Temat: "LI-Fraumeni syndrome" - OpacWWW

Skocz do pozycji: 1.

Tytuł:: Cancer Precision-Prevention trial of Metformin in adults with Li Fraumeni syndrome (MILI) undergoing yearly MRI surveillance: a randomised controlled trial protocol.
Autorzy:: Dixon-Zegeye M; Department of Oncology, University of Oxford, Old Road Campus Research Building, Oxford, OX3 7DQ, UK.
Shaw R; Oncology Clinical Trials Office, University of Oxford, Old Road Campus Research Building, Oxford, UK.
Collins L; Oncology Clinical Trials Office, University of Oxford, Old Road Campus Research Building, Oxford, UK.
Perez-Smith K; Trial Support Unit, Department of Oncology, University of Oxford, Old Road Campus Research Building, Oxford, UK.
Ooms A; Centre for Statistics in Medicine and Oxford Clinical Trials Research Unit (OCTRU), Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, Headington, Oxford, UK.
Qiao M; Centre for Statistics in Medicine and Oxford Clinical Trials Research Unit (OCTRU), Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, Headington, Oxford, UK.
Pantziarka P; George Pantziarka TP53 Trust, 7 Surbiton Cres, Kingston upon Thames, UK.
Izatt L; Guy's and St Thomas' NHS Foundation Trust, Great Maze Pond, London, UK.
Tischkowitz M; Department of Medical Genetics, National Institute for Health Research Cambridge Biomedical Research Centre, Cambridge, UK.
Harrison RE; Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, Hucknall Rd, Nottingham, UK.
George A; Royal Marsden Hospital, Fulham Road, London, UK.
Woodward ER; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.
Lord S; Department of Oncology, University of Oxford, Old Road Campus Research Building, Oxford, OX3 7DQ, UK.
Hawkes L; Oxford Centre for Genomic Medicine, ACE building, Nuffield Orthopaedic Centre, Windmill Road, Headington, Oxford, UK.
Evans DG; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.
Franklin J; Institute of Medical Imaging and Visualisation, Bournemouth University, St Pauls Lane, Bournemouth, UK.
Hanson H; Peninsula Clinical Genetics Service, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK.; Faculty of Health and Life Sciences, University of Exeter, Heavitree Road, Exeter, UK.
Blagden SP; Department of Oncology, University of Oxford, Old Road Campus Research Building, Oxford, OX3 7DQ, UK. .; Oncology Clinical Trials Office, University of Oxford, Old Road Campus Research Building, Oxford, UK. .; Pokaż więcej
Źródło:: Trials [Trials] 2024 Feb 03; Vol. 25 (1), pp. 103. Date of Electronic Publication: 2024 Feb 03.
Typ publikacji:: Clinical Trial Protocol; Journal Article
MeSH Terms:: Li-Fraumeni Syndrome*/diagnostic imaging
Li-Fraumeni Syndrome*/genetics
Li-Fraumeni Syndrome*/prevention & control
Metformin*/adverse effects
Adult ; Humans ; Mice ; Animals ; Quality of Life ; Germ-Line Mutation ; Magnetic Resonance Imaging ; Genetic Predisposition to Disease ; Randomized Controlled Trials as Topic ; Clinical Trials, Phase II as Topic

Czasopismo naukowe

na półce

Pełny tekst Pełny tekst Szczegóły

Skocz do pozycji: 2.

Tytuł:: Pediatric-type high-grade gliomas with PDGFRA amplification in adult patients with Li-Fraumeni syndrome: clinical and molecular characterization of three cases.
Autorzy:: Kibe Y; Department of Neurosurgery, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8550, Japan.
Ohka F; Department of Neurosurgery, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8550, Japan. .
Aoki K; Department of Neurosurgery, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8550, Japan.
Yamaguchi J; Department of Neurosurgery, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8550, Japan.
Motomura K; Department of Neurosurgery, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8550, Japan.
Ito E; Department of Neurosurgery, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8550, Japan.
Takeuchi K; Department of Neurosurgery, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8550, Japan.
Nagata Y; Department of Neurosurgery, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8550, Japan.
Ito S; Department of Neurosurgery, Konan Kosei Hospital, 137 Oomatsubara, Takaya-cho, Konan, 483-8703, Japan.
Mizutani N; Department of Neurosurgery, Konan Kosei Hospital, 137 Oomatsubara, Takaya-cho, Konan, 483-8703, Japan.
Shiba Y; Department of Neurosurgery, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8550, Japan.
Maeda S; Department of Neurosurgery, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8550, Japan.
Nishikawa T; Department of Neurosurgery, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8550, Japan.
Shimizu H; Department of Neurosurgery, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8550, Japan.
Saito R; Department of Neurosurgery, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8550, Japan.; Pokaż więcej
Źródło:: Acta neuropathologica communications [Acta Neuropathol Commun] 2024 Apr 11; Vol. 12 (1), pp. 57. Date of Electronic Publication: 2024 Apr 11.
Typ publikacji:: Journal Article
MeSH Terms:: Glioblastoma*/genetics
Glioblastoma*/pathology
Li-Fraumeni Syndrome*/genetics
Brain Neoplasms*/genetics
Brain Neoplasms*/pathology
Glioma*/genetics
Glioma*/pathology
Cerebellar Neoplasms*/genetics
Adult ; Humans ; Child ; Genes, p53 ; Mutation/genetics ; Isocitrate Dehydrogenase/genetics

Czasopismo naukowe

na półce

Pełny tekst Pełny tekst Szczegóły

Skocz do pozycji: 3.

