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Items: 1 to 20 of 85

1.
SNV/indel hypermutator phenotype in biallelic RAD51C variant - Fanconi anemia
Roni Zemet, Haowei Du, Tomasz Gambin, James R Lupski, Pengfei Liu, Paweł Stankiewicz
Hum Genet. Author manuscript; available in PMC 2024 Jun 1.
Published in final edited form as: Hum Genet. 2023 Jun; 142(6): 721–733. Published online 2023 Apr 9. doi: 10.1007/s00439-023-02550-4
PMCID:
PMC10996436
AbstractArticlePDF–1.0M
2.
The Eyes Absent family members EYA4 and EYA1 promote PLK1 activation and successful mitosis through tyrosine dephosphorylation
Christopher B. Nelson, Samuel Rogers, Kaushik Roychoudhury, Yaw Sing Tan, Caroline J. Atkinson, Alexander P. Sobinoff, Christopher G. Tomlinson, Anton Hsu, Robert Lu, Eloise Dray, Michelle Haber, Jamie I. Fletcher, Anthony J. Cesare, Rashmi S. Hegde, Hilda A. Pickett
Nat Commun. 2024; 15: 1385. Published online 2024 Feb 15. doi: 10.1038/s41467-024-45683-4
PMCID:
PMC10869800
AbstractArticlePDF–9.3M
3.
Structural insights into BCDX2 complex function in homologous recombination
Yashpal Rawal, Lijia Jia, Aviv Meir, Shuo Zhou, Hardeep Kaur, Eliza A. Ruben, Youngho Kwon, Kara A. Bernstein, Maria Jasin, Alexander B. Taylor, Sandeep Burma, Robert Hromas, Alexander V. Mazin, Weixing Zhao, Daohong Zhou, Elizabeth V. Wasmuth, Eric C. Greene, Patrick Sung, Shaun K. Olsen
Nature. Author manuscript; available in PMC 2024 Jul 1.
Published in final edited form as: Nature. 2023 Jul; 619(7970): 640–649. Published online 2023 Jun 21. doi: 10.1038/s41586-023-06219-w
PMCID:
PMC10712684
AbstractArticlePDF–9.7M
4.
Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51C
Chunling Hu, Anil Belur Nagaraj, Hermela Shimelis, Gemma Montalban, Kun Y. Lee, Huaizhi Huang, Carolyn A. Lumby, Jie Na, Lisa R. Susswein, Maegan E. Roberts, Megan L. Marshall, Susan Hiraki, Holly LaDuca, Elizabeth Chao, Amal Yussuf, Tina Pesaran, Susan L. Neuhausen, Christopher A. Haiman, Peter Kraft, Sara Lindstrom, Julie R. Palmer, Lauren R. Teras, Celine M. Vachon, Song Yao, Irene Ong, Katherine L. Nathanson, Jeffrey N. Weitzel, Nicholas Boddicker, Rohan Gnanaolivu, Eric C. Polley, Georges Mer, Gaofeng Cui, Rachid Karam, Marcy E. Richardson, Susan M. Domchek, Siddhartha Yadav, Kathleen S. Hruska, Jill Dolinsky, S. John Weroha, Steven N. Hart, Jacques Simard, Jean Yves Masson, Yuan-Ping Pang, Fergus J. Couch
Cancer Res. 2023 Aug 1; 83(15): 2557–2571. Published online 2023 May 30. doi: 10.1158/0008-5472.CAN-22-2319
PMCID:
PMC10390864
AbstractArticlePDF–20M
5.
RAD51C-XRCC3 structure and cancer patient mutations define DNA replication roles
Michael A. Longo, Sunetra Roy, Yue Chen, Karl-Heinz Tomaszowski, Andrew S. Arvai, Jordan T. Pepper, Rebecca A. Boisvert, Selvi Kunnimalaiyaan, Caezanne Keshvani, David Schild, Albino Bacolla, Gareth J. Williams, John A. Tainer, Katharina Schlacher
Nat Commun. 2023; 14: 4445. Published online 2023 Jul 24. doi: 10.1038/s41467-023-40096-1
PMCID:
PMC10366140
AbstractArticlePDF–5.2M
6.
UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2
Helen Hanson, Anjana Kulkarni, Lucy Loong, Grace Kavanaugh, Bethany Torr, Sophie Allen, Munaza Ahmed, Antonis C Antoniou, Ruth Cleaver, Tabib Dabir, D Gareth Evans, Ellen Golightly, Rosalyn Jewell, Kelly Kohut, Ranjit Manchanda, Alex Murray, Jennie Murray, Kai-Ren Ong, Adam N Rosenthal, Emma Roisin Woodward, Diana M Eccles, Clare Turnbull, Marc Tischkowitz, On behalf of Consensus meeting attendees, Fiona Lalloo
J Med Genet. 2023 May; 60(5): 417–429. Published online 2022 Nov 21. doi: 10.1136/jmg-2022-108898
PMCID:
PMC10176381
AbstractArticlePDF–583K
7.
Enhancing the BOADICEA cancer risk prediction model to incorporate new data on RAD51C, RAD51D, BARD1 updates to tumour pathology and cancer incidence
Andrew Lee, Nasim Mavaddat, Alex Cunningham, Tim Carver, Lorenzo Ficorella, Stephanie Archer, Fiona M Walter, Marc Tischkowitz, Jonathan Roberts, Juliet Usher-Smith, Jacques Simard, Marjanka K Schmidt, Peter Devilee, Vesna Zadnik, Hannes Jürgens, Emmanuelle Mouret-Fourme, Antoine De Pauw, Matti Rookus, Thea M Mooij, Paul PD Pharoah, Douglas F Easton, Antonis C Antoniou
J Med Genet. 2022 Dec; 59(12): 1206–1218. Published online 2022 Sep 26. doi: 10.1136/jmedgenet-2022-108471
PMCID:
PMC9691826
AbstractArticlePDF–3.6M
8.
Homologous recombination–deficient mutation cluster in tumor suppressor RAD51C identified by comprehensive analysis of cancer variants
Rohit Prakash, Yashpal Rawal, Meghan R. Sullivan, McKenzie K. Grundy, Hélène Bret, Michael J. Mihalevic, Hayley L. Rein, Jared M. Baird, Kristie Darrah, Fang Zhang, Raymond Wang, Tiffany A. Traina, Marc R. Radke, Scott H. Kaufmann, Elizabeth M. Swisher, Raphaël Guérois, Mauro Modesti, Patrick Sung, Maria Jasin, Kara A. Bernstein
Proc Natl Acad Sci U S A. 2022 Sep 20; 119(38): e2202727119. Published online 2022 Sep 13. doi: 10.1073/pnas.2202727119
PMCID:
PMC9499524
AbstractArticlePDF–2.9M
9.
LncRNA CTBP1-DT-encoded microprotein DDUP sustains DNA damage response signalling to trigger dual DNA repair mechanisms
Ruyuan Yu, Yameng Hu, Shuxia Zhang, Xincheng Li, Miaoling Tang, Meisongzhu Yang, Xingui Wu, Ziwen Li, Xinyi Liao, Yingru Xu, Man Li, Suwen Chen, Wanying Qian, Li-Yun Gong, Libing Song, Jun Li
Nucleic Acids Res. 2022 Aug 12; 50(14): 8060–8079. Published online 2022 Jul 18. doi: 10.1093/nar/gkac611
PMCID:
PMC9371908
AbstractArticlePDF–13M
10.
