prudente 211, São Paulo, CEP: 01509-010, Brazil.
Stecca CE; Department of Medical Oncology, AC Camargo Cancer Center, Rua Professor Antonio Prudente 211, São Paulo, CEP: 01509-010, Brazil.
Petersen AH; Dept of Mathematics and Computer Science, University of Southern Denmark, Odense, DK, Denmark.
Aagaard MM; Dept of Mathematics and Computer Science, University of Southern Denmark, Odense, DK, Denmark.
de Brot L; Dept of Pathology, AC Camargo Cancer Center, São Paulo, Brazil.
Baumbach J; Chair of Experimental Bioinformatics, TUM School of Life Sciences Weihenstephan Technical University of Munich, Munich, Germany.
Baiocchi G; Dept of Gynecologic Oncology, AC Camargo Cancer Center, São Paulo, Brazil.
Achatz MI; Centro de Oncologia, Hospital Sírio-Libanês, São Paulo, Brazil.
Rogatto SR; Dept of Clinical Genetics, Vejle Hospital, Institute of Regional Health Research, University of Southern Denmark, Vejle, DK, Denmark.
Pokaż więcej
Źródło:
BMC cancer [BMC Cancer] 2019 May 06; Vol. 19 (1), pp. 422. Date of Electronic Publication: 2019 May 06.
Typ publikacji:
Journal Article
MeSH Terms:
Antineoplastic Combined Chemotherapy Protocols/*pharmacology
Cyclin E/*genetics
Drug Resistance, Neoplasm/*genetics
Oncogene Proteins/*genetics
Ovarian Neoplasms/*genetics
Platinum Compounds/*pharmacology
Retinoblastoma Binding Proteins/*genetics
Ubiquitin-Protein Ligases/*genetics
Aged ; Antineoplastic Combined Chemotherapy Protocols/therapeutic use ; Brazil/epidemiology ; Child, Preschool ; DNA Copy Number Variations/genetics ; DNA Mutational Analysis ; Female ; Homologous Recombination/genetics ; Humans ; Middle Aged ; Ovarian Neoplasms/drug therapy ; Ovarian Neoplasms/mortality ; Platinum Compounds/therapeutic use ; Progression-Free Survival ; Retreatment ; Retrospective Studies ; Survival Analysis
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls.
Autorzy:
Kim J; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, MD, 20850, USA.
Luo W; Cancer Genomics Research Laboratory, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Leidos Biomedical Research, Inc., Frederick, MD, 21701, USA.
Wang M; Cancer Genomics Research Laboratory, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Leidos Biomedical Research, Inc., Frederick, MD, 21701, USA.
Wegman-Ostrosky T; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, MD, 20850, USA.; División de Investigación, Instituto Nacional de Cancerología, 14080, Mexico City, Mexico.
Frone MN; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, MD, 20850, USA.
Johnston JJ; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, 20892, USA.
Nickerson ML; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Gaithersburg, MD, 20877, USA.
Rotunno M; Epidemiology and Genomics Research Program, Division of Cancer Control and Population Sciences, National Cancer Institute, NIH, Rockville, MD, 20850, USA.
Li SA; Cancer Genomics Research Laboratory, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Leidos Biomedical Research, Inc., Frederick, MD, 21701, USA.
Achatz MI; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, MD, 20850, USA.; Centro de Oncologia, Hospital Sirio-Libanes, Sao Paulo, SP, 013050-050, Brazil.
Brodie SA; Cancer Genomics Research Laboratory, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Leidos Biomedical Research, Inc., Frederick, MD, 21701, USA.
Dean M; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Gaithersburg, MD, 20877, USA.
de Andrade KC; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, MD, 20850, USA.; International Research Center, A.C. Camargo Cancer Center, São Paulo, 01508-010, Brazil.
Fortes FP; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, MD, 20850, USA.; International Research Center, A.C. Camargo Cancer Center, São Paulo, 01508-010, Brazil.
Gianferante M; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, MD, 20850, USA.
Khincha P; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, MD, 20850, USA.
McMaster ML; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, MD, 20850, USA.