Tytuł:: Phenotype analysis of families with TP53 germline variants at the Center for Familial Breast and Ovarian Cancer, Cologne.
Autorzy:: Kast K; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany.
Rhiem K; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany.
Larsen M; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany.
Wappenschmidt B; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany.
Schmutzler R; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany.; Pokaż więcej
Źródło:: Cancer medicine [Cancer Med] 2024 Feb; Vol. 13 (3), pp. e6920. Date of Electronic Publication: 2024 Jan 17.
Typ publikacji:: Journal Article
MeSH Terms:: Ovarian Neoplasms*/epidemiology
Ovarian Neoplasms*/genetics
Li-Fraumeni Syndrome*/epidemiology
Li-Fraumeni Syndrome*/genetics
Breast Neoplasms*
Humans ; Female ; Tumor Suppressor Protein p53/genetics ; Phenotype ; Breast ; Germ Cells
SCR Disease Name:: Breast Cancer, Familial

Czasopismo naukowe

na półce

Pełny tekst Pełny tekst Szczegóły

Skocz do pozycji: 4.

Tytuł:: Epithelioid angiomyolipoma of the liver in a patient with Li-Fraumeni syndrome: a case report.
Autorzy:: Yang Y; Departments of Internal Medicine, Chungbuk National University Hospital, Chungbuk National University College of Medicine, Cheongju, Republic of Korea.
Lee J; Department of Radiology, Chungbuk National University Hospital, Chungbuk National University College of Medicine, Cheongju, Republic of Korea.
Woo CG; Department of Pathology, Chungbuk National University Hospital, Chungbuk National University College of Medicine, 1, Chungdae-Ro, Seowon-Gu, Cheongju, 28644, Republic of Korea.
Lee OJ; Department of Pathology, Chungbuk National University Hospital, Chungbuk National University College of Medicine, 1, Chungdae-Ro, Seowon-Gu, Cheongju, 28644, Republic of Korea.
Son SM; Department of Pathology, Chungbuk National University Hospital, Chungbuk National University College of Medicine, 1, Chungdae-Ro, Seowon-Gu, Cheongju, 28644, Republic of Korea. .; Pokaż więcej
Źródło:: Diagnostic pathology [Diagn Pathol] 2024 Jan 19; Vol. 19 (1), pp. 16. Date of Electronic Publication: 2024 Jan 19.
Typ publikacji:: Case Reports; Journal Article
MeSH Terms:: Li-Fraumeni Syndrome*/complications
Li-Fraumeni Syndrome*/diagnosis
Li-Fraumeni Syndrome*/genetics
Angiomyolipoma*/diagnosis
Angiomyolipoma*/genetics
Angiomyolipoma*/pathology
Liver Neoplasms*/diagnosis
Liver Neoplasms*/genetics
Kidney Neoplasms*/pathology
Breast Neoplasms*
Pancreatic Neoplasms*
Female ; Humans ; Middle Aged ; Genetic Predisposition to Disease

Czasopismo naukowe

na półce

Pełny tekst Pełny tekst Szczegóły

Skocz do pozycji: 5.

Tytuł:: Clinical Features of Li-Fraumeni Syndrome in Korea.
Autorzy:: Song R; Department of Surgery, Center of Breast Cancer, National Cancer Center, Goyang, Korea.
Kong SY; Department of Laboratory Medicine, National Cancer Center, Goyang, Korea.
Choi W; Center of Rare Cancers, National Cancer Center, Goyang, Korea.
Lee EG; Department of Surgery, Center of Breast Cancer, National Cancer Center, Goyang, Korea.
Woo J; Department of Surgery, Center of Breast Cancer, National Cancer Center, Goyang, Korea.
Han JH; Department of Surgery, Center of Breast Cancer, National Cancer Center, Goyang, Korea.
Lee S; Department of Surgery, Center of Breast Cancer, National Cancer Center, Goyang, Korea.
Kang HS; Department of Surgery, Center of Breast Cancer, National Cancer Center, Goyang, Korea.
Jung SY; Department of Surgery, Center of Breast Cancer, National Cancer Center, Goyang, Korea.; Pokaż więcej
Źródło:: Cancer research and treatment [Cancer Res Treat] 2024 Jan; Vol. 56 (1), pp. 334-341. Date of Electronic Publication: 2023 Aug 09.
Typ publikacji:: Journal Article
MeSH Terms:: Li-Fraumeni Syndrome*/epidemiology
Li-Fraumeni Syndrome*/genetics
Li-Fraumeni Syndrome*/diagnosis
Breast Neoplasms*/genetics
Pancreatic Neoplasms*
Leukemia*
Female ; Humans ; Adult ; Retrospective Studies ; Tumor Suppressor Protein p53/genetics ; Republic of Korea/epidemiology

Czasopismo naukowe

na półce

Pełny tekst Szczegóły

Skocz do pozycji: 6.

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

na półce

Pełny tekst Pełny tekst Szczegóły

Skocz do pozycji: 7.

