Identification and management of Lynch syndrome in the Middle East and North African countries: outcome of a survey in 12 countries.

Autor: Sina M; Genetics Department, Breast Cancer Research Center, Motamed Cancer Institute, ACECR, Tehran, Iran.; A. Nocivelli Institute for Molecular Medicine, Department of Molecular and Translational Medicine, University of Brescia, 25123, Brescia, Italy., Ghorbanoghli Z; Department of Gastroenterology and Hepatology, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands. z.ghorbanoghli@gmail.com.; Dutch Hereditary Cancer Registry, Leiden, The Netherlands. z.ghorbanoghli@gmail.com., Abedrabbo A; Department of Pediatrics, Makassed Islamic Charitable Hospital, Jerusalem, Palestine., Al-Mulla F; Department of Genetics and Bioinformatics, Dasman Diabetes Institute, P.O. Box 1180, 15462, Dasman, Kuwait., Sghaier RB; Cytogenetic, Molecular Genetics and Human Reproduction Biology - Farhat, HACHED Hospital, Sousse, Tunisia., Buisine MP; Unit of Molecular Oncology and Genetics, Institute of Biochemistry and Molecular Biology, Lille University Hospital, Lille, France., Cortas G; Department of Gastroenterology, St. George Hospital Medical Center, University of Balamand Medical School, Beirut, Lebanon., Goshayeshi L; Department of Gastroenterology and Hepatology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Hadjisavvas A; Department of Electron Microscopy/Molecular Pathology, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Hammoudeh W; Department of Internal Medicine, Arabcare Hospital, Ramallah, Palestine., Hamoudi W; Department of Gastroenterology, The Royal Hospital, Amman, Jordan., Jabari C; Patient's Friends Society, Jerusalem, Palestine.; Hebron University, Hebron, Palestine., Loizidou MA; Department of Electron Microscopy/Molecular Pathology, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Majidzadeh-A K; Genetics Department, Breast Cancer Research Center, Motamed Cancer Institute, ACECR, Tehran, Iran., Marafie MJ; Kuwait Medical Genetics Centre, Maternity Hospital, 13059, Safat, Kuwait., Muslumov G; Colorectal Surgery Department, Scientific Center of Surgery, Baku, Azerbaijan., Rifai L; Centre Hospitalier Universitaire IBN SINA, Rabat Instituts, Institut National D'Oncologie Sidi Mohamed Ben Abdellah, BP 6213, Rabat, Maroc., Seir RA; Al-Quds University, Abu-Dis, Palestine., Talaat SM; Ahmed Maher Teaching Hospital, Cairo, Egypt., Tunca B; Department of Medical Biology, Medical Faculty, Uludag University, Bursa, Turkey., Ziada-Bouchaar H; Laboratory of Biology and Molecular Genetics, Faculty of Medicine, University 3, Rabah Bitat, Constantine, Algeria., Velthuizen ME; Department of Genetics, University Medical Center Utrecht (Location WKZ), Utrecht, the Netherlands., Sharara AI; Division of Gastroenterology, American University of Beirut Medical Centre, Beirut, Lebanon., Ahadova A; Department of Applied Tumour Biology, Institute of Pathology, University Hospital Heidelberg, Heidelberg, Germany.; Cooperation Unit Applied Tumour Biology, German Cancer Research Center (DKFZ), Heidelberg, Germany., Georgiou D; Department of Clinical Genetics, London North West University Healthcare, London, UK., Vasen HFA; Department of Gastroenterology and Hepatology, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands.; Dutch Hereditary Cancer Registry, Leiden, The Netherlands.

Publikováno v: Familial cancer [Fam Cancer] 2021 Jul; Vol. 20 (3), pp. 215-221. Date of Electronic Publication: 2020 Oct 24.

