A global functional analysis of missense mutations reveals two major hotspots in the PALB2 tumor suppressor.

Autor: Rodrigue A; CHU de Québec-Université Laval, Oncology Division, 9 McMahon, Québec City, QC G1R 3S3, Canada.; Department of Molecular Biology, Medical Biochemistry and Pathology; Laval University Cancer Research Center, Québec City, QC G1V 0A6, Canada., Margaillan G; CHU de Québec-Université Laval Research Center, Genomics Center, Québec City, QC, Canada., Torres Gomes T; Instituto Nacional de Câncer, Centro de Pesquisa, Programa de Pesquisa Clínica, Rio de Janeiro, Brazil.; Instituto Federal do Rio de Janeiro, Laboratório de Genética Molecular, Maracanã, Rio de Janeiro, Brazil., Coulombe Y; CHU de Québec-Université Laval, Oncology Division, 9 McMahon, Québec City, QC G1R 3S3, Canada.; Department of Molecular Biology, Medical Biochemistry and Pathology; Laval University Cancer Research Center, Québec City, QC G1V 0A6, Canada., Montalban G; CHU de Québec-Université Laval, Oncology Division, 9 McMahon, Québec City, QC G1R 3S3, Canada.; Department of Molecular Biology, Medical Biochemistry and Pathology; Laval University Cancer Research Center, Québec City, QC G1V 0A6, Canada.; CHU de Québec-Université Laval Research Center, Genomics Center, Québec City, QC, Canada., da Costa E Silva Carvalho S; CHU de Québec-Université Laval, Oncology Division, 9 McMahon, Québec City, QC G1R 3S3, Canada.; Instituto Nacional de Câncer, Centro de Pesquisa, Programa de Pesquisa Clínica, Rio de Janeiro, Brazil.; Department of Genetics at Ribeirão Preto Medical School, University of São Paulo; Center for Cell-Based Therapy (CEPID/FAPESP); National Institute of Science and Technology in Stem Cell and Cell Therapy (INCTC/CNPq), Ribeirão Preto, SP, Brazil., Milano L; CHU de Québec-Université Laval, Oncology Division, 9 McMahon, Québec City, QC G1R 3S3, Canada.; Department of Molecular Biology, Medical Biochemistry and Pathology; Laval University Cancer Research Center, Québec City, QC G1V 0A6, Canada., Ducy M; CHU de Québec-Université Laval, Oncology Division, 9 McMahon, Québec City, QC G1R 3S3, Canada.; Department of Molecular Biology, Medical Biochemistry and Pathology; Laval University Cancer Research Center, Québec City, QC G1V 0A6, Canada.; CHU de Québec-Université Laval Research Center, Genomics Center, Québec City, QC, Canada., De-Gregoriis G; Instituto Nacional de Câncer, Centro de Pesquisa, Programa de Pesquisa Clínica, Rio de Janeiro, Brazil.; Instituto Federal do Rio de Janeiro, Laboratório de Genética Molecular, Maracanã, Rio de Janeiro, Brazil., Dellaire G; Department of Pathology, Dalhousie University, Halifax, NS, Canada., Araújo da Silva W Jr; Department of Genetics at Ribeirão Preto Medical School, University of São Paulo; Center for Cell-Based Therapy (CEPID/FAPESP); National Institute of Science and Technology in Stem Cell and Cell Therapy (INCTC/CNPq), Ribeirão Preto, SP, Brazil., Monteiro AN; H. Lee Moffitt Cancer Center & Research Institute, Tampa, FL, USA., Carvalho MA; Instituto Nacional de Câncer, Centro de Pesquisa, Programa de Pesquisa Clínica, Rio de Janeiro, Brazil.; Instituto Federal do Rio de Janeiro, Laboratório de Genética Molecular, Maracanã, Rio de Janeiro, Brazil., Simard J; CHU de Québec-Université Laval Research Center, Genomics Center, Québec City, QC, Canada., Masson JY; CHU de Québec-Université Laval, Oncology Division, 9 McMahon, Québec City, QC G1R 3S3, Canada.; Department of Molecular Biology, Medical Biochemistry and Pathology; Laval University Cancer Research Center, Québec City, QC G1V 0A6, Canada.

