Associated Papers
Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.
Li J et al.
Genes & Diseases, 2026
Experimental Mis-Splicing Assessment and ACMG/AMP-Guided Classification of 47 ATM Splice-Site Variants.
Llinares-Burguet I et al.
International Journal of Molecular Sciences, 2026
Breast tumors from ATM pathogenic variant carriers display a specific genome-wide DNA methylation profile.
Viart NM et al.
Breast Cancer Research : Bcr, 2025
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 2024
Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing.
Girard E et al.
International Journal of Cancer, 2019
30303537 (PubMed )
Supplement: IJC-144-1962-s006.pdf
Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers.
Renault AL et al.
Breast Cancer Research : Bcr, 2018
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