Pulse Brain · Growing Health Evidence Index
Tier 1 — Meta-analysis / systematic reviewPeer-reviewed

Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk

The LifeLines Cohort Study, Felix R. Day, kConFab/AOCS Investigators, Deborah J. Thompson, Hannes Helgason, Daniel I. Chasman, Hilary K. Finucane, Patrick Sulem, Katherine S. Ruth, Sean Whalen, Abhishek Sarkar, Eva Albrecht, Elisabeth Altmaier, Marzyeh Amini, Caterina Barbieri, Thibaud Boutin, Archie Campbell, Ellen W. Demerath, Ayush Giri, Chunyan He, Jouke‐Jan Hottenga, Robert Karlsson, Ivana Kolčić, Po‐Ru Loh, Kathryn L. Lunetta, Massimo Mangino, Marco Brumat, George McMahon, Sarah E. Medland, Ilja M. Nolte, Raymond Noordam, Teresa Nutile, Lavinia Paternoster, Natalia Perjakova, Eleonora Porcu, Lynda M. Rose, Katharina E. Schraut, Ayellet V. Segrè, Albert V. Smith, Lisette Stolk, Alexander Teumer, Irene L. Andrulis, Stefania Bandinelli, Matthias W. Beckmann, Javier Benı́tez, Sven Bergmann, Murielle Bochud, Eric Boerwinkle, Stig E. Bojesen, Manjeet K. Bolla, Judith S. Brand, Hiltrud Brauch, Hermann Brenner, Linda Broer, Thomas Brüning, Julie E. Buring, Harry Campbell, Eulalia Catamo, Stephen J. Chanock, Georgia Chenevix‐Trench, Tanguy Corre, Fergus J. Couch, Diana L. Cousminer, Angela Cox, Laura Crisponi, Kamila Czene, George Davey Smith, Eco J. C. de Geus, Renée de Mutsert, Immaculata De Vivo, Joe Dennis, Peter Devilee, Isabel dos‐Santos‐Silva, Alison M. Dunning, Johan G. Eriksson, Peter A. Fasching, Lindsay Fernández‐Rhodes, Luigi Ferrucci, Dieter Flesch‐Janys, Lude Franke, Marike Gabrielson, Ilaria Gandin, Graham G. Giles, Harald Grallert, Daníel F. Guðbjartsson, Pascal Guénel, Per Hall, Emily Hallberg, Ute Hamann, Tamara B. Harris, Catharina A. Hartman, Gerardo Heiss, Maartje J. Hooning, John L. Hopper, Frank B. Hu, David J. Hunter, M. Arfan Ikram, Hae Kyung Im, Marjo‐Riitta Järvelin, Peter K. Joshi

Nature Genetics · 2017

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Summary

This large-scale genomic meta-analysis identified hundreds of genetic variants associated with the timing of menarche across multiple international cohorts. The findings support a causal relationship between earlier puberty onset and increased cancer risk, with implications for understanding developmental and endocrine factors in disease aetiology. The study represents a significant advance in understanding the genetic architecture of pubertal timing and its role in cancer susceptibility.

UK applicability

Findings are relevant to UK cancer prevention and risk stratification strategies, particularly for identifying individuals with genetic predisposition to early menarche and associated cancer risk. Results may inform personalised medicine approaches in UK clinical practice, though environmental and lifestyle factors remain important modifiers of genetic risk.

Key measures

Genome-wide association study (GWAS) variants; age at menarche; cancer risk association

Outcomes reported

The study identified hundreds of genetic variants associated with age at menarche through genome-wide association analysis. The research examined the relationship between puberty timing and cancer risk across multiple cohorts.

Theme
Nutrition & health
Subject
Maternal, infant & child nutrition
Study type
Meta-analysis
Study design
Meta-analysis
Source type
Peer-reviewed study
Status
Published
Geography
International
System type
Human clinical
DOI
10.1038/ng.3841
Catalogue ID
BFmor3gaas-pzwn0n

Topic tags

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