McReynolds LJ; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, MD, 20850, USA.
Pemov A; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, MD, 20850, USA.
Pinheiro M; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, MD, 20850, USA.
Santiago KM; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, MD, 20850, USA.; International Research Center, A.C. Camargo Cancer Center, São Paulo, 01508-010, Brazil.
Alter BP; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, MD, 20850, USA.
Caporaso NE; Occupational and Environmental Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, MD, 20850, USA.
Gadalla SM; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, MD, 20850, USA.
Goldin LR; Integrative Tumor Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, MD, 20850, USA.
Greene MH; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, MD, 20850, USA.
Loud J; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, MD, 20850, USA.
Yang XR; Integrative Tumor Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, MD, 20850, USA.
Freedman ND; Metabolic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, MD, 20850, USA.
Gapstur SM; Behavioral and Epidemiology Research Group, American Cancer Society, Atlanta, GA, USA.
Gaudet MM; Behavioral and Epidemiology Research Group, American Cancer Society, Atlanta, GA, USA.
Calista D; Department of Dermatology, Maurizio Bufalini Hospital, Cesena, Italy.
Ghiorzo P; Department of Internal Medicine and Medical Specialties, University of Genoa and Genetics of Rare Cancers, IRCCS Ospedale Policinico San Martino, Genoa, Italy.
Fargnoli MC; Department of Dermatology, University of L'Aquila, L'Aquila, Italy.
Nagore E; Department of Dermatology, Instituto Valenciano de Oncologia, Valencia, Spain.
Peris K; Institute of Dermatology, Catholic University - Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy.
Puig S; Dermatology Department, Melanoma Unit, Hospital Clinic de Barcelona, IDIBAPS, Universitat de Barcelona, Barcelona, Spain & Centro de Investigacion Biomedica en Red en Enfermedades Raras (CIBERER), Valencia, Spain.
Landi MT; Integrative Tumor Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, MD, 20850, USA.
Hicks B; Cancer Genomics Research Laboratory, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Leidos Biomedical Research, Inc., Frederick, MD, 21701, USA.
Zhu B; Cancer Genomics Research Laboratory, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Leidos Biomedical Research, Inc., Frederick, MD, 21701, USA.
Liu J; Cancer Genomics Research Laboratory, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Leidos Biomedical Research, Inc., Frederick, MD, 21701, USA.
Sampson JN; Biostatistics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, MD, 20850, USA.
Chanock SJ; Office of the Director, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, MD, 20850, USA.
Mirabello LJ; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, MD, 20850, USA.
Morton LM; Radiation Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, MD, 20850, USA.
Biesecker LG; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, 20892, USA.
Tucker MA; Division of Cancer Epidemiology and Genetics, Human Genetics Program National Cancer Institute, NIH, Rockville, MD, 20850, USA.
Savage SA; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, MD, 20850, USA.
Goldstein AM; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, MD, 20850, USA. .
Stewart DR; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, MD, 20850, USA. .
Pokaż więcej
Źródło:
Genome medicine [Genome Med] 2018 Dec 24; Vol. 10 (1), pp. 99. Date of Electronic Publication: 2018 Dec 24.
Typ publikacji:
Journal Article; Research Support, N.I.H., Intramural
MeSH Terms:
Genetic Predisposition to Disease*
Mutation*
Polymorphism, Single Nucleotide*
Genes, Neoplasm/*genetics
Neoplasms/*genetics
Aged ; Cohort Studies ; DNA Mutational Analysis ; Ethnicity ; Female ; Humans ; Male
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Germline MLH1, MSH2 and MSH6 variants in Brazilian patients with colorectal cancer and clinical features suggestive of Lynch Syndrome.
Autorzy:
Schneider NB; Laboratório de Medicina Genômica, Centro de Pesquisa Experimental, Hospital de Clínicas de Porto Alegre (HCPA) and Programa de Pós Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Brazil.
Pastor T; Genetics Program, Instituto Nacional de Câncer, Rio de Janeiro, Brazil.
Paula AE; Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, Brazil.
Achatz MI; AC Camargo Cancer Center, São Paulo, Brazil.; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, Department of Health and Human Services, National Cancer Institute, National Institutes of Health, Bethesda, Maryland.
