Comprehensive Assessment of BARD1 Messenger Ribonucleic Acid Splicing With Implications for Variant Classification

Autor: Logan C. Walker, Vanessa Lilian Lattimore, Anders Kvist, Petra Kleiblova, Petra Zemankova, Lucy de Jong, George A. R. Wiggins, Christopher Hakkaart, Simone L. Cree, Raquel Behar, Claude Houdayer, kConFab Investigators, Michael T. Parsons, Martin A. Kennedy, Amanda B. Spurdle, Miguel de la Hoya

Publikováno v: Frontiers in Genetics, Vol 10 (2019)

Introduction: Case–control analyses have shown BARD1 variants to be associated with up to >2-fold increase in risk of breast cancer, and potentially greater risk of triple negative breast cancer. BARD1 is included in several gene sequencing panels

Externí odkaz: https://doaj.org/article/aef730ca4a5841118efe4b737619769d

Utility of Plasma Neurofilament Light in the 1Florida Alzheimer’s Disease Research Center (ADRC)

Autor: Maria T. Greig, Ranjan Duara, Rosemarie Rodriguez, Carlos Quinonez, Monica Rosselli, Todd E. Golde, Tatjana Rundek, Kevin Hanson, Nilufer Ertekin-Taner, Malek Adjouadi, Cesar L Chirinos, David A. Loewenstein, Miriam J. Rodriguez, Glenn E. Smith, Rosie E. Curiel Cid, Karen N. McFarland, David E. Vaillancourt, Steven T. DeKosky, Raquel Behar, Warren W. Barker, Michael Marsiske

Publikováno v: Journal of Alzheimer's Disease

Background: Plasma NfL (pNfL) levels are elevated in many neurological disorders. However, the utility of pNfL in a clinical setting has not been established. Objective: In a cohort of diverse older participants, we examined: 1) the association of pN

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10a363ebd9eabe73c1d47e2664d582f2
https://doi.org/10.3233/jad-200901

Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report

Autor: kConFab Investigators, Melissa C. Southey, John F. Pearson, Tina Pesaran, Logan C. Walker, Miguel de la Hoya, Sitao Wu, Dominique Vaur, Peter Devilee, Vickie Hsuan, Vanesa García-Barberán, Raphaël Leman, Patricia Llovet, Johan Vallon-Christersson, Irene López-Perolio, Raquel Behar, Alexandra Martins, Grégoire Davy, Anders Kvist, Vanessa Lattimore, Nicolas Goardon, Trinidad Caldés, Åke Borg, Laurent Castera, Pedro Pérez-Segura, Maaike P.G. Vreeswijk, Rachid Karam, Pilar Garre, Eduardo Díaz-Rubio, Eladio Velasco, Sophie Krieger, Kathleen S. Hruska, Alberto Valenzuela-Palomo, Amanda B. Spurdle

Publikováno v: Journal of Medical Genetics, 56(7), 453-460. BMJ PUBLISHING GROUP
Journal of Medical Genetics
Digital.CSIC. Repositorio Institucional del CSIC
instname
Journal of Medical Genetics, BMJ Publishing Group, 2019, 56 (7), pp.453-460. ⟨10.1136/jmedgenet-2018-105834⟩

Cancer genetics: Original article.
[Background] PALB2 monoallelic loss-of-function germ-line variants confer a breast cancer risk comparable to the average BRCA2 pathogenic variant. Recommendations for risk reduction strategies in carriers are s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf122896e2ef86221ef12014cfcfc9cb
http://hdl.handle.net/1887/121881

The BRCA2 c.68-7T A variant is not pathogenic: A model for clinical calibration of spliceogenicity