Case Report: Senior-Loken syndrome: A novel NPHP5 gene mutation in a family from Kuwait

Autor: Marafie, MJ, Al-Mulla, F

Publikováno v: Egyptian Journal of Medical Human Genetics; Vol 15, No 2 (2014); 203-207

Background: Rare autosomal recessive disorders of variable severity are segregating in many highly consanguineous families from the Arab population. One of these deleterious diseases is Senior-Loken syndrome, a hereditary heterogeneous multiorgan dis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=78975075580c::1ee87977f597aaf69c60a074798f3b9b
https://www.ajol.info/index.php/ejhg/article/view/103072

The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries.

Autor: Laitman Y; The Susanne Levy Gertner Oncogenetics Unit, The Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel., Friebel TM; Dana-Farber Cancer Institute, Boston, MA., Yannoukakos D; Molecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research Demokritos, Athens, Greece., Fostira F; Molecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research Demokritos, Athens, Greece., Konstantopoulou I; Molecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research Demokritos, Athens, Greece., Figlioli G; Genome Diagnostics Program, IFOM, the FIRC Institute of Molecular Oncology, Milan, Italy., Bonanni B; Division of Cancer Prevention and Genetics, IEO, European Institute of Oncology IRCCS, Milan, Italy., Manoukian S; Unit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milan, Italy., Zuradelli M; Medical Oncology and Hematology Department, Humanitas Cancer Center, Milan, Italy., Tondini C; Department of Medical Oncology, Ospedale Papa Giovanni XXIII, Bergamo, Italy., Pasini B; Department of Medical Sciences, University of Turin, Turin, Italy., Peterlongo P; Genome Diagnostics Program, IFOM, the FIRC Institute of Molecular Oncology, Milan, Italy., Plaseska-Karanfilska D; Macedonian Academy of Sciences and Arts Research Centre for Genetic Engineering and Biotechnology, Skopje, Republic of Macedonia., Jakimovska M; Macedonian Academy of Sciences and Arts Research Centre for Genetic Engineering and Biotechnology, Skopje, Republic of Macedonia., Majidzadeh K; Department of Genetics, Breast Cancer Research Center, Motamed Cancer Institute, ACECR, Tehran, Iran., Zarinfam S; Department of Genetics, Breast Cancer Research Center, Motamed Cancer Institute, ACECR, Tehran, Iran., Loizidou MA; Department of Electron Microscopy/Molecular Pathology, The Cyprus Institute of Neurology and Genetics, The Cyprus School of Molecular Medicine, Nicosia, Cyprus., Hadjisavvas A; Department of Electron Microscopy/Molecular Pathology, The Cyprus Institute of Neurology and Genetics, The Cyprus School of Molecular Medicine, Nicosia, Cyprus., Michailidou K; Department of Electron Microscopy/Molecular Pathology, The Cyprus Institute of Neurology and Genetics, The Cyprus School of Molecular Medicine, Nicosia, Cyprus., Kyriacou K; Department of Electron Microscopy/Molecular Pathology, The Cyprus Institute of Neurology and Genetics, The Cyprus School of Molecular Medicine, Nicosia, Cyprus., Behar DM; Igentify, Tirat Hacrmel, Israel., Molho RB; The Institute of Oncology, Sheba Medical Center, Tel-Hashomer, Israel.; The Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel., Ganz P; Schools of Medicine and Public Health, Division of Cancer Prevention & Control Research, Jonsson Comprehensive Cancer Centre, UCLA, Los Angeles, CA., James P; Parkville Familial Cancer Peter MacCallum Cancer Center, Sir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, Victoria, Australia., Parsons MT; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Queensland Institute of Medical Research, Brisbane, Australia., Sallam A; Center for Clinical Cancer Genetics, The University of Chicago, Chicago, IL., Olopade OI; Center for Clinical Cancer Genetics, The University of Chicago, Chicago, IL., Seth A; Department of Laboratory Medicine and Pathobiology, Faculty of Medicine, University of Toronto, Canada., Chenevix-Trench G; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Queensland Institute of Medical Research, Brisbane, Australia., Leslie G; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, England., McGuffog L; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, England., Marafie MJ; Kuwait Medical Genetics Center, Maternity Hospital, Kuwait., Megarbane A; Institut Jerome Lejeune, Paris, France., Al-Mulla F; Department of Genetics and Bioinformatics, Dasman Diabetes Institute, Kuwait City, Kuwait., Rebbeck TR; Dana-Farber Cancer Institute, Boston, MA.; Harvard T.H. Chan School of Public Health, Boston, MA., Friedman E; The Susanne Levy Gertner Oncogenetics Unit, The Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel.; The Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.

