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Items: 1 to 20 of 53

1.
Distinct Roles of FANCO/RAD51C Protein in DNA Damage Signaling and Repair: IMPLICATIONS FOR FANCONI ANEMIA AND BREAST CANCER SUSCEPTIBILITY
Kumar Somyajit, Shreelakshmi Subramanya, Ganesh Nagaraju
J Biol Chem. 2012 Jan 27; 287(5): 3366–3380. Published online 2011 Dec 13. doi: 10.1074/jbc.M111.311241
Correction in:
J Biol Chem. 2019 Aug 30; 294(35): 13198.
PMCID:
PMC3270991
AbstractArticlePDF–4.5M
2.
Hypomorphic Brca2 and Rad51c double mutant mice display Fanconi anemia, cancer and polygenic replication stress
Karl-Heinz Tomaszowski, Sunetra Roy, Carolina Guerrero, Poojan Shukla, Caezaan Keshvani, Yue Chen, Martina Ott, Xiaogang Wu, Jianhua Zhang, Courtney D. DiNardo, Detlev Schindler, Katharina Schlacher
Nat Commun. 2023; 14: 1333. Published online 2023 Mar 11. doi: 10.1038/s41467-023-36933-y
Correction in:
Nat Commun. 2024; 15: 2214.
PMCID:
PMC10008622
AbstractArticlePDF–3.0M
3.
Pancytopenia and Thrombosis Defects in Zebrafish Mutants of Fanconi Anemia Genes
Revathi Raman, Ramanagouda Ramanagoudr-Bhojappa, Sanchi Dhinoja, Mukundhan Ramaswami, Blake Carrington, Pudur Jagadeeswaran, Settara C. Chandrasekharappa
Blood Cells Mol Dis. Author manuscript; available in PMC 2023 Mar 1.
Published in final edited form as: Blood Cells Mol Dis. 2022 Mar; 93: 102640. Published online 2021 Dec 29. doi: 10.1016/j.bcmd.2021.102640
PMCID:
PMC8760166
AbstractArticlePDF–829K
4.
Multiplexed CRISPR/Cas9-mediated knockout of 19 Fanconi anemia pathway genes in zebrafish revealed their roles in growth, sexual development and fertility
Ramanagouda Ramanagoudr-Bhojappa, Blake Carrington, Mukundhan Ramaswami, Kevin Bishop, Gabrielle M. Robbins, MaryPat Jones, Ursula Harper, Stephen C. Frederickson, Danielle C. Kimble, Raman Sood, Settara C. Chandrasekharappa
PLoS Genet. 2018 Dec; 14(12): e1007821. Published online 2018 Dec 12. doi: 10.1371/journal.pgen.1007821
PMCID:
PMC6328202
AbstractArticlePDF–4.3M
5.
Polymorphic variations in the FANCA gene in high‐risk non‐BRCA1/2 breast cancer individuals from the French Canadian population
Nadhir Litim, Yvan Labrie, Sylvie Desjardins, Geneviève Ouellette, Karine Plourde, Pascal Belleau, INHERIT BRCAs, Francine Durocher
Mol Oncol. 2013 Feb; 7(1): 85–100. Published online 2012 Sep 11. doi: 10.1016/j.molonc.2012.08.002
PMCID:
PMC5528405
AbstractArticlePDF–750K
6.
COMPLEMENTATION OF HYPERSENSITIVITY TO DNA INTERSTRAND CROSSLINKING AGENTS DEMONSTRATES THAT XRCC2 IS A FANCONI ANEMIA GENE
Jung-Young Park, Elizabeth L. Virts, Anna Jankowska, Constanze Wiek, Mohamed Othman, Sujata C. Chakraborty, Gail H. Vance, Fowzan S. Alkuraya, Helmut Hanenberg, Paul R. Andreassen
J Med Genet. Author manuscript; available in PMC 2017 Oct 1.
Published in final edited form as: J Med Genet. 2016 Oct; 53(10): 672–680. Published online 2016 May 20. doi: 10.1136/jmedgenet-2016-103847
PMCID:
PMC5035190
AbstractArticlePDF–1.2M
7.
