Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families

Autor: Judith Balmaña, Douglas F. Easton, Adeline Cuggia, Kenneth Offit, Heli Nevanlinna, Judy Garber, Florentia Fostira, Kelly A. Metcalfe, Jana Soukupova, Carlo Tondini, Orland Diez, George Zogopoulos, James Scarth, Marketa Janatova, Tuya Pal, Mark E. Robson, James E. Redman, Laura Ottini, Patrick Concannon, Ann S.G. Lee, Åke Borg, Anders Kvist, Sandra Schneider, Valentina Silvestri, Christoph Engel, Rachel Silva-Smith, Antoine De Pauw, Tu Nguyen-Dumont, Inga Plaskocinska, Katherine L. Nathanson, Hans Ehrencrona, Susan J. Ramus, Rita K. Schmutzler, Craig Luccarini, Mitul Shah, Sophia George, Goska Leslie, Jeffrey N. Weitzel, Irene Konstantopoulou, Carl Blomqvist, William D. Foulkes, Georgia Chenevix-Trench, Marc Tischkowitz, Thomas van Overeem Hansen, Pei Sze Ng, Kathleen Claes, Ellen L. Goode, Olufunmilayo I. Olopade, Sarah M. Nielsen, Andy C. H. Lee, Melissa C. Southey, Ramunas Janavicius, Jill S. Dolinsky, Alfons Meindl, Paolo Peterlongo, Julie O. Culver, Kristiina Aittomäki, Robert Winqvist, Alison H. Trainer, Tuomas Heikkinen, Paolo Radice, David E. Goldgar, Florian Obermair, Marie E. Wood, Jonine L. Bernstein, Sook-Yee Yoon, Paul D.P. Pharoah, Christopher R. Hake, Claude Houdayer, Irene L. Andrulis, Aaron Elliott, Zaki El-Haffaf, Petra Kleiblova, Jukka S. Moilanen, Judith Hurley, Antonis C. Antoniou, Siranoush Manoukian, Fergus J. Couch, Anne-Bine Skytte, Susan L. Neuhausen, Gary Unzeitig, D. Gareth Evans, Eamonn R. Maher, John L. Hopper, Rachel McFarland, James A. G. Whitworth, Judith Penkert, Julian Barwell, Susan M. Domchek, Zdenek Kleibl, Leila Dorling, Lisa Golmard, Peter Ang, Brennan Decker, Cheng Har Yip, Nur Aishah Taib, Vilius Rudaitis, Julian Adlard, Xin Yang, Jamie Allen, Lydia Usha, Francesca Damiola, Amal Yussuf, Katri Pylkäs, Alicja Doroszuk, Eric Hahnen, Muriel A. Adank, Karen A. Pooley, Soo Hwang Teo, Kristie Bobolis, Paul A. James, Alison M. Dunning, Holly LaDuca, Stephen B. Gruber, Wendy McKinnon, Fabienne Lesueur, Lucy Side, Arto Mannermaa, Thomas P. Slavin

Publikováno v: Yang, X, Leslie, G, Doroszuk, A, Schneider, S, Allen, J, Decker, B, Dunning, A M, Redman, J, Scarth, J, Plaskocinska, I, Luccarini, C, Shah, M, Pooley, K, Dorling, L, Leei, A, Adank, M A, Adlard, J, Aittomäki, K, Andrulis, I L, Ang, P, Barwell, J, Bernstein, J L, Bobolis, K, Borg, Å, Blomqvist, C, Claes, K B M, Concannon, P, Cuggia, A, Culver, J O, Damiola, F, De Pauw, A, Diez, O, Dolinsky, J S, Domchek, S M, Engel, C, Evans, D G, Fostira, F, Garber, J, Golmard, L, Goode, E L, Gruber, S B, Hahnen, E, Hake, C, Heikkinen, T, Hurley, J E, Janavicius, R, Kleibl, Z, Kleiblova, P, Konstantopoulou, I, Kvist, A, Laduca, H, Lee, A S G, Lesueur, F, Maher, E R, Mannermaa, A, Manoukian, S, McFarland, R, McKinnon, W, Meindl, A, Metcalfe, K, Taib, N A M, Moilanen, J, Nathanson, K L, Neuhausen, S, Ng, P S, Nguyen-Dumont, T, Nielsen, S M, Obermair, F, Offit, K, Olopade, O I, Ottini, L, Penkert, J, Pylkäs, K, Radice, P, Ramus, S J, Rudaitis, V, Side, L, Silva-Smith, R, Silvestri, V, Skytte, A B, Slavin, T, Soukupova, J, Tondini, C, Trainer, A H, Unzeitig, G, Usha, L, Van Overeem Hansen, T, Whitworth, J, Wood, M, Yip, C H, Yoon, S Y, Yussuf, A, Zogopoulos, G, Goldgar, D, Hopper, J L, Chenevix-Trench, G, Pharoah, P, George, S H L, Balmaña, J, Houdayer, C, James, P, El-Haffaf, Z, Ehrencrona, H, Janatova, M, Peterlongo, P, Nevanlinna, H, Schmutzler, R, Teo, S H, Robson, M, Pal, T, Couch, F, Weitzel, J N, Elliott, A, Southey, M, Winqvist, R, Easton, D F, Foulkes, W D, Antoniou, A C & Tischkowitz, M 2020, ' Cancer risks associated with germline PALB2 pathogenic variants : An international study of 524 families ', Journal of Clinical Oncology, vol. 38, no. 7, pp. 674-685 . https://doi.org/10.1200/JCO.19.01907

