Nature Search

Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification

BRCA1 and BRCA2 are well known breast cancer predisposition genes, however, many variants have not yet been classified for their pathogenicity. Here, the authors analyse a large combined cohort to provide evidence of variant pathogenicity.

Maria Zanti
Denise G. O’Mahony
Kyriaki Michailidou
ResearchOpen Access25 May 2025
Nature Communications

Volume: 16, P: 1-18
Global, regional and national burden of dietary iron deficiency from 1990 to 2021: a Global Burden of Disease study

Systematic analysis from the Global Burden of Disease study reported that, despite global improvements from 1990 to 2021, dietary iron deficiency-associated disease burden remains high in women, children and residents in low socio-demographic index countries.

Sooji Lee
Yejun Son
Nicholas. J. Kassebaum
Research22 Apr 2025
Nature Medicine

Volume: 31, P: 1809-1829
Functional evaluation and clinical classification of BRCA2 variants

Results from a comprehensive evaluation of the function of BRCA2 variants, particularly variants of uncertain significance, provide a useful resource to improve the clinical management of individuals who carry such genetic variants.

Huaizhi Huang
Chunling Hu
Fergus J. Couch
ResearchOpen Access08 Jan 2025
Nature

Volume: 638, P: 528-537
Mapping molecular subtype specific alterations in breast cancer brain metastases identifies clinically relevant vulnerabilities

The molecular landscape of breast cancer brain metastases (BCBM) is still understudied, especially for different breast cancer subtypes. Here, the authors characterise subtype-specific BCBMs using genomics and transcriptomics and identify homologous recombination deficiency as a key therapeutic vulnerability.

Nicola Cosgrove
Damir Varešlija
Leonie S. Young
ResearchOpen Access26 Jan 2022
Nature Communications

Volume: 13, P: 1-16
A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Breast cancer risk for BRCA1/BRCA2 mutation carriers varies depending on other genetic factors. Here, the authors perform a case-only genome-wide association study and highlight novel loci associated with breast cancer risk for BRCA1/BRCA2 mutation carriers.

Juliette Coignard
Michael Lush
Antonis C. Antoniou
ResearchOpen Access17 Feb 2021
Nature Communications

Volume: 12, P: 1-22
Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Juliette Coignard
Michael Lush
Antonis C. Antoniou
Amendments and CorrectionsOpen Access14 May 2021
Nature Communications

Volume: 12, P: 1-2
Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML

Steven N. Hart
Eric C. Polley
Fergus J. Couch
ResearchOpen Access29 Apr 2020
npj Breast Cancer

Volume: 6, P: 1-4
Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

Daniel R. Barnes
Matti A. Rookus
Antonis C. Antoniou
ResearchOpen Access15 Jul 2020
Genetics in Medicine

Volume: 22, P: 1653-1666
A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients

Holly LaDuca
Eric C. Polley
Jill S. Dolinsky
ResearchOpen Access13 Aug 2019
Genetics in Medicine

Volume: 22, P: 407-415
A prismatic view of the epigenetic-metabolic regulatory axis in breast cancer therapy resistance

Chandrima Das
Apoorva Bhattacharya
Tej K. Pandita
ReviewsOpen Access08 May 2024
Oncogene

Volume: 43, P: 1727-1741

Search

Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification

Global, regional and national burden of dietary iron deficiency from 1990 to 2021: a Global Burden of Disease study

Functional evaluation and clinical classification of BRCA2 variants

Mapping molecular subtype specific alterations in breast cancer brain metastases identifies clinically relevant vulnerabilities

A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients

A prismatic view of the epigenetic-metabolic regulatory axis in breast cancer therapy resistance

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