Overexpression of Rad51C splice variants in colorectal tumors
Arjun Kalvala, Li Gao, Brittany Aguila, Tyler Reese, Gregory A. Otterson, Miguel A. Villalona-Calero, Wenrui Duan
Oncotarget. 2015 Apr 20; 6(11): 8777–8787. Published online 2014 Dec 30. doi: 10.18632/oncotarget.3209
PMCID:
PMC4496183
AbstractArticlePDF–968K
8.
BREAST CANCER-ASSOCIATED MISSENSE MUTANTS OF THE PALB2 WD40 DOMAIN, WHICH DIRECTLY BINDS RAD51C, RAD51 AND BRCA2, DISRUPT DNA REPAIR
Jung-Young Park, Thiyam R. Singh, Nicolas Nassar, Fan Zhang, Marcel Freund, Helmut Hanenberg, Amom Ruhikanta Meetei, Paul R. Andreassen
Oncogene. Author manuscript; available in PMC 2015 Apr 2.
Published in final edited form as: Oncogene. 2014 Oct 2; 33(40): 4803–4812. Published online 2013 Oct 21. doi: 10.1038/onc.2013.421
PMCID:
PMC3994186
AbstractArticlePDF–1.2M
9.
A Protein Prioritization Approach Tailored for the FA/BRCA Pathway
Anneke Haitjema, Bernd W. Brandt, Najim Ameziane, Patrick May, Jaap Heringa, Johan P. de Winter, Hans Joenje, Josephine C. Dorsman
PLoS One. 2013; 8(4): e62017. Published online 2013 Apr 19. doi: 10.1371/journal.pone.0062017
Correction in:
PLoS One. 2013; 8(10): 10.1371/annotation/bd2ee3f6-0f2b-4814-9825-7b90a40fb91f.
PMCID:
PMC3631253
AbstractArticlePDF–644K
10.
Spectrum of Germline Mutations Within Fanconi Anemia–Associated Genes Across Populations of Varying Ancestry
Sock Hoai Chan, Ying Ni, Shao-Tzu Li, Jing Xian Teo, Nur Diana Binte Ishak, Weng Khong Lim, Joanne Ngeow
JNCI Cancer Spectr. 2021 Feb; 5(1): pkaa117. Published online 2021 Feb 22. doi: 10.1093/jncics/pkaa117
PMCID:
PMC7919334
AbstractArticlePDF–1.5M
11.
The Simple Chordate Ciona intestinalis Has a Reduced Complement of Genes Associated with Fanconi Anemia
Edward C. Stanley, Paul A. Azzinaro, David A. Vierra, Niall G. Howlett, Steven Q. Irvine
Evol Bioinform Online. 2016; 12: 133–148. Published online 2016 Jun 6. doi: 10.4137/EBO.S37920
PMCID:
PMC4898443
AbstractArticlePDF–5.4M
12.
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
13.
Mutation spectrum, expression profiling, and prognosis evaluation of Fanconi anemia signaling pathway genes for 4259 patients with myelodysplastic syndromes or acute myeloid leukemia
Lixian Chang, Li Zhang, Beibei Zhao, Xuelian Cheng, Yang Wan, Ranran Zhang, Weiping Yuan, Xingjie Gao, Xiaofan Zhu
BMC Med Genomics. 2023; 16: 290. Published online 2023 Nov 16. doi: 10.1186/s12920-023-01730-5
PMCID:
PMC10652513
AbstractArticlePDF–11M
14.
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
15.
Molecular Genetic Characteristics of FANCI, a Proposed New Ovarian Cancer Predisposing Gene
Caitlin T. Fierheller, Wejdan M. Alenezi, Corinne Serruya, Timothée Revil, Setor Amuzu, Karine Bedard, Deepak N. Subramanian, Eleanor Fewings, Jeffrey P. Bruce, Stephenie Prokopec, Luigi Bouchard, Diane Provencher, William D. Foulkes, Zaki El Haffaf, Anne-Marie Mes-Masson, Marc Tischkowitz, Ian G. Campbell, Trevor J. Pugh, Celia M. T. Greenwood, Jiannis Ragoussis, Patricia N. Tonin
Genes (Basel) 2023 Feb; 14(2): 277. Published online 2023 Jan 20. doi: 10.3390/genes14020277
PMCID:
PMC9956348
AbstractArticlePDF–1.4M
16.