Tytuł:: Challenging interpretation of germline TP53 variants based on the experience of a national comprehensive cancer centre.
Autorzy:: Butz H; Department of Molecular Genetics and the National Tumour Biology Laboratory, National Institute of Oncology, Comprehensive Cancer Center, Budapest, Hungary. .; Department of Oncology Biobank, National Institute of Oncology, Comprehensive Cancer Center, Budapest, Hungary. .; Hereditary Tumours Research Group, Eötvös Loránd Research Network, Budapest, Hungary. .; Department of Laboratory Medicine, Semmelweis University, Budapest, Hungary. .
Bozsik A; Department of Molecular Genetics and the National Tumour Biology Laboratory, National Institute of Oncology, Comprehensive Cancer Center, Budapest, Hungary.; Hereditary Tumours Research Group, Eötvös Loránd Research Network, Budapest, Hungary.
Grolmusz V; Department of Molecular Genetics and the National Tumour Biology Laboratory, National Institute of Oncology, Comprehensive Cancer Center, Budapest, Hungary.; Hereditary Tumours Research Group, Eötvös Loránd Research Network, Budapest, Hungary.
Szőcs E; Department of Oncology Biobank, National Institute of Oncology, Comprehensive Cancer Center, Budapest, Hungary.
Papp J; Department of Molecular Genetics and the National Tumour Biology Laboratory, National Institute of Oncology, Comprehensive Cancer Center, Budapest, Hungary.; Hereditary Tumours Research Group, Eötvös Loránd Research Network, Budapest, Hungary.
Patócs A; Department of Molecular Genetics and the National Tumour Biology Laboratory, National Institute of Oncology, Comprehensive Cancer Center, Budapest, Hungary.; Hereditary Tumours Research Group, Eötvös Loránd Research Network, Budapest, Hungary.; Department of Laboratory Medicine, Semmelweis University, Budapest, Hungary.; Pokaż więcej
Źródło:: Scientific reports [Sci Rep] 2023 Aug 31; Vol. 13 (1), pp. 14259. Date of Electronic Publication: 2023 Aug 31.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Li-Fraumeni Syndrome*/epidemiology
Li-Fraumeni Syndrome*/genetics
Humans ; Genetic Counseling ; Genetic Testing ; Germ-Line Mutation ; Germ Cells ; Tumor Suppressor Protein p53/genetics

Czasopismo naukowe

na półce

Pełny tekst Pełny tekst Szczegóły

Skocz do pozycji: 8.

Tytuł:: First case of endometrial cancer after yolk sac tumor in a patient with Li-Fraumeni syndrome.
Autorzy:: Ye QL; Department of Obstetrics and Gynecology, Shengjing Hospital of China Medical University, No.36 Sanhao Street, Heping District, Shenyang, 110004, Liaoning, China.
Qi Y; Department of Obstetrics and Gynecology, Shengjing Hospital of China Medical University, No.36 Sanhao Street, Heping District, Shenyang, 110004, Liaoning, China.
Liu JJ; Department of Obstetrics and Gynecology, Shengjing Hospital of China Medical University, No.36 Sanhao Street, Heping District, Shenyang, 110004, Liaoning, China.
Hu YX; Department of Obstetrics and Gynecology, Shengjing Hospital of China Medical University, No.36 Sanhao Street, Heping District, Shenyang, 110004, Liaoning, China.
Lv Y; Department of Obstetrics and Gynecology, Shengjing Hospital of China Medical University, No.36 Sanhao Street, Heping District, Shenyang, 110004, Liaoning, China.
Lin B; Department of Obstetrics and Gynecology, Shengjing Hospital of China Medical University, No.36 Sanhao Street, Heping District, Shenyang, 110004, Liaoning, China. .; Pokaż więcej
Źródło:: BMC women's health [BMC Womens Health] 2023 Jun 21; Vol. 23 (1), pp. 329. Date of Electronic Publication: 2023 Jun 21.
Typ publikacji:: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Li-Fraumeni Syndrome*/complications
Li-Fraumeni Syndrome*/genetics
Li-Fraumeni Syndrome*/diagnosis
Endodermal Sinus Tumor*/complications
Endodermal Sinus Tumor*/genetics
Endometrial Neoplasms*/complications
Endometrial Neoplasms*/genetics
Female ; Humans ; Young Adult ; Adult ; Middle Aged ; Genes, p53 ; Germ-Line Mutation ; Genetic Predisposition to Disease

Czasopismo naukowe

na półce

Pełny tekst Pełny tekst Szczegóły

Skocz do pozycji: 9.

