Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587781299
rs587781299
TA 0.700 CausalMutation CLINVAR Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. 27153395

2016

dbSNP: rs587781299
rs587781299
TA 0.700 CausalMutation CLINVAR Improving performance of multigene panels for genomic analysis of cancer predisposition. 26845104

2016

dbSNP: rs587781299
rs587781299
TA 0.700 CausalMutation CLINVAR Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. 24763289

2014

dbSNP: rs587781299
rs587781299
TA 0.700 CausalMutation CLINVAR Exome resequencing identifies potential tumor-suppressor genes that predispose to colorectal cancer. 23585368

2013

dbSNP: rs587781299
rs587781299
TA 0.700 CausalMutation CLINVAR Rare variants in the ATM gene and risk of breast cancer. 21787400

2011

dbSNP: rs587781299
rs587781299
TA 0.700 CausalMutation CLINVAR Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer. 19781682

2009

dbSNP: rs587781299
rs587781299
TA 0.700 CausalMutation CLINVAR Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. 10817650

2000

dbSNP: rs587781299
rs587781299
TA 0.700 CausalMutation CLINVAR ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer. 9463314

1998