Comprehensive mutational analysis of the BRCA1-associated DNA helicase and tumor suppressor, FANCJ/BACH1/BRIP1
Jennifer A Calvo, Briana Fritchman, Desiree Hernandez, Nicole S Persky, Cory M Johannessen, Federica Piccioni, Brian A. Kelch, Sharon B Cantor
Mol Cancer Res. Author manuscript; available in PMC 2021 Dec 1.
Published in final edited form as: Mol Cancer Res. 2021 Jun; 19(6): 1015–1025. Published online 2021 Feb 22. doi: 10.1158/1541-7786.MCR-20-0828
PMCID:
PMC8178215
AbstractArticlePDF–1.4M
17.
Age of ovarian cancer diagnosis among BRIP1, RAD51C, and RAD51D mutation carriers identified through multi-gene panel testing
Shelly Cummings, Susana San Roman, Jennifer Saam, Ryan Bernhisel, Krystal Brown, Johnathan M. Lancaster, Lydia Usha
J Ovarian Res. 2021; 14: 61. Published online 2021 Apr 29. doi: 10.1186/s13048-021-00809-w
PMCID:
PMC8086272
AbstractArticlePDF–592K
18.
Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer
Honglin Song, Ed M Dicks, Jonathan Tyrer, Maria Intermaggio, Georgia Chenevix-Trench, David D Bowtell, Nadia Traficante, AOCS Group, James Brenton, Teodora Goranova, Karen Hosking, Anna Piskorz, Elke van Oudenhove, Jen Doherty, Holly R Harris, Mary Anne Rossing, Matthias Duerst, Thilo Dork, Natalia V Bogdanova, Francesmary Modugno, Kirsten Moysich, Kunle Odunsi, Roberta Ness, Beth Y Karlan, Jenny Lester, Allan Jensen, Susanne Krüger Kjaer, Estrid Høgdall, Ian G Campbell, Conxi Lázaro, Miguel Angel Pujara, Julie Cunningham, Robert Vierkant, Stacey J Winham, Michelle Hildebrandt, Chad Huff, Donghui Li, Xifeng Wu, Yao Yu, Jennifer B Permuth, Douglas A Levine, Joellen M Schildkraut, Marjorie J Riggan, Andrew Berchuck, Penelope M Webb, OPAL Study Group, Cezary Cybulski, Jacek Gronwald, Anna Jakubowska, Jan Lubinski, Jennifer Alsop, Patricia Harrington, Isaac Chan, Usha Menon, Celeste L Pearce, Anna H Wu, Anna de Fazio, Catherine J Kennedy, Ellen Goode, Susan Ramus, Simon Gayther, Paul Pharoah
J Med Genet. 2021 May; 58(5): 305–313. Published online 2020 Jun 16. doi: 10.1136/jmedgenet-2019-106739
PMCID:
PMC8086250
AbstractArticlePDF–472K
19.
Utility of a mainstreamed genetic testing pathway in breast and ovarian cancer patients during the COVID-19 pandemic
Patrick R. Benusiglio, Clément Korenbaum, Roseline Vibert, Joël Ezenfis, Sophie Geoffron, Charlotte Paul, Sandrine Richard, Veronique Byrde, Manon Lejeune, Erell Guillerm, Noemie Basset, Jean-Pierre Lotz, Nathalie Chabbert-Buffet, Joseph Gligorov, Florence Coulet
Eur J Med Genet. 2020 Dec; 63(12): 104098. Published online 2020 Nov 10. doi: 10.1016/j.ejmg.2020.104098
PMCID:
PMC7654320
AbstractArticlePDF–1.4M
20.
Pan-cancer landscape of homologous recombination deficiency
Luan Nguyen, John W. M. Martens, Arne Van Hoeck, Edwin Cuppen
Nat Commun. 2020; 11: 5584. Published online 2020 Nov 4. doi: 10.1038/s41467-020-19406-4
PMCID:
PMC7643118
AbstractArticlePDF–1.5M

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