A retrospective study of extracolonic, non-endometrial cancer in Swedish Lynch syndrome families

Autor: Masoud Karimi, Jenny von Salomé, Christos Aravidis, Gustav Silander, Marie Stenmark Askmalm, Isabelle Henriksson, Samuel Gebre-Medhin, Jan-Erik Frödin, Erik Björck, Kristina Lagerstedt-Robinson, Annika Lindblom, Emma Tham

Publikováno v: Hereditary Cancer in Clinical Practice, Vol 16, Iss 1, Pp 1-11 (2018)

Abstract Background Lynch Syndrome is an autosomal dominant cancer syndrome caused by pathogenic germ-line variants in one of the DNA-mismatch-repair (MMR) genes MLH1, MSH2, MSH6 or PMS2. Carriers are predisposed to colorectal and endometrial cancer,

Externí odkaz: https://doaj.org/article/1631392b4b01405c90c814a790407bbf

Frontotemporal Dementia, Manifested as Schizophrenia, with Decreased Heterochromatin on Chromosome 1

Autor: Philippos Gourzis, Maria Skokou, Panagiotis Polychronopoulos, Evanthia Soubasi, Irene-Eva Triantaphyllidou, Christos Aravidis, Antonia-Ioanna Sarela, Zoe Kosmaidou

Publikováno v: Case Reports in Psychiatry, Vol 2012 (2012)

Introduction. Frontotemporal dementia is a disorder of complex etiology, with genetic components contributing to the disease. The aim of this report is to describe a young patient suffering from frontotemporal dementia, misdiagnosed as schizophrenia,

Externí odkaz: https://doaj.org/article/e3c28b59cea04ca5b7d0262364f9ed27

Corticotroph Pituitary Carcinoma in a Patient With Lynch Syndrome (LS) and Pituitary Tumors in a Nationwide LS Cohort

Autor: Daniel Bengtsson, Samuel Gebre-Medhin, Jenny von Salomé, Theofanis Zagoras, Marie Askmalm Stenmark, Ann Sofie Backman, Beatrice Melin, Patrick Joost, Christos Aravidis, Pia Burman

Publikováno v: The Journal of Clinical Endocrinology & Metabolism. 102:3928-3932

Context: Lynch syndrome (LS) is a cancer-predisposing syndrome caused by germline mutations in genes involved in DNA mismatch repair (MMR). Patients are at high risk for several types of cancer, but pituitary tumors have not previously been reported.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1843d40e01226ff14cfa992275b142e9
https://doi.org/10.1210/jc.2017-01401

A retrospective study of extracolonic, non-endometrial cancer in Swedish Lynch syndrome families

Autor: Jenny von Salomé, Samuel Gebre-Medhin, Isabelle Henriksson, Masoud Karimi, Annika Lindblom, Erik Björck, Christos Aravidis, Kristina Lagerstedt-Robinson, Gustav Silander, Jan Erik Frödin, Marie Stenmark Askmalm, Emma Tham

Publikováno v: Hereditary Cancer in Clinical Practice
Hereditary Cancer in Clinical Practice, Vol 16, Iss 1, Pp 1-11 (2018)

Background Lynch Syndrome is an autosomal dominant cancer syndrome caused by pathogenic germ-line variants in one of the DNA-mismatch-repair (MMR) genes MLH1, MSH2, MSH6 or PMS2. Carriers are predisposed to colorectal and endometrial cancer, but also

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7be9030cd93b7de3ea30be3099f2a332
http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-152503

PHIP - a novel candidate breast cancer susceptibility locus on 6q14.1

Autor: Qin Wang, kConFab, Paolo Radice, Tao Liu, Isabel dos-Santos-Silva, Douglas F. Easton, Joe Dennis, Qi Guo, Michael Lush, Jessada Thutkawkorapin, Diether Lambrechts, Barbara Kremeyer, Fergus J. Couch, Pascal Guénel, Melanie Gündert, Rita K. Schmutzler, William J. Blot, Julian Peto, Christine B. Ambrosone, Wei Zheng, Mikael Eriksson, Ute Hamann, Johanna Rantala, Barbara Burwinkel, Michael J. Kerin, Johanna Lundin, Graham G. Giles, Hiltrud Brauch, Hoda Anton-Culver, Veli-Matti Kosma, Marjanka K. Schmidt, Aocs Investigators, Paula Maguire, Marike Gabrielson, Judith S. Brand, Simone Picelli, Rajeshwari Marikkannu, Quan Du, Irene L. Andrulis, Valerie Rhenius, Kyriaki Michailidou, Susan L. Neuhausen, Vinaykumar Kontham, Alison M. Dunning, Hermann Brenner, Thilo Dörk, Elinor J. Sawyer, Christopher A. Haiman, Anna González-Neira, Thérèse Truong, Peter Devilee, Qiuyin Cai, Susanna von Holst, Peter A. Fasching, Anna Marie Mulligan, Bernardo Bonanni, Javier Benítez, Kamila Czene, Loic Le Marchand, Katri Pylkäs, Henrik Flyger, Jacques Simard, Manjeet K. Bolla, Alfons Meindl, Per Hall, Simon S. Cross, Annika Lindblom, Emily Hallberg, Christos Aravidis, Sara Margolin, Vessela N. Kristensen, Carl Blomqvist, Annegien Broeks, John W.M. Martens, Jonine D. Figueroa, Xiang Jiao, Montserrat Garcia-Closas, Mitul Shah, Matthias W. Beckmann, Thomas Brüning, Guanmengqian Huang, John L. Hopper, Jan Lubinski, Michael Jones, Anthony J. Swerdlow, Roger L. Milne, Patricia Harrington, Caroline Seynaeve, Arto Mannermaa, Liping Luo, Natalia Antonenkova, Tatjana Adamovic, Angela Cox, Maartje J. Hooning, Volker Arndt, Dieter Flesch-Janys, Camilla Wendt, Stig E. Bojesen, Melissa C. Southey, Robert Winqvist, Anna Jakubowska, Paul D.P. Pharoah, Bram Boeckx, Sandra Deming-Halverson, Heli Nevanlinna, Jenny Chang-Claude