Santos ÂRD; Núcleo de Pesquisas Oncológicas and Laboratório de Genética Humana e Médica, Universidade Federal do Pará Universidade Federal do Pará (UFPA), Belém, Brazil.
Vianna FSL; Laboratório de Pesquisa em Bioética e Ética na Ciência- LAPEBEC - Centro de Pesquisa Experimental, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
Rosset C; Laboratório de Medicina Genômica, Centro de Pesquisa Experimental, Hospital de Clínicas de Porto Alegre (HCPA) and Programa de Pós Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Brazil.
Pinheiro M; Serviço de Genética, Instituto Português de Oncologia do Porto (IPO Porto), Porto, Portugal.
Ashton-Prolla P; Laboratório de Medicina Genômica, Centro de Pesquisa Experimental, Hospital de Clínicas de Porto Alegre (HCPA) and Programa de Pós Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Brazil.
Moreira MÂM; Genetics Program, Instituto Nacional de Câncer, Rio de Janeiro, Brazil.
Palmero EI; Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, Brazil.; Barretos School of Health Sciences, Dr. Paulo Prata - FACISB, Barretos, Brazil.
Pokaż więcej
Corporate Authors:
Brazilian Lynch Syndrome Study Group
Źródło:
Cancer medicine [Cancer Med] 2018 May; Vol. 7 (5), pp. 2078-2088. Date of Electronic Publication: 2018 Mar 25.
Typ publikacji:
Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
MeSH Terms:
Colorectal Neoplasms, Hereditary Nonpolyposis/*genetics
DNA-Binding Proteins/*genetics
Epithelial Cell Adhesion Molecule/*genetics
MutL Protein Homolog 1/*genetics
MutS Homolog 2 Protein/*genetics
Adult ; Aged ; Aged, 80 and over ; Brazil ; Female ; Gene Frequency/genetics ; Genetic Predisposition to Disease/genetics ; Genetic Testing ; Germ-Line Mutation/genetics ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Middle Aged ; Young Adult
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis.
Autorzy:
Rosset C; Laboratório de Medicina Genômica - Centro de Pesquisa Experimental - Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil.; Programa de pós-graduação em genética e biologia molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil.
Vairo F; Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil.
Bandeira IC; Laboratório de Medicina Genômica - Centro de Pesquisa Experimental - Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil.
Correia RL; Laboratório de Medicina Genômica - Centro de Pesquisa Experimental - Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil.
de Goes FV; Instituto Fernandes Figueira, Fundação Osvaldo Cruz, Rio de Janeiro, Rio de Janeiro, Brazil.
da Silva RTB; Hospital Universitário Pedro Ernesto, Universidade Estadual do Rio de Janeiro, Rio de Janeiro, Brazil.
Bueno LSM; Complexo Hospitalar Professor Edgard Santos, Salvador, Bahia, Brazil.
de Miranda Gomes MCS; Hospital de Clínicas da Universidade de Campinas, Campinas, São Paulo, Brazil.
Galvão HCR; Hospital do Câncer de Barretos, Barretos, São Paulo, Brazil.
Neri JICF; Centro Especializado em Reabilitação e Habilitação, Natal, Rio Grande do Norte, Brazil.
Achatz MI; A.C. Camargo Cancer Center, São Paulo, São Paulo, Brazil.; Clinical Genetics Branch, Division of Cancer Epidemiology & Genetics, National Cancer Institute, National Institutes of Health, Rockville, United States of America.
Netto CBO; Departamento de Genética - Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil.
Ashton-Prolla P; Laboratório de Medicina Genômica - Centro de Pesquisa Experimental - Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil.; Programa de pós-graduação em genética e biologia molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil.; Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil.; Departamento de Genética - Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil.
Pokaż więcej
Źródło:
PloS one [PLoS One] 2017 Oct 02; Vol. 12 (10), pp. e0185713. Date of Electronic Publication: 2017 Oct 02 (Print Publication: 2017).
