Overview of Cancer Control in Armenia and Policy Implications

Autor: Karen Bedirian, Tigran Aghabekyan, Arianna Mesrobian, Shant Shekherdimian, Davit Zohrabyan, Liana Safaryan, Lilit Sargsyan, Armen Avagyan, Lilit Harutyunyan, Astghik Voskanyan, Artashes Tadevosyan, Davit Melik-Nubaryan, Parandzem Khachatryan, Tatul Saghatelyan, Mher Kostanyan, Hovhannes Vardevanyan, Marine Hovhannisyan, Tamara Sarkisian, Karine Sargsyan, Davit Babikyan, Armen Tananyan, Samvel Danielyan, Armen Muradyan, Gevorg Tamamyan, Samvel Bardakhchyan

Publikováno v: Frontiers in Oncology, Vol 11 (2022)

Cancer is the second leading cause of death in Armenia. Over the past two decades, the country has seen a significant rise in cancer morbidity and mortality. This review aims to provide up-to-date info about the state of cancer control in Armenia and

Externí odkaz: https://doaj.org/article/7aaccc1a25774c98b76ca005a6ca2892

Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities

Autor: Stéphane Bézieau, Médéric Jeanne, Anne Sophie Denommé-Pichon, Jason Laufman, William B. Dobyns, Sébastien Küry, Judith Halewa, Elliott H. Sherr, Dominique Bonneau, Julie Vogt, Sophie Blesson, Hélène Demory, Jérôme Honnorat, Helene Cox, Séverine Audebert-Bellanger, Marie Laure Vuillaume, Sylviane Marouillat, Estelle Colin, Avgi Andreou, Emanuela Argilli, Bertrand Isidor, Bernhard Lohkamp, Miroslava Hancarova, Rajesh Khanna, Davit Babikyan, Sarka Bendova, Kimberly A. Aldinger, Aubin Moutal, Saskia M. Maas, Marjon van Slegtenhorst, Annick Toutain, Sylvie Odent, Rose Anne Thépault, Natella Kostandyan, Eleina M. England, Zdenek Sedlacek, Richard Redon, M. Mahdi Motazacker, Frédéric Laumonnier, Brigitte Gilbert-Dussardier, Grazia M.S. Mancini

Publikováno v: American Journal of Human Genetics
American Journal of Human Genetics, 2021, 108 (5), pp.951-961. ⟨10.1016/j.ajhg.2021.04.004⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2021, 108 (5), pp.951-961. ⟨10.1016/j.ajhg.2021.04.004⟩
American Journal of Human Genetics, 108(5), 951-961. Cell Press
American journal of human genetics, vol 108, iss 5
Am J Hum Genet
American journal of human genetics, 108(5), 951-961. Cell Press

International audience; The collapsin response mediator protein (CRMP) family proteins are intracellular mediators of neurotrophic factors regulating neurite structure/spine formation and are essential for dendrite patterning and directional axonal p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e66e0d64a2aebf8eb64fc4124a065ea
https://hal.science/hal-03221134

Comprehensive analysis of mutations in the MEFV gene reveal that the location and not the substitution type determines symptom severity in FMF

Autor: Hasmik Hayrapetyan, Dion Banoian, Davit Babikyan, Mike M Moradian, Nareh Avanesian, Hakob Manvelyan, Tamara Sarkisian

Publikováno v: Molecular Genetics & Genomic Medicine

Background Familial Mediterranean Fever (FMF) is an autoinflammatory disorder caused by mutations in the MEFV gene. These mutations appear in different populations with different frequencies and their caused symptom severities vary from mild to moder

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ab6600e53f84a28c705dcbba69d746e
https://pubmed.ncbi.nlm.nih.gov/29178647

Clinical classification of BRCA1 and BRCA2 DNA sequence variants: the value of cytokeratin profiles and evolutionary analysis--a report from the kConFab Investigators

Autor: Sue Healey, Melissa A. Brown, David E. Goldgar, Georgia Chenevix-Trench, Leonard Da Silva, Suzanne Parry, Amanda B. Spurdle, Ross I. Brinkworth, Sean V. Tavtigian, Sunil R. Lakhani, Davit Babikyan, John L. Hopper

Publikováno v: Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 26(10)

PurposeRare missense substitutions and in-frame deletions of BRCA1 and BRCA2 genes present a challenge for genetic counseling of individuals carrying such unclassified variants. We assessed the value of tumor immunohistochemical markers in conjunctio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d125addf15026618183128c700fc9a12
https://pubmed.ncbi.nlm.nih.gov/18375895

Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study

Autor: Maxime Vallée, Catherine Voegele, Florence Le Calvez-Kelm, Alun Thomas, Francesca Damiola, Geoffroy Durand, Sandrine McKay-Chopin, Nathalie Forey, Davit Babikyan, Tu Nguyen-Dumont, Irene L. Andrulis, John L. Hopper, Melissa C. Southey, Sean V. Tavtigian, Nivonirina Robinot, Graham Byrnes, Fabienne Lesueur, Esther M. John

Publikováno v: Breast Cancer Research : BCR

Introduction Both protein-truncating variants and some missense substitutions in CHEK2 confer increased risk of breast cancer. However, no large-scale study has used full open reading frame mutation screening to assess the contribution of rare missen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09965fd916c6eb420e7d6ee9067bd041
http://europepmc.org/articles/PMC3109572