Publikováno v: Oncotarget
Jiao, X, Aravidis, C, Marikkannu, R, Rantala, J, Picelli, S, Adamovic, T, Liu, T, Maguire, P, Kremeyer, B, Luo, L, von Holst, S, Kontham, V, Thutkawkorapin, J, Margolin, S, Du, Q, Lundin, J, Michailidou, K, Bolla, M K, Wang, Q, Dennis, J, Lush, M, Ambrosone, C B, Andrulis, I L, Anton-Culver, H, Antonenkova, N N, Arndt, V, Beckmann, M W, Blomqvist, C, Blot, W, Boeckx, B, Bojesen, S E, Bonanni, B, Brand, J S, Brauch, H, Brenner, H, Broeks, A, Brüning, T, Burwinkel, B, Cai, Q, Chang-Claude, J, Couch, F J, Cox, A, Cross, S S, Deming-Halverson, S L, Devilee, P, Dos-Santos-Silva, I, Dörk, T, Eriksson, M & Fasching, P A & Figueroa, J 2017, ' PHIP-a novel candidate breast cancer susceptibility locus on 6q14.1 ', Oncotarget, vol. 8, no. 61, pp. 102769-102782 . https://doi.org/10.18632/oncotarget.21800
Jiao, X, Aravidis, C, Marikkannu, R, Rantala, J, Picelli, S, Adamovic, T, Liu, T, Maguire, P, Kremeyer, B, Luo, L, von Holst, S, Kontham, V, Thutkawkorapin, J, Margolin, S, Du, Q, Lundin, J, Michailidou, K, Bolla, M K, Wang, Q, Dennis, J, Lush, M, Ambrosone, C B, Andrulis, I L, Anton-Culver, H, Antonenkova, N N, Arndt, V, Beckmann, M W, Blomqvist, C, Blot, W, Boeckx, B, Bojesen, S E, Bonanni, B, Brand, J S, Brauch, H, Brenner, H, Broeks, A, Brüning, T, Burwinkel, B, Cai, Q, Chang-Claude, J, NBCS Collaborators, C, Couch, F J, Cox, A, Cross, S S, Deming-Halverson, S L, Devilee, P, dos-Santos-Silva, I, Dörk, T, Eriksson, M, Fasching, P A, Figueroa, J, Flesch-Janys, D, Flyger, H, Gabrielson, M, García-Closas, M, Giles, G G, González-Neira, A, Guénel, P, Guo, Q, Gündert, M, Haiman, C A, Hallberg, E, Hamann, U, Harrington, P, Hooning, M J, Hopper, J L, Huang, G, Jakubowska, A, Jones, M E, Kerin, M J, Kosma, V M, Kristensen, V N, Lambrechts, D, Marchand, L L, Lubinski, J, Mannermaa, A, Martens, J W M, Meindl, A, Milne, R L, Mulligan, A M, Neuhausen, S L, Nevanlinna, H, Peto, J, Pylkäs, K, Radice, P, Rhenius, V, Sawyer, E J, Schmidt, M K, Schmutzler, R K, Seynaeve, C, Shah, M, Simard, J, Southey, M C, Swerdlow, A J, Truong, T, Wendt, C, Winqvist, R, Zheng, W, kConFab/AOCS Investigators, I, Benitez, J, Dunning, A M, Pharoah, P D P, Easton, D F, Czene, K, Hall, P & Lindblom, A 2017, ' PHIP : a novel candidate breast cancer susceptibility locus on 6q14.1 ', OncoTarget, vol. 8, no. 61, pp. 102769-102782 . https://doi.org/10.18632/oncotarget.21800
Jiao, X; Aravidis, C; Marikkannu, R; Rantala, J; Picelli, S; Adamovic, T; et al.(2017). PHIP-a novel candidate breast cancer susceptibility locus on 6q14.1. ONCOTARGET, 8(61), 102769-102782. doi: 10.18632/oncotarget.21800. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/6gx4c4wc
Oncotarget, 8(61), 102769-102782. Impact Journals LLC
Oncotarget, 8(61), 102769-102782

Most non-BRCA1/2 breast cancer families have no identified genetic cause. We used linkage and haplotype analyses in familial and sporadic breast cancer cases to identify a susceptibility locus on chromosome 6q. Two independent genome-wide linkage ana

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42f9c2f4ef11e25e76ea3aa595335c19
https://eprints.whiterose.ac.uk/122485/1/21800-309857-4-PB.pdf