Typ publikacji:
Journal Article; Validation Study
MeSH Terms:
Family*
Genetic Predisposition to Disease*
Tuberous Sclerosis/*genetics
Tumor Suppressor Proteins/*genetics
Brazil ; Female ; High-Throughput Nucleotide Sequencing/methods ; Humans ; Male ; Tuberous Sclerosis Complex 1 Protein ; Tuberous Sclerosis Complex 2 Protein
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Germline large genomic alterations on 7q in patients with multiple primary cancers.
Autorzy:
Villacis RA; International Research Center (CIPE), A.C. Camargo Cancer Center, São Paulo, SP, Brazil.; Department of Genetics and Morphology, Institute of Biological Sciences, University of Brasília - UnB, Brasília, DF, Brazil.
Basso TR; International Research Center (CIPE), A.C. Camargo Cancer Center, São Paulo, SP, Brazil.
Canto LM; International Research Center (CIPE), A.C. Camargo Cancer Center, São Paulo, SP, Brazil.
Nóbrega AF; Department of Oncogenetics, A.C. Camargo Cancer Center, São Paulo, Brazil.
Achatz MI; Department of Oncogenetics, A.C. Camargo Cancer Center, São Paulo, Brazil.
Rogatto SR; International Research Center (CIPE), A.C. Camargo Cancer Center, São Paulo, SP, Brazil.; Department of Clinical Genetics, Vejle Hospital, DK and University of Southern Denmark, Denmark.; Department of Urology, Faculty of Medicine, São Paulo State University (UNESP), Botucatu, São Paulo, Brazil.
Pokaż więcej
Źródło:
Scientific reports [Sci Rep] 2017 Jan 31; Vol. 7, pp. 41677. Date of Electronic Publication: 2017 Jan 31.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Chromosome Aberrations*
Chromosomes, Human, Pair 7*
Genomics*/methods
Germ-Line Mutation*
Neoplasms, Multiple Primary/*genetics
Adult ; Female ; Gene Expression Profiling ; Genes, BRCA1 ; Genes, BRCA2 ; Genetic Predisposition to Disease ; Humans ; Male ; Middle Aged ; Mutation ; Pedigree ; Polymorphism, Single Nucleotide ; Transcriptome ; Tumor Suppressor Protein p53/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
A Set of miRNAs, Their Gene and Protein Targets and Stromal Genes Distinguish Early from Late Onset ER Positive Breast Cancer.
Autorzy:
Bastos EP; Oncology and Radiology Department, Laboratory of Medical Investigation 24 (LIM 24), University of Sao Paulo, Medical School, São Paulo, Brazil.
Brentani H; Laboratory of Medical Investigation 23 (LIM 23), Institute and Department of Psychiatry, University of Sao Paulo, Medical School, São Paulo, Brazil.
Pereira CA; Mathematics and Statistic Institute, University of Sao Paulo, São Paulo, Brazil.
Polpo A; Department of Statistics, Federal University of Sao Carlos, São Paulo, Brazil.
Lima L; Laboratory of Medical Investigation 23 (LIM 23), Institute and Department of Psychiatry, University of Sao Paulo, Medical School, São Paulo, Brazil.
Puga RD; Einstein Hospital, São Paulo, Brazil.
Pasini FS; Oncology and Radiology Department, Laboratory of Medical Investigation 24 (LIM 24), University of Sao Paulo, Medical School, São Paulo, Brazil.
Osorio CA; Department of Pathology of A.C. Camargo Cancer Center, São Paulo, Brazil.
Roela RA; Oncology and Radiology Department, Laboratory of Medical Investigation 24 (LIM 24), University of Sao Paulo, Medical School, São Paulo, Brazil.
Achatz MI; Department of Oncogenetics of A.C. Camargo Cancer Center, São Paulo, Brazil.
Trapé AP; Department of Breast Medical Oncology, The University of Texas M.D. Anderson Cancer Center, Houston, TX, United States of America.
Gonzalez-Angulo AM; Department of Breast Medical Oncology, The University of Texas M.D. Anderson Cancer Center, Houston, TX, United States of America.
Brentani MM; Oncology and Radiology Department, Laboratory of Medical Investigation 24 (LIM 24), University of Sao Paulo, Medical School, São Paulo, Brazil.