Publikováno v: Nucleic acids research [Nucleic Acids Res] 2019 Nov 18; Vol. 47 (20), pp. 10662-10677.

KAT2-mediated acetylation switches the mode of PALB2 chromatin association to safeguard genome integrity.

Autor: Fournier, Marjorie, Rodrigue, Amélie, Milano, Larissa, Bleuyard, Jean-Yves, Couturier, Anthony M., Wall, Jacob, Ellins, Jessica, Hester, Svenja, Smerdon, Stephen J., Tora, László, Masson, Jean-Yves, Esashi, Fumiko

Publikováno v: eLife; 11/17/2022, p1-34, 34p

Splicing predictions, minigene analyses, and ACMG‐AMP clinical classification of 42 germline PALB2 splice‐site variants.

Autor: Valenzuela‐Palomo, Alberto, Bueno‐Martínez, Elena, Sanoguera‐Miralles, Lara, Lorca, Víctor, Fraile‐Bethencourt, Eugenia, Esteban‐Sánchez, Ada, Gómez‐Barrero, Susana, Carvalho, Sara, Allen, Jamie, García‐Álvarez, Alicia, Pérez‐Segura, Pedro, Dorling, Leila, Easton, Douglas F, Devilee, Peter, Vreeswijk, Maaike PG, de la Hoya, Miguel, Velasco, Eladio A

Publikováno v: Journal of Pathology; Mar2022, Vol. 256 Issue 3, p321-334, 14p

The p.Ser64Leu and p.Pro104Leu missense variants of PALB2 identified in familial pancreatic cancer patients compromise the DNA damage response.

Autor: Zhang, Yue, Park, Jung‐Young, Zhang, Fan, Olson, Sara H., Orlow, Irene, Li, Yirong, Kurtz, Robert C., Ladanyi, Marc, Chen, Jie, Toland, Amanda E., Zhang, Liying, Andreassen, Paul R.

Publikováno v: Human Mutation; Feb2021, Vol. 42 Issue 2, p150-163, 14p

Rare Germline Pathogenic Variants Identified by Multigene Panel Testing and the Risk of Aggressive Prostate Cancer.

Autor: Nguyen-Dumont, Tú^1,2 (AUTHOR) tu.nguyen-dumont@monash.edu, Dowty, James G.³ (AUTHOR) jdowty@unimelb.edu.au, MacInnis, Robert J.^3,4 (AUTHOR) Robert.MacInnis@cancervic.org.au, Steen, Jason A.¹ (AUTHOR) Jason.Steen@monash.edu, Riaz, Moeen⁵ (AUTHOR) Moeen.Riaz@monash.edu, Dugué, Pierre-Antoine^1,3,4 (AUTHOR) pierre-antoine.dugue@monash.edu, Renault, Anne-Laure¹ (AUTHOR) Anne-Laure.Renault@monash.edu, Hammet, Fleur¹ (AUTHOR) Fleur.Hammet@monash.edu, Mahmoodi, Maryam¹ (AUTHOR) Maryam.Mahmoodi@monash.edu, Theys, Derrick¹ (AUTHOR) Derrick.Theys@monash.edu, Tsimiklis, Helen¹ (AUTHOR) Helen.Tsimiklis@monash.edu, Severi, Gianluca^6,7 (AUTHOR) gianluca.severi@inserm.fr, Bolton, Damien⁸ (AUTHOR) damien.bolton@unimelb.edu.au, Lacaze, Paul⁵ (AUTHOR) Paul.Lacaze@monash.edu, Sebra, Robert⁹ (AUTHOR) robert.sebra@mssm.edu, Schadt, Eric⁹ (AUTHOR) eric.schadt@mssm.edu, McNeil, John⁵ (AUTHOR) John.McNeil@monash.edu, Giles, Graham G.^1,3,4 (AUTHOR) Graham.Giles@cancervic.org.au, Milne, Roger L.^1,3,4 (AUTHOR) Roger.Milne@cancervic.org.au, Southey, Melissa C.^1,2,6 (AUTHOR) Melissa.Southey@monash.edu

Publikováno v: Cancers. Apr2021, Vol. 13 Issue 7, p1495-1495. 1p.