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Page 1
A decade of RAD51C and RAD51D germline variants in cancer.
Boni J, Idani A, Roca C, Feliubadaló L, Tomiak E, Weber E, Foulkes WD, Orthwein A, El Haffaf Z, Lazaro C, Rivera B. Boni J, et al. Among authors: orthwein a. Hum Mutat. 2022 Mar;43(3):285-298. doi: 10.1002/humu.24319. Epub 2021 Dec 30. Hum Mutat. 2022. PMID: 34923718 Review.
Functionally Null RAD51D Missense Mutation Associates Strongly with Ovarian Carcinoma.
Rivera B, Di Iorio M, Frankum J, Nadaf J, Fahiminiya S, Arcand SL, Burk DL, Grapton D, Tomiak E, Hastings V, Hamel N, Wagener R, Aleynikova O, Giroux S, Hamdan FF, Dionne-Laporte A, Zogopoulos G, Rousseau F, Berghuis AM, Provencher D, Rouleau GA, Michaud JL, Mes-Masson AM, Majewski J, Bens S, Siebert R, Narod SA, Akbari MR, Lord CJ, Tonin PN, Orthwein A, Foulkes WD. Rivera B, et al. Among authors: orthwein a. Cancer Res. 2017 Aug 15;77(16):4517-4529. doi: 10.1158/0008-5472.CAN-17-0190. Epub 2017 Jun 23. Cancer Res. 2017. PMID: 28646019
A mutational signature reveals alterations underlying deficient homologous recombination repair in breast cancer.
Polak P, Kim J, Braunstein LZ, Karlic R, Haradhavala NJ, Tiao G, Rosebrock D, Livitz D, Kübler K, Mouw KW, Kamburov A, Maruvka YE, Leshchiner I, Lander ES, Golub TR, Zick A, Orthwein A, Lawrence MS, Batra RN, Caldas C, Haber DA, Laird PW, Shen H, Ellisen LW, D'Andrea AD, Chanock SJ, Foulkes WD, Getz G. Polak P, et al. Among authors: orthwein a. Nat Genet. 2017 Oct;49(10):1476-1486. doi: 10.1038/ng.3934. Epub 2017 Aug 21. Nat Genet. 2017. PMID: 28825726 Free PMC article.
Common clonal origin of chronic myelomonocytic leukemia and B-cell acute lymphoblastic leukemia in a patient with a germline CHEK2 variant.
Bazinet A, Heath J, Chong AS, Simo-Cheyou ER, Worme S, Rivera Polo B, Foulkes WD, Caplan S, Johnson NA, Orthwein A, Mercier FE. Bazinet A, et al. Among authors: orthwein a. Cold Spring Harb Mol Case Stud. 2021 Jun 11;7(3):a006090. doi: 10.1101/mcs.a006090. Print 2021 Jun. Cold Spring Harb Mol Case Stud. 2021. PMID: 33986034 Free PMC article.
Current gene panels account for nearly all homologous recombination repair-associated multiple-case breast cancer families.
Matis TS, Zayed N, Labraki B, de Ladurantaye M, Matis TA, Camacho Valenzuela J, Hamel N, Atayan A, Rivera B, Tabach Y, Tonin PN, Orthwein A, Mes-Masson AM, El Haffaf Z, Foulkes WD, Polak P. Matis TS, et al. Among authors: orthwein a. NPJ Breast Cancer. 2021 Aug 25;7(1):109. doi: 10.1038/s41523-021-00315-8. NPJ Breast Cancer. 2021. PMID: 34433815 Free PMC article.
Multi-omics data integration analysis identifies the spliceosome as a key regulator of DNA double-strand break repair.
Sherill-Rofe D, Raban O, Findlay S, Rahat D, Unterman I, Samiei A, Yasmeen A, Kaiser Z, Kuasne H, Park M, Foulkes WD, Bloch I, Zick A, Gotlieb WH, Tabach Y, Orthwein A. Sherill-Rofe D, et al. Among authors: orthwein a. NAR Cancer. 2022 Apr 8;4(2):zcac013. doi: 10.1093/narcan/zcac013. eCollection 2022 Jun. NAR Cancer. 2022. PMID: 35399185 Free PMC article.
Systematic proximal mapping of the classical RAD51 paralogs unravel functionally and clinically relevant interactors for genome stability.
Simo Cheyou E, Boni J, Boulais J, Pinedo-Carpio E, Malina A, Sherill-Rofe D, Luo VM, Goncalves C, Bagci H, Maters A, Cuella-Martin R, Tabach Y, Del Rincon S, Côté JF, Rivera B, Orthwein A. Simo Cheyou E, et al. Among authors: orthwein a. PLoS Genet. 2022 Nov 14;18(11):e1010495. doi: 10.1371/journal.pgen.1010495. eCollection 2022 Nov. PLoS Genet. 2022. PMID: 36374936 Free PMC article.
SHLD2/FAM35A co-operates with REV7 to coordinate DNA double-strand break repair pathway choice.
Findlay S, Heath J, Luo VM, Malina A, Morin T, Coulombe Y, Djerir B, Li Z, Samiei A, Simo-Cheyou E, Karam M, Bagci H, Rahat D, Grapton D, Lavoie EG, Dove C, Khaled H, Kuasne H, Mann KK, Klein KO, Greenwood CM, Tabach Y, Park M, Côté JF, Masson JY, Maréchal A, Orthwein A. Findlay S, et al. Among authors: orthwein a. EMBO J. 2018 Sep 14;37(18):e100158. doi: 10.15252/embj.2018100158. Epub 2018 Aug 28. EMBO J. 2018. PMID: 30154076 Free PMC article.
BRCA2 functions: from DNA repair to replication fork stabilization.
Fradet-Turcotte A, Sitz J, Grapton D, Orthwein A. Fradet-Turcotte A, et al. Among authors: orthwein a. Endocr Relat Cancer. 2016 Oct;23(10):T1-T17. doi: 10.1530/ERC-16-0297. Epub 2016 Aug 16. Endocr Relat Cancer. 2016. PMID: 27530658 Review.
38 results