Tytuł:: Peripheral precocious puberty in Li-Fraumeni syndrome: a case report and literature review of pure androgen-secreting adrenocortical tumors.
Autorzy:: Ryckx S; Division of Pediatric Endocrinology and Diabetology, Department of Pediatrics, ZNA Queen Paola Child Hospital, Lindendreef 1, 2020, Antwerp, Belgium. .; Division of Pediatric Endocrinology, Department of Pediatrics, Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Laarbeeklaan 101, 1090, Brussels, Belgium. .
De Schepper J; Division of Pediatric Endocrinology, Department of Pediatrics, Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Laarbeeklaan 101, 1090, Brussels, Belgium.
Giron P; Centre for Medical Genetics, Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Brussels, Belgium.
Maes K; Centre for Medical Genetics, Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Brussels, Belgium.
Vaeyens F; Centre for Medical Genetics, Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Brussels, Belgium.
Wilgenhof K; Department of Pathology, Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Brussels, Belgium.
Lefesvre P; Department of Pathology, Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Brussels, Belgium.
Ernst C; Department of Radiology, Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Brussels, Belgium.
Vanderlinden K; Division of Pediatric Surgery, Department of Surgery, Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Brussels, Belgium.
Klink D; Division of Pediatric Endocrinology and Diabetology, Department of Pediatrics, ZNA Queen Paola Child Hospital, Lindendreef 1, 2020, Antwerp, Belgium.
Hes F; Centre for Medical Genetics, Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Brussels, Belgium.
Vanbesien J; Division of Pediatric Endocrinology, Department of Pediatrics, Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Laarbeeklaan 101, 1090, Brussels, Belgium.
Gies I; Division of Pediatric Endocrinology, Department of Pediatrics, Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Laarbeeklaan 101, 1090, Brussels, Belgium.
Staels W; Division of Pediatric Endocrinology, Department of Pediatrics, Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Laarbeeklaan 101, 1090, Brussels, Belgium.; Beta Cell Neogenesis (BENE) Research Group, Vrije Universiteit Brussel (VUB), Brussels, Belgium.; Pokaż więcej
Źródło:: Journal of medical case reports [J Med Case Rep] 2023 May 14; Vol. 17 (1), pp. 195. Date of Electronic Publication: 2023 May 14.
Typ publikacji:: Review; Case Reports; Journal Article
MeSH Terms:: Li-Fraumeni Syndrome*/complications
Li-Fraumeni Syndrome*/diagnosis
Li-Fraumeni Syndrome*/genetics
Puberty, Precocious*/etiology
Adrenal Cortex Neoplasms*/complications
Adrenal Cortex Neoplasms*/genetics
Male ; Child ; Humans ; Child, Preschool ; Genes, p53 ; Androgens
SCR Disease Name:: Familial Testotoxicosis

Czasopismo naukowe

na półce

Pełny tekst Pełny tekst Szczegóły

Skocz do pozycji: 10.

Tytuł:: How do young people with a hereditary cancer predisposition syndrome understand and experience cancer survivorship? "With Li-Fraumeni syndrome, it's just an intermission".
Autorzy:: Werner-Lin A; School of Social Policy and Practice, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Forbes Shepherd R; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, USA.
Rising CJ; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, USA.
Thompson AS; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, USA.
Huelsnitz C; Behavioral Research Program, Division of Cancer Control and Population Sciences, National Cancer Institute, National Institutes of Health, Rockville, Maryland, USA.
Wilsnack C; Steve Hicks School of Social Work, University of Texas at Austin, Austin, Texas, USA.
Boyd P; Behavioral Research Program, Division of Cancer Control and Population Sciences, National Cancer Institute, National Institutes of Health, Rockville, Maryland, USA.
Sleight AG; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, USA.; Department of Physical Medicine and Rehabilitation, Cedars-Sinai Medical Center, Los Angeles, California, USA.
Hutson S; Department of Nursing, University of Tennessee, Knoxville, Tennessee, USA.
Khincha PP; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, USA.; Pokaż więcej
Źródło:: Psycho-oncology [Psychooncology] 2023 Mar; Vol. 32 (3), pp. 375-382. Date of Electronic Publication: 2023 Jan 03.
Typ publikacji:: Clinical Trial; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Cancer Survivors*/psychology
Li-Fraumeni Syndrome*/diagnosis
Li-Fraumeni Syndrome*/psychology
Neoplasms*/psychology
Adolescent ; Humans ; Young Adult ; Emotions ; Genetic Predisposition to Disease ; Survivors

Czasopismo naukowe

na półce

Pełny tekst Pełny tekst Szczegóły

Skocz do pozycji: 11.

Tytuł:: Rectal leiomyosarcoma as the initial phenotypic manifestation of Li-Fraumeni-like syndrome: a case report and review of the literature.
Autorzy:: Severino NP; Surgery Department, Hospital do Servidor Público Estadual de São Paulo, São Paulo, SP, Brazil. .
Waisberg J; Surgery Department, Faculdade de Medicina do ABC, Santo André, SP, Brazil.; Teaching and Research Development Center, Hospital do Servidor Público Estadual de São Paulo, São Paulo, SP, Brazil.
Fragoso MCBV; Oncology Department, Instituto do Câncer do Estado de São Paulo, São Paulo, SP, Brazil.
de Lima LGCA; Pathology Department, Instituto do Câncer do Estado de São Paulo, São Paulo, SP, Brazil.
Balsamo F; Surgery Department, Faculdade de Medicina do ABC, Santo André, SP, Brazil.
Henriques AC; Surgery Department, Faculdade de Medicina do ABC, Santo André, SP, Brazil.
Bianco B; Human Reproduction and Genetics Department, Faculdade de Medicina do ABC, Santo André, SP, Brazil.
de Sousa Gehrke F; Pathology Department, Faculdade de Medicina do ABC, Santo André, SP, Brazil.; Pokaż więcej
Źródło:: Journal of medical case reports [J Med Case Rep] 2022 Dec 19; Vol. 16 (1), pp. 468. Date of Electronic Publication: 2022 Dec 19.
Typ publikacji:: Review; Case Reports; Journal Article
MeSH Terms:: Li-Fraumeni Syndrome*/complications
Li-Fraumeni Syndrome*/diagnosis
Li-Fraumeni Syndrome*/genetics
Leiomyosarcoma*/diagnosis
Leiomyosarcoma*/genetics
Leiomyosarcoma*/surgery
Adrenocortical Carcinoma*
Pelvic Neoplasms*
Rectal Neoplasms*/diagnosis
Rectal Neoplasms*/genetics
Rectal Neoplasms*/surgery
Adrenal Cortex Neoplasms*/complications
Adrenal Cortex Neoplasms*/genetics
Male ; Female ; Humans ; Child ; Aged ; Tumor Suppressor Protein p53/genetics ; Genetic Predisposition to Disease
SCR Disease Name:: Li-Fraumeni-Like Syndrome; Li-Fraumeni Syndrome 2

Czasopismo naukowe

na półce

Pełny tekst Pełny tekst Szczegóły

Skocz do pozycji: 12.