Cullin 3 Exon 9 Deletion in Familial Hyperkalemic Hypertension Impairs Cullin3-Ring-E3 Ligase (CRL3) Dynamic Regulation and Cycling
Ilektra Kouranti, Waed Abdel Khalek, Stephani Mazurkiewicz, Irmine Loisel-Ferreira, Alexis M. Gautreau, Lionel Pintard, Xavier Jeunemaitre, Eric Clauser
Int J Mol Sci. 2022 May; 23(9): 5151. Published online 2022 May 5. doi: 10.3390/ijms23095151
PMCID:
PMC9105235
AbstractArticlePDF–5.8M
11.
A protein interaction landscape of breast cancer
Minkyu Kim, Jisoo Park, Mehdi Bouhaddou, Kyumin Kim, Ajda Rojc, Maya Modak, Margaret Soucheray, Michael J. McGregor, Patrick O’Leary, Denise Wolf, Erica Stevenson, Tzeh Keong Foo, Dominique Mitchell, Kari A. Herrington, Denise P. Muñoz, Beril Tutuncuoglu, Kuei-Ho Chen, Fan Zheng, Jason F. Kreisberg, Morgan E. Diolaiti, John D. Gordan, Jean-Philippe Coppé, Danielle L. Swaney, Bing Xia, Laura van ’t Veer, Alan Ashworth, Trey Ideker, Nevan Krogan
Science. Author manuscript; available in PMC 2022 Apr 26.
Published in final edited form as: Science. 2021 Oct; 374(6563): eabf3066. Published online 2021 Oct 1. doi: 10.1126/science.abf3066
PMCID:
PMC9040556
AbstractArticlePDF–2.2M
12.
TAZ maintains telomere length in TNBC cells by mediating Rad51C expression
Lu Yang, Bo Wang, Xinyan Jiao, Can Zhou, Su Chen, Xiaoqian Gao, Wei Sun, Shaoran Song, Juan Li, Jie Liu, Yaochun Wang, Peijun Liu
Breast Cancer Res. 2021; 23: 89. Published online 2021 Sep 6. doi: 10.1186/s13058-021-01466-z
PMCID:
PMC8422726
AbstractArticlePDF–5.7M
13.
Integrative oncogene-dependency mapping identifies RIT1 vulnerabilities and synergies in lung cancer
Athea Vichas, Amanda K. Riley, Naomi T. Nkinsi, Shriya Kamlapurkar, Phoebe C. R. Parrish, April Lo, Fujiko Duke, Jennifer Chen, Iris Fung, Jacqueline Watson, Matthew Rees, Austin M. Gabel, James D. Thomas, Robert K. Bradley, John K. Lee, Emily M. Hatch, Marina K. Baine, Natasha Rekhtman, Marc Ladanyi, Federica Piccioni, Alice H. Berger
Nat Commun. 2021; 12: 4789. Published online 2021 Aug 9. doi: 10.1038/s41467-021-24841-y
PMCID:
PMC8352964
AbstractArticlePDF–4.5M
14.
Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome
Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2022 May 27.
Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011
PMCID:
PMC8165030
AbstractArticlePDF–2.2M
15.
Long-term survival of an ovarian cancer patient harboring a RAD51C missense mutation
Meghan R. Sullivan, Rohit Prakash, Yashpal Rawal, Weibin Wang, Patrick Sung, Marc R. Radke, Scott H. Kaufmann, Elizabeth M. Swisher, Kara A. Bernstein, Maria Jasin
Cold Spring Harb Mol Case Stud. 2021 Apr; 7(2): a006083. doi: 10.1101/mcs.a006083
PMCID:
PMC8040731
AbstractArticlePDF–1.8M
16.