Pokaż więcej
Źródło:
PloS one [PLoS One] 2016 May 06; Vol. 11 (5), pp. e0154325. Date of Electronic Publication: 2016 May 06 (Print Publication: 2016).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Breast Neoplasms/*pathology
MicroRNAs/*genetics
Receptors, Estrogen/*metabolism
Aged ; Breast Neoplasms/genetics ; Breast Neoplasms/metabolism ; Female ; Gene Expression Profiling ; Humans ; Middle Aged
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Oral and maxillofacial considerations in Gardner's syndrome: a report of two cases.
Autorzy:
Pereira DL; Department of Stomatology, A. C. Camargo Cancer Centre, São Paulo, SP 01509-900, Brazil.
Carvalho PA; Department of Stomatology, A. C. Camargo Cancer Centre, São Paulo, SP 01509-900, Brazil.
Achatz MI; Department of Oncogenetics, A. C. Camargo Cancer Centre, São Paulo, SP 01509-900, Brazil.
Rocha A; Department of Stomatology, A. C. Camargo Cancer Centre, São Paulo, SP 01509-900, Brazil.
TardinTorrezan G; Genomicsand Molecular Biology Laboratory, A. C. Camargo Cancer Centre, São Paulo, SP 01509-900, Brazil.
Alves FA; Department of Stomatology, A. C. Camargo Cancer Centre, São Paulo, SP 01509-900, Brazil; Department of Stomatology, São Paulo University, São Paulo, SP 01509-900, Brazil.
Pokaż więcej
Źródło:
Ecancermedicalscience [Ecancermedicalscience] 2016 Feb 24; Vol. 10, pp. 623. Date of Electronic Publication: 2016 Feb 24 (Print Publication: 2016).
Typ publikacji:
Case Reports
Raport
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Ancestry of the Brazilian TP53 c.1010G>A (p.Arg337His, R337H) Founder Mutation: Clues from Haplotyping of Short Tandem Repeats on Chromosome 17p.
Autorzy:
Paskulin DD; Post-Graduate Program, Genetics and Molecular Biology, Federal University of Rio Grande do Sul, Porto Alegre, Brazil.; Genomic Medicine Laboratory, Experimental Research Center, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil.
Giacomazzi J; Post-Graduate Program, Genetics and Molecular Biology, Federal University of Rio Grande do Sul, Porto Alegre, Brazil.; Genomic Medicine Laboratory, Experimental Research Center, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil.
Achatz MI; Department of Oncogenetics, AC Camargo Cancer Center, Sao Paulo, Brazil.
Costa S; Life and Health Sciences Research Institute, University of Minho, Braga, Portugal; ICVS/3B's-PT Government Associate Laboratory, Braga/Guimarães, Portugal.
Reis RM; Life and Health Sciences Research Institute, University of Minho, Braga, Portugal; ICVS/3B's-PT Government Associate Laboratory, Braga/Guimarães, Portugal.; Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, São Paulo, Brazil.
Hainaut P; International Prevention Research Institute, Lyon and Institut Albert Bonniot/INSERM 823, Grenoble, France.
dos Santos SE; Human and Medical Genetics Laboratory, Biosciences Institute, Federal University of Pará, Belém, Brazil.
Ashton-Prolla P; Post-Graduate Program, Genetics and Molecular Biology, Federal University of Rio Grande do Sul, Porto Alegre, Brazil.; Genomic Medicine Laboratory, Experimental Research Center, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil.; Medical Genetics Service), Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil.
Pokaż więcej
Źródło:
PloS one [PLoS One] 2015 Nov 30; Vol. 10 (11), pp. e0143262. Date of Electronic Publication: 2015 Nov 30 (Print Publication: 2015).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Founder Effect*
Microsatellite Repeats*
Mutation, Missense*
Pedigree*
Chromosomes, Human, Pair 17/*genetics
Li-Fraumeni Syndrome/*genetics
Tumor Suppressor Protein p53/*genetics
Brazil ; Evolution, Molecular ; Haplotypes ; Heterozygote ; Humans
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Xeroderma pigmentosum: low prevalence of germline XPA mutations in a Brazilian XP population.