Publikováno v: Human mutation [Hum Mutat] 2019 Nov; Vol. 40 (11), pp. e1-e23. Date of Electronic Publication: 2019 Jul 26.

Next-generation sequencing in familial breast cancer patients from Lebanon.

Autor: Jalkh N; Unité de Génétique Médicale, Pôle Technologie Santé, Faculty of Medicine, Saint Joseph University, Beirut, Lebanon., Chouery E; Unité de Génétique Médicale, Pôle Technologie Santé, Faculty of Medicine, Saint Joseph University, Beirut, Lebanon., Haidar Z; Unité de Génétique Médicale, Pôle Technologie Santé, Faculty of Medicine, Saint Joseph University, Beirut, Lebanon., Khater C; Trad Hospital, Beirut, Lebanon., Atallah D; Department of Gynecology and Obstetrics, Hôtel-Dieu de France University Hospital, Saint Joseph University, Beirut, Lebanon., Ali H; Department of Medical Laboratory Sciences (MLS), Faculty of Allied Health Sciences, Health Sciences Center (HSC), Kuwait University, Safat, Kuwait.; Dasman Diabetes Institute (DDI), P.O Box 1180, Dasman, 15462, Kuwait., Marafie MJ; Kuwait Medical Genetics Center, Maternity Hospital, Safat, Kuwait., Al-Mulla MR; Department of Computing Sciences and Engineering, Kuwait University, P.O. Box 5969, Safat, 13060, Kuwait., Al-Mulla F; Dasman Diabetes Institute (DDI), P.O Box 1180, Dasman, 15462, Kuwait. fahd@al-mulla.org.; Health Sciences Center, Faculty of Medicine, Department of Pathology, Kuwait University, P.O.Box 24923, Safat, 13110, Kuwait. fahd@al-mulla.org., Megarbane A; Institut Jerome Lejeune, Paris, France. andre.megarbane@yahoo.fr.

Publikováno v: BMC medical genomics [BMC Med Genomics] 2017 Feb 15; Vol. 10 (1), pp. 8. Date of Electronic Publication: 2017 Feb 15.

Identification of 42 Genes Linked to Stage II Colorectal Cancer Metastatic Relapse.

Autor: Al-Temaimi RA; Human Genetics Unit, Department of Pathology, Faculty of Medicine, Kuwait University, Kuwait 13110, Kuwait. rabeah@hsc.edu.kw., Tan TZ; Cancer Science Institute of Singapore, National University of Singapore, Singapore 117599, Singapore. csittz@nus.edu.sg., Marafie MJ; Kuwait Medical Genetics Center, Maternity Hospital, Kuwait 13001, Kuwait. mj_marafie@yahoo.com., Thiery JP; Department of Biochemistry, National University of Singapore, Singapore 117599, Singapore. bchtjp@nus.edu.sg., Quirke P; Pathology and Tumour Biology, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds LS9 7TF, UK. p.quirke@leeds.ac.uk., Al-Mulla F; Molecular Pathology Unit, Department of Pathology, Faculty of Medicine, Kuwait University, Kuwait 13110, Kuwait. fahd@al-mulla.org.

Publikováno v: International journal of molecular sciences [Int J Mol Sci] 2016 Apr 28; Vol. 17 (5). Date of Electronic Publication: 2016 Apr 28.