Later age of natural menopause among women with the pathogenic <i>CHEK2</i> c.1100delC variant: a validation study

<i>CHEK2</i> c.1100delC is associated with 1.5-2.2 years later ANM compared with non-carriers, underlining the independence of <i>CHEK2</i> c.1100delC irrespective of heritability of ANM within families.

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Publication Details

Journal
Journal of Medical Genetics
Published
2026-02-13
DOI
https://doi.org/10.1136/jmg-2025-111339
Primary Topic
BRCA gene mutations in cancer
Type
article
Field-Weighted Citation Impact
0.00
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article

Later age of natural menopause among women with the pathogenic CHEK2 c.1100delC variant: a validation study

Maartje A. C. Schreurs, M. Ausems, Marijke R. Wevers, Yvonne Louwers et al.
Journal of Medical Genetics
BRCA gene mutations in cancer
article

Later age of natural menopause among women with the pathogenic CHEK2 c.1100delC variant: a validation study

Maartje A. C. Schreurs, M. Ausems, Marijke R. Wevers, Yvonne Louwers, Antoinette Hollestelle, Muriel A Adank, Marjanka K Schmidt, Emma M Vieveen, Jenny A Visser, Refika Yigit, Christi J. van Asperen, Irma van de Beek, Charlotte J Dommering, Maartje J Hooning, Encarna B. Gomez Garcia, Margriet J Collee
article en

Abstract

<i>CHEK2</i> c.1100delC is associated with 1.5-2.2 years later ANM compared with non-carriers, underlining the independence of <i>CHEK2</i> c.1100delC irrespective of heritability of ANM within families.

Journal of Medical Genetics
Radboud University Nijmegen (NL), University of Groningen (NL), Utrecht University (NL), Leiden University Medical Center (NL), Erasmus MC (NL), Radboud University Medical Center (NL), The Netherlands Cancer Institute (NL), University Medical Center Utrecht (NL), Maastricht University (NL), Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital (NL), Erasmus MC Cancer Institute (NL), Amsterdam University Medical Centers (NL), University of Amsterdam (NL), Erasmus University Rotterdam (NL)
Good health and well-being
Openalex Percentile: Top 53%
BRCA gene mutations in cancer
DOIOpen Access PDFOpenAlex
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Later age of natural menopause among women with the pathogenic <i>CHEK2</i> c.1100delC variant: a validation study — Maartje A. C. Schreurs, M. Ausems, et al. · Journal of Medical Genetics (2026) | TGRS Research Map | TGRS