Tytuł:: Comprehensive genomic profiling of a unique liposarcoma arising in a patient with Li-Fraumeni syndrome and the novel detection of c-myc amplification: a case report.
Autorzy:: Watanabe H; Department of Pathology, Tohoku University Hospital, 1-1 Seiryo-machi, Aoba-ku, Miyagi-ken, Sendai, Japan. .
Fujishima F; Department of Pathology, Tohoku University Hospital, 1-1 Seiryo-machi, Aoba-ku, Miyagi-ken, Sendai, Japan.
Motoi T; Department of Pathology, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, Tokyo, Japan.
Aoyama Y; Department of Pathology, Tohoku University Hospital, 1-1 Seiryo-machi, Aoba-ku, Miyagi-ken, Sendai, Japan.
Niihori T; Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan.
Takahashi M; Department of Medical Oncology, Tohoku University Hospital, Sendai, Japan.
Umegaki S; Department of Medical Oncology, Tohoku University Hospital, Sendai, Japan.
Oishi H; Department of Thoracic Surgery, Institute of Development, Aging and Cancer, Tohoku University, Sendai, Japan.
Tada H; Department of Breast and Endocrine Surgical Oncology, Graduate School of Medicine, Tohoku University, Sendai, Japan.
Ichinohasama R; Department of Hematopathology, Tohoku University Hospital, Sendai, Japan.
Sasano H; Department of Pathology, Tohoku University Hospital, 1-1 Seiryo-machi, Aoba-ku, Miyagi-ken, Sendai, Japan.; Pokaż więcej
Źródło:: Diagnostic pathology [Diagn Pathol] 2022 Dec 13; Vol. 17 (1), pp. 93. Date of Electronic Publication: 2022 Dec 13.
Typ publikacji:: Case Reports; Journal Article
MeSH Terms:: Li-Fraumeni Syndrome*/complications
Li-Fraumeni Syndrome*/diagnosis
Li-Fraumeni Syndrome*/genetics
Liposarcoma*/diagnosis
Liposarcoma*/genetics
Liposarcoma*/pathology
Liposarcoma, Myxoid*/diagnosis
Liposarcoma, Myxoid*/genetics
Liposarcoma, Myxoid*/pathology
Lipoma*/pathology
Female ; Humans ; Adult ; In Situ Hybridization, Fluorescence ; Genomics ; Proto-Oncogene Proteins c-mdm2/genetics ; Proto-Oncogene Proteins c-mdm2/analysis

Czasopismo naukowe

na półce

Pełny tekst Pełny tekst Szczegóły

Skocz do pozycji: 13.

Tytuł:: Pediatric high-grade glioma MYCN is frequently associated with Li-Fraumeni syndrome.
Autorzy:: Guerrini-Rousseau L; Department of Child and Adolescents Oncology, Gustave Roussy, Université Paris-Saclay, 94805, Villejuif, France.; Molecular Predictors and New Targets in Oncology, INSERM U981, Gustave Roussy, Université Paris-Saclay, 94805, Villejuif, France.
Tauziède-Espariat A; Department of Neuropathology, GHU Paris-Psychiatrie et Neurosciences, Sainte-Anne Hospital, 1, rue Cabanis, 75014, Paris, France. .; Inserm, UMR 1266, IMA-Brain, Institut de Psychiatrie et Neurosciences de Paris, Paris, France. .
Castel D; Molecular Predictors and New Targets in Oncology, INSERM U981, Gustave Roussy, Université Paris-Saclay, 94805, Villejuif, France.
Rouleau E; Department of Biology and Pathology, Tumor Genetics Service, Gustave Roussy, Université Paris-Saclay, 94805, Villejuif, France.
Sievers P; Department of Neuropathology, Institute of Pathology, University Hospital Heidelberg, Heidelberg, Germany.; Clinical Cooperation Unit Neuropathology, German Consortium for Translational Cancer Research (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany.
Saffroy R; Department of Biochemistry and Oncogenetic, Paul Brousse Hospital, 94804, Villejuif, France.
Beccaria K; Department of Pediatric Neurosurgery, Necker Hospital, APHP, Université Paris Cité, 75015, Paris, France.
Blauwblomme T; Department of Pediatric Neurosurgery, Necker Hospital, APHP, Université Paris Cité, 75015, Paris, France.
Hasty L; Department of Neuropathology, GHU Paris-Psychiatrie et Neurosciences, Sainte-Anne Hospital, 1, rue Cabanis, 75014, Paris, France.
Bourdeaut F; INSERM U830, Laboratory of Translational Research in Pediatric Oncology, SIREDO Pediatric Oncology Center, Curie Institute, Paris, France.
Grill J; Department of Child and Adolescents Oncology, Gustave Roussy, Université Paris-Saclay, 94805, Villejuif, France.; Molecular Predictors and New Targets in Oncology, INSERM U981, Gustave Roussy, Université Paris-Saclay, 94805, Villejuif, France.
Varlet P; Department of Neuropathology, GHU Paris-Psychiatrie et Neurosciences, Sainte-Anne Hospital, 1, rue Cabanis, 75014, Paris, France.; Inserm, UMR 1266, IMA-Brain, Institut de Psychiatrie et Neurosciences de Paris, Paris, France.
Debily MA; Molecular Predictors and New Targets in Oncology, INSERM U981, Gustave Roussy, Université Paris-Saclay, 94805, Villejuif, France.; Univ. Evry, Université Paris-Saclay, 91000, Evry, France.; Pokaż więcej
Źródło:: Acta neuropathologica communications [Acta Neuropathol Commun] 2023 Jan 06; Vol. 11 (1), pp. 3. Date of Electronic Publication: 2023 Jan 06.
Typ publikacji:: Letter; Research Support, Non-U.S. Gov't
MeSH Terms:: Li-Fraumeni Syndrome*/complications
Li-Fraumeni Syndrome*/genetics
Glioma*/complications
Glioma*/genetics
Child ; Humans ; N-Myc Proto-Oncogene Protein/genetics ; Tumor Suppressor Protein p53/genetics ; Genetic Predisposition to Disease ; Germ-Line Mutation

