Publications by authors named "Thilo Dork"

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RAD50 missense variants differentially affect the DNA damage response and mitotic progression.
Hanna Redeker, Swantje Kebel, Lea Völkening, Anna Vatselia, Louisa Weinhold

FEBS Lett· December 2025

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Threshold-Based Overlap of Breast Cancer High-Risk Classification Using Family History, Polygenic Risk Scores, and Traditional Risk Models in 180,398 Women.
Peh Joo Ho, Christine Kim Yan Loo, Ryan Jak Yang Lim, Meng Huang Goh, Mustapha Abubakar

Cancers (Basel)· November 2025

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Genome-wide association study of 398,238 women unveils seven loci associated with high-grade serous ovarian cancer.
Daniel R Barnes, Jonathan P Tyrer, Joe Dennis, Goska Leslie, Manjeet K Bolla

NPJ Genom Med· November 2025

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Prioritizing context-specific genetic risk mechanisms in 11 solid cancers.
Xueyao Wu, Artem Kim, Charles E Breeze, Tracy A O'Mara, Dhanya Ramachandran

medRxiv· November 2025

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Large-scale meta-analysis and precision functional assays identify FANCM regions in which PTVs confer different risks for ER-negative and triple-negative breast cancer.
Amandine Billaud, Gisella Figlioli, Clémence Mooser, Irene Casamassima, Violette Azzoni

Breast· October 2025

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Author Correction: Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus.
Kate Lawrenson, Siddhartha Kar, Karen McCue, Karoline Kuchenbaeker, Kyriaki Michailidou

Nat Commun· September 2025

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GWAS meta-analysis identifies five susceptibility loci for endometrial cancer.
Dhanya Ramachandran, Xuemin Wang, Triin Laisk, Ying Zheng, Nathan Ingold

EBioMedicine· August 2025

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Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification.
Maria Zanti, Denise G O'Mahony, Michael T Parsons, Leila Dorling, Joe Dennis

Nat Commun· May 2025

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Alternative splicing of is associated with endothelial progenitor cell dysfunction in preeclampsia.
Ricarda Welz, Dhanya Ramachandran, Bianca Schröder-Heurich, Katja Richter, Robert Geffers

Physiol Genomics· April 2025

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Exome sequencing identifies HELB as a novel susceptibility gene for non-mucinous, non-high-grade-serous epithelial ovarian cancer.
Ed M Dicks, Jonthan P Tyrer, Suzana Ezquina, Michelle Jones, John Baierl

Eur J Hum Genet· March 2025

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Overlap of high-risk individuals across family history, genetic & non-genetic breast cancer risk models: Analysis of 180,398 women from European & Asian ancestries.
Peh Joo Ho, Christine Kim Yan Loo, Meng Huang Goh, Mustapha Abubakar, Thomas U Ahearn

medRxiv· March 2025

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Comparative sequencing study of mismatch repair and homology-directed repair genes in endometrial cancer and breast cancer patients from Kazakhstan.
Ying Zheng, Natalia Vdovichenko, Peter Schürmann, Dhanya Ramachandran, Robert Geffers

Int J Cancer· February 2025

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Germline variants of homology-directed repair or mismatch repair genes in cervical cancer.
Lara Kokemüller, Dhanya Ramachandran, Peter Schürmann, Robert Geffers, Matthias Jentschke

Int J Cancer· February 2025

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Genome-Wide Association Analyses of HPV16 and HPV18 Seropositivity Identify Susceptibility Loci for Cervical Cancer.
Theresa Beckhaus, Linda Kachuri, Taishi Nakase, Peter Schürmann, Rieke Eisenblätter

J Med Virol· February 2025

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Lessons learned from a candidate gene study investigating aromatase inhibitor treatment outcome in breast cancer.
Reiner Hoppe, Stefan Winter, Wing-Yee Lo, Kyriaki Michailidou, Manjeet K Bolla

NPJ Breast Cancer· February 2025

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Methylation, Gene Expression, and Risk Genotypes at the TERT-CLPTM1L Locus in Cervical Cancer.
Dhanya Ramachandran, Qianqian Mao, Dandan Liao, Maud Kamal, Peter Schürmann

Mol Carcinog· January 2025

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Prediction of pathological complete response after neoadjuvant chemotherapy for HER2-negative breast cancer patients with routine immunohistochemical markers.
Lothar Häberle, Ramona Erber, Paul Gass, Alexander Hein, Melitta Niklos

Breast Cancer Res· January 2025

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Germline copy number variants and endometrial cancer risk.
Cassie E Stylianou, George A R Wiggins, Vanessa L Lau, Joe Dennis, Andrew N Shelling

Hum Genet· December 2024

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A deep intronic mutation causes RAD50 deficiency through an unusual mechanism of distant exon activation.
Kristine Bousset, Stefano Donega, Najim Ameziane, Tabea Fleischhammer, Dhanya Ramachandran

J Clin Invest· December 2024

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Polygenic score distribution differences across European ancestry populations: implications for breast cancer risk prediction.
Kristia Yiangou, Nasim Mavaddat, Joe Dennis, Maria Zanti, Qin Wang

Breast Cancer Res· December 2024

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Genetic Association Study of Acetylcholinesterase () and Butyrylcholinesterase () Variants in Sudden Infant Death Syndrome (SIDS).
Dong Qu, Peter Schürmann, Thomas Rothämel, Thilo Dörk, Michael Klintschar

Genes (Basel)· December 2024

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Co-observation of germline pathogenic variants in breast cancer predisposition genes: Results from analysis of the BRIDGES sequencing dataset.
Aimee L Davidson, Kyriaki Michailidou, Michael T Parsons, Cristina Fortuno, Manjeet K Bolla

Am J Hum Genet· September 2024

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Analysis of more than 400,000 women provides case-control evidence for and variant classification.
Maria Zanti, Denise G O'Mahony, Michael T Parsons, Leila Dorling, Joe Dennis

medRxiv· September 2024

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Publisher Correction: Understanding the genetic complexity of puberty timing across the allele frequency spectrum.
Katherine A Kentistou, Lena R Kaisinger, Stasa Stankovic, Marc Vaudel, Edson Mendes de Oliveira

Nat Genet· August 2024

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Validation and functional follow-up of cervical cancer risk variants at the HLA locus.
Rieke Eisenblätter, Finja Seifert, Peter Schürmann, Theresa Beckhaus, Patricia Hanel

HLA· August 2024

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