Autorzy:
Santiago KM; International Research Center, A.C. Camargo Cancer Center, São Paulo, SP 01508-010, Brazil. .; Department of Oncogenetics, A.C. Camargo Cancer Center, São Paulo, SP 01509-900, Brazil. .
França de Nóbrega A; Department of Oncogenetics, A.C. Camargo Cancer Center, São Paulo, SP 01509-900, Brazil. .
Rocha RM; Molecular Morphology Group, Investigative Pathology Department, A.C. Camargo Cancer Center, São Paulo, SP 01509-900, Brazil. .
Rogatto SR; International Research Center, A.C. Camargo Cancer Center, National Institute of Science and Technology in Oncogenomics (INCITO), São Paulo, SP 01508-010, Brazil.; Department of Urology, Faculty of Medicine, University of São Paulo State, Botucatu, SP 18618-970, Brazil.
Achatz MI; Department of Oncogenetics, A.C. Camargo Cancer Center, São Paulo, SP 01509-900, Brazil. .; International Research Center, A.C. Camargo Cancer Center, National Institute of Science and Technology in Oncogenomics (INCITO), São Paulo, SP 01508-010, Brazil. .
Pokaż więcej
Źródło:
International journal of molecular sciences [Int J Mol Sci] 2015 Apr 22; Vol. 16 (4), pp. 8988-96. Date of Electronic Publication: 2015 Apr 22.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Xeroderma Pigmentosum/*genetics
Xeroderma Pigmentosum Group A Protein/*genetics
Adolescent ; Brazil ; DNA Mutational Analysis ; Female ; Germ-Line Mutation ; Humans ; Male ; Prevalence ; Xeroderma Pigmentosum/epidemiology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
DNA Methylation Levels of Melanoma Risk Genes Are Associated with Clinical Characteristics of Melanoma Patients.
Autorzy:
de Araújo ÉS; International Research Center, A.C.Camargo Cancer Center, Rua Taguá 440, 01508010 São Paulo, SP, Brazil.
Pramio DT; International Research Center, A.C.Camargo Cancer Center, Rua Taguá 440, 01508010 São Paulo, SP, Brazil.
Kashiwabara AY; Federal Technological University of Paraná, Avenida Alberto Carazzai 1640, 86300000 Cornélio Procópio, PR, Brazil.
Pennacchi PC; School of Pharmaceutical Sciences, University of São Paulo, Avenida Professor Lineu Prestes 580, 05508000 São Paulo, SP, Brazil.
Maria-Engler SS; School of Pharmaceutical Sciences, University of São Paulo, Avenida Professor Lineu Prestes 580, 05508000 São Paulo, SP, Brazil.
Achatz MI; International Research Center, A.C.Camargo Cancer Center, Rua Taguá 440, 01508010 São Paulo, SP, Brazil ; Department of Oncogenetics, A.C.Camargo Cancer Center, Rua Professor Antônio Prudente 211, 01509010 São Paulo, SP, Brazil.
Campos AH; Department of Pathology, A.C.Camargo Cancer Center, Rua Professor Antônio Prudente 211, 01509010 São Paulo, SP, Brazil.
Duprat JP; Skin Cancer Department, A.C.Camargo Cancer Center, Rua Professor Antônio Prudente 211, 01509010 São Paulo, SP, Brazil.
Rosenberg C; Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, Rua do Matão 277, 05508090 São Paulo, SP, Brazil.
Carraro DM; International Research Center, A.C.Camargo Cancer Center, Rua Taguá 440, 01508010 São Paulo, SP, Brazil.
Krepischi AC; International Research Center, A.C.Camargo Cancer Center, Rua Taguá 440, 01508010 São Paulo, SP, Brazil ; Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, Rua do Matão 277, 05508090 São Paulo, SP, Brazil.