Raport

na półce

Pełny tekst Pełny tekst Szczegóły

Skocz do pozycji: 14.

Tytuł:: Genotype-phenotype associations within the Li-Fraumeni spectrum: a report from the German Registry.
Autorzy:: Penkert J; Pediatric Hematology and Oncology, Hannover Medical School, Carl-Neuberg Str. 1, 30625, Hannover, Germany.; Department of Human Genetics, Hannover Medical School, Hannover, Germany.
Strüwe FJ; Pediatric Hematology and Oncology, Hannover Medical School, Carl-Neuberg Str. 1, 30625, Hannover, Germany.
Dutzmann CM; Pediatric Hematology and Oncology, Hannover Medical School, Carl-Neuberg Str. 1, 30625, Hannover, Germany.
Doergeloh BB; Pediatric Hematology and Oncology, Hannover Medical School, Carl-Neuberg Str. 1, 30625, Hannover, Germany.
Montellier E; Univ. Grenoble Alpes, Inserm 1209, CNRS 5309, Institute for Advanced Biosciences, F38000, Grenoble, France.
Freycon C; Univ. Grenoble Alpes, Inserm 1209, CNRS 5309, Institute for Advanced Biosciences, F38000, Grenoble, France.; Department of Pediatrics, Grenoble Alpes University Hospital, Grenoble, France.
Keymling M; Division of Radiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Schlemmer HP; Division of Radiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Sänger B; Pediatric Hematology and Oncology, Hannover Medical School, Carl-Neuberg Str. 1, 30625, Hannover, Germany.
Hoffmann B; Pediatric Hematology and Oncology, Hannover Medical School, Carl-Neuberg Str. 1, 30625, Hannover, Germany.
Gerasimov T; Pediatric Hematology and Oncology, Hannover Medical School, Carl-Neuberg Str. 1, 30625, Hannover, Germany.
Blattmann C; Department of Pediatric Oncology, Hematology and Immunology, Olgahospital, Klinikum Stuttgart, Stuttgart, Germany.
Fetscher S; Department of Haematology and Oncology, Sana Hospitals, Lübeck, Germany.
Frühwald M; Paediatric and Adolescent Medicine, University Medical Center Augsburg, Augsburg, Germany.
Hettmer S; Division of Pediatric Hematology and Oncology, Department of Pediatric and Adolescent Medicine, University Medical Center Freiburg, University of Freiburg, Freiburg, Germany.
Kordes U; Department of Pediatric Hematology and Oncology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Ridola V; Department of Pediatric Oncology and Hematology, MITERA Children's Hospital, Athens, Greece.
Kroiss Benninger S; Department of Oncology, University Children's Hospital Zürich, Zurich, Switzerland.
Mastronuzzi A; Department of Haematology, Oncology, Cell Therapy, Gene Therapies and Hemopoietic Transplant, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
Schott S; Department of Obstetrics and Gynecology, University of Heidelberg, Heidelberg, Germany.
Nees J; Department of Obstetrics and Gynecology, University of Heidelberg, Heidelberg, Germany.
Prokop A; Department of Pediatric Hematology/Oncology, Helios Clinic Schwerin, Schwerin, Germany.; Medical School Hamburg (MSH), University of Applied Sciences and Medical University, Hamburg, Germany.; Department of Pediatric Hematology and Oncology, Children's Hospital, Cologne, Germany.
Redlich A; Pediatric Oncology Department, Otto von Guericke University Children's Hospital, Magdeburg, Germany.
Seidel MG; Division of Pediatric Hematology-Oncology, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, Graz, Austria.
Zimmermann S; Pediatric Hematology and Oncology, University Hospital, Frankfurt, Germany.
Pajtler KW; Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.; Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ) and German Cancer Consortium (DKTK), Heidelberg, Germany.; Department of Pediatric Hematology and Oncology, Heidelberg University Hospital, Heidelberg, Germany.
Pfister SM; Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.; Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ) and German Cancer Consortium (DKTK), Heidelberg, Germany.; Department of Pediatric Hematology and Oncology, Heidelberg University Hospital, Heidelberg, Germany.
Hainaut P; Univ. Grenoble Alpes, Inserm 1209, CNRS 5309, Institute for Advanced Biosciences, F38000, Grenoble, France.
Kratz CP; Pediatric Hematology and Oncology, Hannover Medical School, Carl-Neuberg Str. 1, 30625, Hannover, Germany. .; Pokaż więcej
Źródło:: Journal of hematology & oncology [J Hematol Oncol] 2022 Aug 16; Vol. 15 (1), pp. 107. Date of Electronic Publication: 2022 Aug 16.
Typ publikacji:: Letter; Research Support, Non-U.S. Gov't
MeSH Terms:: Adrenal Cortex Neoplasms*/genetics
Adrenocortical Carcinoma*/genetics
Li-Fraumeni Syndrome*/diagnosis
Li-Fraumeni Syndrome*/epidemiology
Li-Fraumeni Syndrome*/genetics
Genetic Association Studies ; Genetic Predisposition to Disease ; Germ-Line Mutation ; Humans ; Registries ; Tumor Suppressor Protein p53/genetics