Autor: Mara, Colombo, Irene, Lòpez-Perolio, Huong D, Meeks, Laura, Caleca, Michael T, Parsons, Hongyan, Li, Giovanna, De Vecchi, Emma, Tudini, Claudia, Foglia, Patrizia, Mondini, Siranoush, Manoukian, Raquel, Behar, Encarna B Gómez, Garcia, Alfons, Meindl, Marco, Montagna, Dieter, Niederacher, Ane Y, Schmidt, Liliana, Varesco, Barbara, Wappenschmidt, Manjeet K, Bolla, Joe, Dennis, Kyriaki, Michailidou, Qin, Wang, Kristiina, Aittomäki, Irene L, Andrulis, Hoda, Anton-Culver, Volker, Arndt, Matthias W, Beckmann, Alicia, Beeghly-Fadel, Javier, Benitez, Bram, Boeckx, Natalia V, Bogdanova, Stig E, Bojesen, Bernardo, Bonanni, Hiltrud, Brauch, Hermann, Brenner, Barbara, Burwinkel, Jenny, Chang-Claude, Don M, Conroy, Fergus J, Couch, Angela, Cox, Simon S, Cross, Kamila, Czene, Peter, Devilee, Thilo, Dörk, Mikael, Eriksson, Peter A, Fasching, Jonine, Figueroa, Olivia, Fletcher, Henrik, Flyger, Marike, Gabrielson, Montserrat, García-Closas, Graham G, Giles, Anna, González-Neira, Pascal, Guénel, Christopher A, Haiman, Per, Hall, Ute, Hamann, Mikael, Hartman, Jan, Hauke, Antoinette, Hollestelle, John L, Hopper, Anna, Jakubowska, Audrey, Jung, Veli-Matti, Kosma, Diether, Lambrechts, Loid, Le Marchand, Annika, Lindblom, Jan, Lubinski, Arto, Mannermaa, Sara, Margolin, Hui, Miao, Roger L, Milne, Susan L, Neuhausen, Heli, Nevanlinna, Janet E, Olson, Paolo, Peterlongo, Julian, Peto, Katri, Pylkäs, Elinor J, Sawyer, Marjanka K, Schmidt, Rita K, Schmutzler, Andreas, Schneeweiss, Minouk J, Schoemaker, Mee Hoong, See, Melissa C, Southey, Anthony, Swerdlow, Soo H, Teo, Amanda E, Toland, Ian, Tomlinson, Thérèse, Truong, Christi J, van Asperen, Ans M W, van den Ouweland, Lizet E, van der Kolk, Robert, Winqvist, Drakoulis, Yannoukakos, Wei, Zheng, Alison M, Dunning, Douglas F, Easton, Alex, Henderson, Frans B L, Hogervorst, Louise, Izatt, Kenneth, Offitt, Lucy E, Side, Elizabeth J, van Rensburg, Study, Embrace, Study, Hebon, Lesley, McGuffog, Antonis C, Antoniou, Georgia, Chenevix-Trench, Amanda B, Spurdle, David E, Goldgar, Miguel de la, Hoya, Paolo, Radice

Publikováno v: Human Mutation

Although the spliceogenic nature of the BRCA2 c.68‐7T > A variant has been demonstrated, its association with cancer risk remains controversial. In this study, we accurately quantified by real‐time PCR and digital PCR (dPCR), the BRCA2 isoforms r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::e295a194ff0f1c6983a63b84075e2791
https://pubmed.ncbi.nlm.nih.gov/29460995

Combined genetic and splicing analysis of BRCA1 c.[594-2A > C; 641A > G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms

Autor: Barbara Wappenschmidt, Fergus J. Couch, Norbert Arnold, Claude Houdayer, Manjeet K. Bolla, Omar Soukarieh, Sean V. Tavtigian, Irene L. Andrulis, Alexandra Becker, Alexandra Martins, Qin Wang, Sara Margolin, Paolo Radice, Janet E. Olson, Mitul Shah, Juul T. Wijnen, Amanda B. Spurdle, Nichola Johnson, Carole Brewer, Harald Surowy, Graham G. Giles, Ana Blanco, Kamila Czene, Thomas Hansen, Wendy S. Rubinstein, Anja Rudolph, Christian F. Singer, Antonis C. Antoniou, Douglas F. Easton, Fiona M. Blows, Michael T. Parsons, kConFab Investigators, Annika Lindblom, Nicola K. Poplawski, Melissa C. Southey, Emily Hallberg, Vanessa Lattimore, Yvette van Ierland, Logan C. Walker, Joe Dennis, Gord Glendon, Ana Vega, Diether Niederacher, Laurent Castera, David E. Goldgar, Ulrike Faust, Roger L. Milne, Marta Santamariña, Lesley McGuffog, Jan Hauke, Christi J. van Asperen, Michela Raponi, Irene López-Perolio, Diana Baralle, Tina Pesaran, Huong Meeks, Peter J. Hulick, Miguel de la Hoya, Philip Whiley, Raquel Behar, Jenny Chang-Claude, Elizabeth C. Chao, Henrik Flyger, Doris Steinemann, Pham Phuong Mai, Stig E. Bojesen, Maaike P.G. Vreeswijk, Sandrine M. Caputo, Jan Sullivan, Julian Peto, Barbara Burwinkel, Laura Galastri, Per Hall, Kyriaki Michailidou, Bernd Dworniczak

Publikováno v: Human Molecular Genetics
Human Molecular Genetics, 2016, 25 (11), pp.2256-2268. ⟨10.1093/hmg/ddw094⟩
Human Molecular Genetics, Oxford University Press (OUP), 2016, 25 (11), pp.2256-2268. ⟨10.1093/hmg/ddw094⟩
Human Molecular Genetics, 25(11), 2256-2268
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid

A recent analysis using family history weighting and co-observation classification modeling indicated that BRCA1 c.594-2A>C (IVS9-2A>C), previously described to cause exon 10 skipping (a truncating alteration), displays characteristics inconsistent w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f80b3e720ea177f5b64e9bec6f99516
https://hdl.handle.net/1887/112988