Pokaż więcej
Źródło:
BioMed research international [Biomed Res Int] 2015; Vol. 2015, pp. 376423. Date of Electronic Publication: 2015 Apr 12.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Epigenesis, Genetic*
DNA Methylation/*genetics
Melanoma/*genetics
Skin Neoplasms/*genetics
CpG Islands/genetics ; Female ; Genome, Human ; Humans ; Male ; Melanoma/pathology ; Mutation ; Promoter Regions, Genetic ; Risk Factors ; Skin Neoplasms/pathology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Prevalence of the TP53 p.R337H mutation in breast cancer patients in Brazil.
Autorzy:
Giacomazzi J; Genomic Medicine Laboratory, Experimental Research Centre, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Rio Grande do Sul, Brazil; Post-Graduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Rio Grande do Sul, Brazil.
Graudenz MS; Post-Graduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Rio Grande do Sul, Brazil; Pathology Service, HCPA, Porto Alegre, Rio Grande do Sul, Brazil and Instituto de Patologia, Porto Alegre, Rio Grande do Sul, Brazil.
Osorio CA; Pathology Service, Hospital do Câncer AC Camargo (HCACC), São Paulo, São Paulo, Brazil.
Koehler-Santos P; Protein and Molecular Analysis Laboratory, Experimental Research Centre, HCPA, Porto Alegre, Rio Grande do Sul, Brazil.
Palmero EI; Molecular Oncology Research Centre, Hospital do Câncer de Barretos, Barretos, São Paulo, Brazil.
Zagonel-Oliveira M; National Institute of Populational Medical Genetics (INAGEMP), UFRGS, Porto Alegre, Rio Grande do Sul, Brazil.
Michelli RA; Molecular Oncology Research Centre, Hospital do Câncer de Barretos, Barretos, São Paulo, Brazil.
Scapulatempo Neto C; Molecular Oncology Research Centre, Hospital do Câncer de Barretos, Barretos, São Paulo, Brazil.
Fernandes GC; Molecular Oncology Research Centre, Hospital do Câncer de Barretos, Barretos, São Paulo, Brazil.
Achatz MI; Oncogenetics Department, HCACC, São Paulo, São Paulo, Brazil.
Martel-Planche G; International Agency for Research on Cancer (IARC), Lyon, Rhone, France.
Soares FA; Pathology Service, Hospital do Câncer AC Camargo (HCACC), São Paulo, São Paulo, Brazil.
Caleffi M; Hospital Moinhos de Vento, Porto Alegre, Rio Grande do Sul, Brazil.
Goldim JR; Bioethics Research Laboratory, HCPA, Porto Alegre, Rio Grande do Sul, Brazil.
Hainaut P; International Agency for Research on Cancer (IARC), Lyon, Rhone, France; International Prevention Research Institute, Lyon, Rhone, France.
Camey SA; Department of Statistics, Institute of Mathematics, UFRGS, Porto Alegre, Rio Grande do Sul, Brazil.
Ashton-Prolla P; Genomic Medicine Laboratory, Experimental Research Centre, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Rio Grande do Sul, Brazil; Post-Graduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Rio Grande do Sul, Brazil; National Institute of Populational Medical Genetics (INAGEMP), UFRGS, Porto Alegre, Rio Grande do Sul, Brazil; Post-Graduate Program in Genetics and Molecular Biology, UFRGS, Porto Alegre, Rio Grande do Sul, Brazil.
Pokaż więcej
Źródło:
PloS one [PLoS One] 2014 Jun 17; Vol. 9 (6), pp. e99893. Date of Electronic Publication: 2014 Jun 17 (Print Publication: 2014).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation, Missense*
Breast Neoplasms/*genetics
Tumor Suppressor Protein p53/*genetics
Adult ; Brazil/epidemiology ; Breast Neoplasms/epidemiology ; Female ; Haplotypes ; Humans ; Middle Aged ; Pedigree ; Prevalence
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients.
Autorzy:
Silva FC
Lisboa BC
Figueiredo MC
Torrezan GT
Santos EM
Krepischi AC
Rossi BM
Achatz MI
Carraro DM; Laboratory of Genomics and Molecular Biology, CIPE - A, C, Camargo Cancer Center, São Paulo, Brazil. .