Raport

na półce

Pełny tekst Pełny tekst Szczegóły

Skocz do pozycji: 15.

Tytuł:: Malignant Perivascular Epithelioid Cell Tumor (PEComa) of the Uterus as Part of the Hereditary Cancer Syndrome: A Case Diagnosed with Multiple Malignancies.
Autorzy:: Caliskan S; Department of Pathology, Ondokuz Mayıs University, Faculty of Medicine, SAMSUN, TURKEY.
Akar OS
Gun S
Kefeli M; Pokaż więcej
Transliterated Title:: Malignant Perivascular Epithelioid Cell Tumor (PEComa) of the Uterus as Part of the Hereditary Cancer Syndrome: A Case Diagnosed with Multiple Malignancies.
Źródło:: Turk patoloji dergisi [Turk Patoloji Derg] 2023; Vol. 39 (3), pp. 212-217.
Typ publikacji:: Case Reports; Journal Article
MeSH Terms:: Li-Fraumeni Syndrome*
Perivascular Epithelioid Cell Neoplasms*/genetics
Perivascular Epithelioid Cell Neoplasms*/pathology
Sarcoma*
Neoplastic Syndromes, Hereditary*/genetics
Female ; Humans ; Adult ; Uterus/pathology

Czasopismo naukowe

na półce

Pełny tekst Szczegóły

Skocz do pozycji: 16.

Tytuł:: Li-Fraumeni syndrome presenting with de novo TP53 mutation, severe phenotype and advanced paternal age: a case report.
Autorzy:: Arango-Ibañez, Juan Pablo (AUTHOR)
Parra-Lara, Luis Gabriel (AUTHOR)
Zambrano, Ángela R. (AUTHOR)
Rodríguez-Rojas, Lisa Ximena (AUTHOR); Pokaż więcej
Źródło:: Hereditary Cancer in Clinical Practice. 1/18/2024, Vol. 22 Issue 1, p1-5. 5p.

Czasopismo naukowe

na półce

Pełny tekst Pełny tekst Szczegóły

Skocz do pozycji: 17.

Tytuł:: Clinical Features of Li-Fraumeni Syndrome in Korea.
Autorzy:: Ran Song
Sun-Young Kong
Wonyoung Choi
Eun-Gyeong Lee
Jaeyeon Woo
Jai Hong Han
Seeyoun Lee
Han-Sung Kang
So-Youn Jung; Pokaż więcej
Źródło:: Cancer Research & Treatment. Jan2024, Vol. 56 Issue 1, p334-341. 8p.

Czasopismo naukowe

na półce

Pełny tekst Szczegóły

Skocz do pozycji: 18.

Tytuł:: Health Behavior and Cancer Prevention among Adults with Li-Fraumeni Syndrome and Relatives in Germany-A Cohort Description.
Autorzy:: Nees J; Department of Gynecology and Obstetrics, University Hospital Heidelberg, Im Neuenheimer Feld 440, 69120 Heidelberg, Germany.
Kiermeier S; Section of Psychosomatic Medicine, Psychotherapy and Psychooncology, Department of Internal Medicine II, Julius-Maximilian University Würzburg, Oberdürrbacher Straße 6, 97080 Würzburg, Germany.
Struewe F; Department of Pediatric Hematology and Oncology, Hannover Medical School, Carl-Neuberg-Str. 1, 30625 Hanover, Germany.
Keymling M; German Cancer Research Center (DKFZ), Department of Radiology, Im Neuenheimer Feld 280, 69120 Heidelberg, Germany.
Maatouk I; Section of Psychosomatic Medicine, Psychotherapy and Psychooncology, Department of Internal Medicine II, Julius-Maximilian University Würzburg, Oberdürrbacher Straße 6, 97080 Würzburg, Germany.
Kratz CP; Department of Pediatric Hematology and Oncology, Hannover Medical School, Carl-Neuberg-Str. 1, 30625 Hanover, Germany.
Schott S; Department of Gynecology and Obstetrics, University Hospital Heidelberg, Im Neuenheimer Feld 440, 69120 Heidelberg, Germany.; Pokaż więcej
Źródło:: Current oncology (Toronto, Ont.) [Curr Oncol] 2022 Oct 15; Vol. 29 (10), pp. 7768-7778. Date of Electronic Publication: 2022 Oct 15.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Li-Fraumeni Syndrome*/genetics
Adult ; Female ; Humans ; Male ; Genetic Predisposition to Disease ; Germ-Line Mutation ; Health Behavior ; Quality of Life ; Tumor Suppressor Protein p53/genetics

Czasopismo naukowe

na półce

Pełny tekst Pełny tekst Szczegóły

Skocz do pozycji: 19.

