Germline copy number variants and endometrial cancer risk.

doi:10.1007/s00439-024-02707-9

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Article

Germline copy number variants and endometrial cancer risk.

Human genetics - 1 Dec 2024

Stylianou Cassie E, Wiggins George A R, Lau Vanessa L, Dennis Joe, Shelling Andrew N, Wilson Michelle, Sykes Peter, Amant Frederic, Annibali Daniela, De Wispelaere Wout, Easton Douglas F, Fasching Peter A, Glubb Dylan M, Goode Ellen L, Lambrechts Diether, Pharoah Paul D P, Scott Rodney J, Tham Emma, Tomlinson Ian, Bolla Manjeet K, Couch Fergus J, Czene Kamila, Dörk Thilo, Dunning Alison M, Fletcher Olivia, García-Closas Montserrat, Hoppe Reiner, Jernström Helena, Kaaks Rudolf, Michailidou Kyriaki, Obi Nadia, Southey Melissa C, Stone Jennifer, Wang Qin, Spurdle Amanda B, O'Mara Tracy A, Pearson John, Walker Logan C

Abstract excerpt

Known risk loci for endometrial cancer explain approximately one third of familial endometrial cancer. However, the association of germline copy number variants (CNVs) with endometrial cancer risk remains relatively unknown. We conducted a genome-wide analysis of rare CNVs overlapping gene regions in 4115 endometrial cancer cases and 17,818 controls to identify functionally relevant variants associated with...

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Identifiers

PMID: 39495297
DOI: 10.1007/s00439-024-02707-9
PMCID: PMC11576655

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