In silico APC/C substrate discovery reveals cell cycle-dependent degradation of UHRF1 and other chromatin regulators
Jennifer L. Franks, Raquel C. Martinez-Chacin, Xianxi Wang, Rochelle L. Tiedemann, Thomas Bonacci, Rajarshi Choudhury, Derek L. Bolhuis, Taylor P. Enrico, Ryan D. Mouery, Jeffrey S. Damrauer, Feng Yan, Joseph S. Harrison, M. Ben Major, Katherine A. Hoadley, Aussie Suzuki, Scott B. Rothbart, Nicholas G. Brown, Michael J. Emanuele
PLoS Biol. 2020 Dec; 18(12): e3000975. Published online 2020 Dec 11. doi: 10.1371/journal.pbio.3000975
PMCID:
PMC7758050
AbstractArticlePDF–4.2M
17.
Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in RAD51C and RAD51D
Xin Yang, Honglin Song, Goska Leslie, Christoph Engel, Eric Hahnen, Bernd Auber, Judit Horváth, Karin Kast, Dieter Niederacher, Clare Turnbull, Richard Houlston, Helen Hanson, Chey Loveday, Jill S Dolinsky, Holly LaDuca, Susan J Ramus, Usha Menon, Adam N Rosenthal, Ian Jacobs, Simon A Gayther, Ed Dicks, Heli Nevanlinna, Kristiina Aittomäki, Liisa M Pelttari, Hans Ehrencrona, Åke Borg, Anders Kvist, Barbara Rivera, Thomas V O Hansen, Malene Djursby, Andrew Lee, Joe Dennis, David D Bowtell, Nadia Traficante, Orland Diez, Judith Balmaña, Stephen B Gruber, Georgia Chenevix-Trench, kConFab Investigators, Allan Jensen, Susanne K Kjær, Estrid Høgdall, Laurent Castéra, Judy Garber, Ramunas Janavicius, Ana Osorio, Lisa Golmard, Ana Vega, Fergus J Couch, Mark Robson, Jacek Gronwald, Susan M Domchek, Julie O Culver, Miguel de la Hoya, Douglas F Easton, William D Foulkes, Marc Tischkowitz, Alfons Meindl, Rita K Schmutzler, Paul D P Pharoah, Antonis C Antoniou
J Natl Cancer Inst. 2020 Dec; 112(12): 1242–1250. Published online 2020 Feb 28. doi: 10.1093/jnci/djaa030
PMCID:
PMC7735771
AbstractArticlePDF–1.8M
18.
Structure and function of the RAD51B-RAD51C-RAD51D-XRCC2 tumour suppressor
Luke A. Greenhough, Chih-Chao Liang, Ondrej Belan, Simone Kunzelmann, Sarah Maslen, Monica C. Rodrigo-Brenni, Roopesh Anand, Mark Skehel, Simon J. Boulton, Stephen C. West
Nature. Author manuscript; available in PMC 2023 Jul 20.
Published in final edited form as: Nature. 2023 Jun 21; 619(7970): 650–657. Published online 2023 Jun 21. doi: 10.1038/s41586-023-06179-1
PMCID:
PMC7614784
AbstractArticlePDF–8.2M
19.
Sequential role of RAD51 paralog complexes in replication fork remodeling and restart
Matteo Berti, Federico Teloni, Sofija Mijic, Sebastian Ursich, Jevgenij Fuchs, Maria Dilia Palumbieri, Jana Krietsch, Jonas A. Schmid, Edwige B. Garcin, Stéphanie Gon, Mauro Modesti, Matthias Altmeyer, Massimo Lopes
Nat Commun. 2020; 11: 3531. Published online 2020 Jul 15. doi: 10.1038/s41467-020-17324-z
PMCID:
PMC7363682
AbstractArticlePDF–2.1M
20.
BRIP1, RAD51C, and RAD51D mutations are associated with high susceptibility to ovarian cancer: mutation prevalence and precise risk estimates based on a pooled analysis of ~30,000 cases
Malwina Suszynska, Magdalena Ratajska, Piotr Kozlowski
J Ovarian Res. 2020; 13: 50. Published online 2020 May 2. doi: 10.1186/s13048-020-00654-3
PMCID:
PMC7196220
AbstractArticlePDF–1024K

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