Tytuł:: TP53 Variant in the Blood of a Patient with Gastric Cancer Undergoing Tumor Profiling Tests Diagnosed as Clonal Hematopoiesis.
Autorzy:: Kawai M; Department of Clinical Genetics, National Hospital Organization Nagoya Medical Center, Nagoya, Aichi, Japan.
Iijima-Yamashita Y; Department of Advanced Diagnosis, Clinical Research Center, National Hospital Organization Nagoya Medical Center, Nagoya, Aichi, Japan.
Taguchi I; Department of Clinical Genetics, National Hospital Organization Nagoya Medical Center, Nagoya, Aichi, Japan.
Kataoka M; Department of Surgery, National Hospital Organization Nagoya Medical Center, Nagoya, Aichi, Japan.
Sanada M; Department of Advanced Diagnosis, Clinical Research Center, National Hospital Organization Nagoya Medical Center, Nagoya, Aichi, Japan.
Murakami Y; Department of Pathology, National Hospital Organization Nagoya Medical Center, Nagoya, Aichi, Japan.
Kitagawa C; Department of Medical Oncology, National Hospital Organization Nagoya Medical Center, Nagoya, Aichi, Japan.
Hattori H; Department of Clinical Genetics, National Hospital Organization Nagoya Medical Center, Nagoya, Aichi, Japan.; Pokaż więcej
Źródło:: The American journal of case reports [Am J Case Rep] 2022 Jun 14; Vol. 23, pp. e936455. Date of Electronic Publication: 2022 Jun 14.
Typ publikacji:: Case Reports; Journal Article
MeSH Terms:: Li-Fraumeni Syndrome*/diagnosis
Li-Fraumeni Syndrome*/genetics
Li-Fraumeni Syndrome*/pathology
Stomach Neoplasms*/diagnosis
Stomach Neoplasms*/genetics
Clonal Hematopoiesis ; Genes, p53/genetics ; Genetic Predisposition to Disease ; Humans ; Male ; Middle Aged ; Tumor Suppressor Protein p53/genetics

Czasopismo naukowe

na półce

Pełny tekst Szczegóły

Skocz do pozycji: 20.

Tytuł:: TP53 Pathogenic Variants in Early-Onset Breast Cancer Patients Fulfilling Hereditary Breast and Ovary Cancer and Li-Fraumeni-like Syndromes.
Autorzy:: da Silva PFF; Laboratory of Molecular Genetics and Cytogenetics, Institute of Biological Sciences I (ICB I), Federal University of Goiás, Goiânia 74690900, Brazil.
Goveia RM; Laboratory of Molecular Genetics and Cytogenetics, Institute of Biological Sciences I (ICB I), Federal University of Goiás, Goiânia 74690900, Brazil.
Teixeira TB; Clinical of Hospital (HC), Federal University of Goiás (UFG), Goiânia 74690900, Brazil.
Gamba BF; Laboratory of Molecular Genetics and Cytogenetics, Institute of Biological Sciences I (ICB I), Federal University of Goiás, Goiânia 74690900, Brazil.
de Lima AP; Laboratory of Molecular Genetics and Cytogenetics, Institute of Biological Sciences I (ICB I), Federal University of Goiás, Goiânia 74690900, Brazil.
Rogatto SR; Department of Clinical Genetics, University Hospital of Southern Denmark, 7100 Vejle, Denmark.; Institute of Regional Health Research, University of Southern Denmark, 5230 Odense, Denmark.
Silveira-Lacerda EP; Laboratory of Molecular Genetics and Cytogenetics, Institute of Biological Sciences I (ICB I), Federal University of Goiás, Goiânia 74690900, Brazil.; Pokaż więcej
Źródło:: Biomolecules [Biomolecules] 2022 Apr 27; Vol. 12 (5). Date of Electronic Publication: 2022 Apr 27.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Breast Neoplasms*/epidemiology
Breast Neoplasms*/genetics
Li-Fraumeni Syndrome*/epidemiology
Li-Fraumeni Syndrome*/genetics
Ovarian Neoplasms*/epidemiology
Ovarian Neoplasms*/genetics
Female ; Germ-Line Mutation ; Humans ; Syndrome ; Tumor Suppressor Protein p53/genetics
SCR Disease Name:: Li-Fraumeni-Like Syndrome

Czasopismo naukowe

na półce

Pełny tekst Pełny tekst Szczegóły

Informacja

Wyszukujesz frazę ""LI-Fraumeni syndrome"" wg kryterium: Temat

Źródło danych

Ogranicz do:

Ogranicz do bazy

Typ dokumentu

Temat

Wydawca

Publikacja

Język

Rok publikacji