PURPOSE To estimate age-specific relative and absolute cancer risks of breast cancer and to estimate risks of ovarian, pancreatic, male breast, prostate, and colorectal cancers associated with germline PALB2 pathogenic variants (PVs) because these ri

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa6efd9d1ddf683873bdcb0c64763fb9
https://doi.org/10.1200/jco.19.01907

[Austrian Consensus on High Blood Pressure 2019]

Autor: Thomas, Weber, Klaus, Arbeiter, Florian, Ardelt, Johann, Auer, Christoph, Aufricht, Mathias C, Brandt, Wolfgang, Dichtl, Julia, Ferrari, Bernhard, Föger, Martin, Henkel, Katharina, Hohenstein-Scheibenecker, Sabine, Horn, Alexandra, Kautzky-Willer, Erwin, Kepplinger, Michael, Knoflach, Christian, Koppelstätter, Christoph, Mache, Peter, Marschang, Gert, Mayer, Bernhard, Metzler, Rainer, Oberbauer, Florian, Obermair, Barbara, Obermayer-Pietsch, Sabine, Perl, Stefan, Pilz, Friedrich C, Prischl, Andrea, Podczeck-Schweighofer, Erwin, Rebhandl, Miklos, Rohla, Regina, Roller-Wirnsberger, Christoph H, Saely, Peter, Siostrzonek, Jörg, Slany, Kurt, Stoschitzky, Siegfried, Waldegger, Rene R, Wenzel, Thomas, Weiss, Gerhard, Wirnsberger, Yvonne, Winhofer-Stöckl, David, Zweiker, Robert, Zweiker, Bruno, Watschinger

Publikováno v: Wiener klinische Wochenschrift. 131(Suppl 6)

Elevated blood pressure remains a major cause of cardiovascular disease, disability, and premature death in Austria, with suboptimal rates of detection, treatment and control also in recent years. Management of hypertension is a common challenge for

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::0b64cef2826654f19ed46e04752044d2
https://pubmed.ncbi.nlm.nih.gov/31792659

Cleft lip/palate and hereditary diffuse gastric cancer: report of a family harboring a CDH1 c.687 + 1G A germline mutation and review of the literature

Autor: Florian Obermair, Wolfgang Kranewitter, Katharina Wimmer, Jonathan Burghofer, Anna Schossig, Melanie Rammer, Hans-Christoph Duba, Gerald Webersinke, Beate Mayrbaeurl, Theodora Malli

Publikováno v: Familial cancer. 18(2)

Hereditary diffuse gastric cancer (HDGC) is an autosomal-dominantly inherited cancer syndrome associated with a high risk for diffuse gastric and lobular breast cancer, caused by heterozygous CDH1 germline mutations. Of note, also cleft lip/palate (C

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc74e9d56dd1aad8ba1ce630c30da077
https://pubmed.ncbi.nlm.nih.gov/30306390

Rapid and reliable detection of LINE-1 hypomethylation using high-resolution melting analysis

Autor: Cornelia Hauser-Kronberger, Nadia Dandachi, Ellen Heitzer, Stefanie Stanzer, Florian Obermair, Jasmin Strutz, Hellmut Samonigg, Marija Balic

Publikováno v: Clinical biochemistry. 43(18)

article i nfo Article history: Objectives: The aim of the present study was to evaluate the precision and reproducibility of the LINE-1 high-resolution melting (HRM) assay to detect LINE-1 hypomethylation. Design and methods: We first evaluated a met

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a9ae2891f0ebc5236c9dc396f8b0e5e
https://pubmed.ncbi.nlm.nih.gov/20883681