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Thilo Dörk

As seen in: Nature, The Journal of Clinical Investigation
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Articles by Thilo Dörk

Genomic profiling identifies actionable DNA-repair defects in a new cervical cancer model

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By Robert Polten, Ivana Kutle, Jan Lennart Stalp, Jens Hachenberg, Philipp John-Neek, Dhanya Ramachandran, Lara Kokemüller, Doris Steinemann, Jonathan L. Lühmann, Yvonne Behrens, Gudrun Göhring, Stephan Bartels, Malte Gronewold, Lavinia Neubert, Jan C Kamp, Dirk Schaudien, Robert Geffers, Peter Hillemanns, Thilo Dörk, Rüdiger Klapdor, Michael Morgan, Axel Schambach, Ann-Kathrin Seyda, Rafaela Schmidtke, Valeriia Obrizan
| Nature Verified
Abstract Genetic profiling of a new HPV-negative cervical cancer model identified pathogenic variants in genes implicated in oncogenic signaling, cell cycle regulation, and DNA damage repair pathways, including homologous recombination, non-homologous end-joining, and mismatch repair. Deficiencies in BRCA2, RAD51 and MLH1 were among these actionable targets.
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A deep intronic mutation causes RAD50 deficiency through an unusual mechanism of distant exon activation

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By Kristine Bousset, Stefano Donega, Tabea Marie Fleischhammer, Dhanya Ramachandran, Miriam Poley-Gil, Detlev Schindler, Thilo Dörk, Najim Ameziane, Franco Pagani
| The Journal of Clinical Investigation
Research LetterCell biologyGenetics Open Access | 10.1172/JCI178528 J Clin Invest. https://doi.org/10.1172/JCI178528. Copyright © 2024, Bousset et al. This work is licensed under the Creative Commons Attribution 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/. View PDF Version history Version 1 (December 12, 2024): In-Press Preview
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Genome-wide association analyses of ovarian cancer patients undergoing primary debulking surgery identify candidate genes for residual disease - npj Genomic Medicine

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By Dhanya Ramachandran, Marjorie J. Riggan, AOCS Group, Penelope M Webb, Beth Karlan, Alvaro N. Monteiro, Thilo Dörk, Cristina Rodríguez-Antona
| Nature Verified
Abstract Survival from ovarian cancer depends on the resection status after primary surgery. We performed genome-wide association analyses for resection status of 7705 ovarian cancer patients, including 4954 with high-grade serous carcinoma (HGSOC), to identify variants associated with residual disease. The most significant association with resection status was observed for rs72845444, upstream of MGMT, in HGSOC (p = 3.9 × 10−8).
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Author Correction: Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk | Nature Genetics

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By Eugene J. Gardner, Heiko Becher, Sabine Behrens, Thilo Dörk, Pascal Guénel, SGBCC Investigators, Jingmei Li, Michael Lush, Kyriaki Michailidou, Mihalis I Panayiotidis, Xueling Sim, Soo Hwang Teo, Jonathan P Tyrer, Qin Wang, Marjanka K. Schmidt, Alison Dunning, Anders Kvist, Peter Devilee, Douglas F. Easton
| Nature Verified
Correction to: Nature Genetics https://doi.org/10.1038/s41588-023-01466-z, published online 17 August 2023. In the version of the article initially published, in the sentence in the Abstract now reading “Associations were also observed for LZTR1, ATRIP and BARD1 with P < 1 × 10−4”, “ATRIP” appeared incorrectly as “ATR”. This has now been corrected in the PDF and HTML versions of the article.
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Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk - Nature Genetics

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By Eugene J. Gardner, Heiko Becher, Sabine Behrens, Thilo Dörk, Pascal Guénel, Jingmei Li, Michael Lush, Kyriaki Michailidou, Mihalis I Panayiotidis, Xueling Sim, Soo Hwang Teo, Jonathan P Tyrer, Qin Wang, Marjanka K. Schmidt, Alison Dunning, Anders Kvist, Peter Devilee, Douglas F. Easton, SGBCC Investigators
| Nature Verified
Abstract Linkage and candidate gene studies have identified several breast cancer susceptibility genes, but the overall contribution of coding variation to breast cancer is unclear. To evaluate the role of rare coding variants more comprehensively, we performed a meta-analysis across three large whole-exome sequencing datasets, containing 26,368 female cases and 217,673 female controls.
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Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2 - British Journal of Cancer

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By Susan J. Ramus, Nicola S. Meagher, Irene L. Andrulis, Jeffrey N. Weitzel, Anna Jakubowska, Andrew Godwin, Jacques Simard, Manuel R. Teixeira, Wendy Chung, Peter J Hulick, Amanda E. Toland, Inge Sokilde Pedersen, HEBON Investigators, Susan Neuhausen, Ana Francisca Vega Verified, Heli Nevanlinna, Katherine L. Nathanson, Ana Osorio, Maria Garcia, Maria García Verified, María García Gil, Beth Karlan, GEMO Study Collaborators, Anna de Fazio, AOCS Group, Goska Leslie, Thilo Dörk, Paolo Peterlongo, Douglas F. Easton, Christian F. Singer, Weiva Sieh, James Brenton, Irene Konstantopoulou, Jana Soukupová, Michal Vocka, Amanda B. Spurdle, Kyriaki Michailidou, Denise G. O’Mahony, Adalgeir Arason, CZECANCA Consortium
| Nature Verified
Abstract Background The distribution of ovarian tumour characteristics differs between germline BRCA1 and BRCA2 pathogenic variant carriers and non-carriers. In this study, we assessed the utility of ovarian tumour characteristics as predictors of BRCA1 and BRCA2 variant pathogenicity, for application using the American College of Medical Genetics and the Association for Molecular Pathology (ACMG/AMP) variant classification system.
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FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women - European Journal of Human Genetics

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By Gisella Figlioli, Heiko Becher, Sabine Behrens, Marinus J. Blok, Bernardo Bonanni, Stephen J. Chanock, Peter Devilee, Thilo Dörk, Felix Grassmann, Antoinette Hollestelle, K ConFab Investigators, Anna Jakubowska, Jolanta Lissowska, William Newman, Mihalis I Panayiotidis, Muhammad Rashid, Xiaohong Yang, Joe Dennis, Douglas F. Easton, Kyriaki Michailidou, Marjanka K. Schmidt, Irene L. Andrulis, Heli Nevanlinna, Roger Milne, Paolo Radice, NBCS Collaborators, Emmanouil Saloustros
| Nature Verified
Abstract Evidence from literature, including the BRIDGES study, indicates that germline protein truncating variants (PTVs) in FANCM confer moderately increased risk of ER-negative and triple-negative breast cancer (TNBC), especially for women with a family history of the disease. Association between FANCM missense variants (MVs) and breast cancer risk has been postulated.
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Genome-wide association study of germline variants and breast cancer-specific mortality

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By Qi Guo, Sander Canisius, Maria Escala-Garcia, Thilo Dörk
| Nature Verified
Abstract Background We examined the associations between germline variants and breast cancer mortality using a large meta-analysis of women of European ancestry. Methods Meta-analyses included summary estimates based on Cox models of twelve datasets using ~10.4 million variants for 96,661 women with breast cancer and 7697 events (breast cancer-specific deaths). Oestrogen receptor (ER)-specific analyses were based on 64,171 ER-positive (4116) and 16,172 ER-negative (2125) patients.
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