Pokaż więcej
Źródło:
BMC medical genetics [BMC Med Genet] 2014 May 15; Vol. 15, pp. 55. Date of Electronic Publication: 2014 May 15.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
DNA Copy Number Variations*
Point Mutation*
Hereditary Breast and Ovarian Cancer Syndrome/*genetics
Adult ; Aged ; Aged, 80 and over ; Alternative Splicing ; Amino Acid Sequence ; Brazil ; Checkpoint Kinase 2/genetics ; Comparative Genomic Hybridization ; DNA Mutational Analysis ; Exons ; Female ; Gene Dosage ; Genes, BRCA1 ; Genes, BRCA2 ; Genetic Predisposition to Disease ; Germ-Line Mutation ; Hereditary Breast and Ovarian Cancer Syndrome/epidemiology ; Heterozygote ; Humans ; Middle Aged ; Molecular Sequence Data ; Mutation Rate ; RNA Splice Sites ; Transcription, Genetic ; Tumor Suppressor Protein p53/genetics ; Young Adult
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
The profile and contribution of rare germline copy number variants to cancer risk in Li-Fraumeni patients negative for TP53 mutations.
Autorzy:
Silva AG; Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, Rua do Matão, 277-05422-970 São Paulo, São Paulo, Brazil. .
Krepischi AC
Pearson PL
Hainaut P
Rosenberg C
Achatz MI
Pokaż więcej
Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2014 Apr 28; Vol. 9, pp. 63. Date of Electronic Publication: 2014 Apr 28.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
DNA Copy Number Variations*
Genes, p53*
Genetic Predisposition to Disease*
Germ-Line Mutation*
Li-Fraumeni Syndrome/*complications
Neoplasms/*complications
Humans ; Li-Fraumeni Syndrome/genetics ; Neoplasms/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Does germ-line deletion of the PIP gene constitute a widespread risk for cancer?
Autorzy:
Silva AG; A.C. Camargo Cancer Center, São Paulo, Brazil.
Krepischi AC; A.C. Camargo Cancer Center, São Paulo, Brazil.
Torrezan GT; A.C. Camargo Cancer Center, São Paulo, Brazil.
Capelli LP; A.C. Camargo Cancer Center, São Paulo, Brazil.
Carraro DM; A.C. Camargo Cancer Center, São Paulo, Brazil.
D'Angelo CS; Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil.
Koiffmann CP; Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil.
Zatz M; Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil.
Naslavsky MS; Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil.
Masotti C; Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil.
Otto PA; Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil.
Achatz MI; A.C. Camargo Cancer Center, São Paulo, Brazil.
Mills RE; 1] Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA [2] Department of Computational Medicine & Bioinformatics, University of Michigan Medical School, Ann Arbor, MI, USA.
Lee C; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Pearson PL; Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil.
Rosenberg C; Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil.
Pokaż więcej
Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2014 Mar; Vol. 22 (3), pp. 307-9. Date of Electronic Publication: 2013 Jun 19.
Typ publikacji:
Letter; Research Support, Non-U.S. Gov't
MeSH Terms:
Germ-Line Mutation*
Adenomatous Polyposis Coli/*genetics
Carrier Proteins/*genetics
Glycoproteins/*genetics
Li-Fraumeni Syndrome/*genetics
Adenomatous Polyposis Coli/diagnosis ; Adolescent ; Adult ; Age of Onset ; Aged ; Case-Control Studies ; Child ; DNA Copy Number Variations ; Gene Deletion ; Genetic Predisposition to Disease ; Humans ; Membrane Transport Proteins ; Middle Aged ; Receptors, Cell Surface/genetics ; Tumor Suppressor Protein p53/genetics
Raport
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Wyświetlanie 1-20 z 25

Ta witryna wykorzystuje pliki cookies do przechowywania informacji na Twoim komputerze. Pliki cookies stosujemy w celu świadczenia usług na najwyższym poziomie, w tym w sposób dostosowany do indywidualnych potrzeb. Korzystanie z witryny bez zmiany ustawień dotyczących cookies oznacza, że będą one zamieszczane w Twoim komputerze. W każdym momencie możesz dokonać zmiany ustawień dotyczących cookies