Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs55770810
rs55770810
0.810 GeneticVariation UNIPROT Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement. 24366376

2014

dbSNP: rs55770810
rs55770810
0.810 GeneticVariation BEFREE Measures of genetic risk (report of family history, segregation) were assessed for 68 BRCA1 c.5096G>A p.Arg1699Gln (R1699Q) families recruited through family cancer clinics, comparing results with 34 families carrying the previously classified pathogenic BRCA1 c.5095C>T p.Arg1699Trp (R1699W) mutation at the same residue, and to 243 breast cancer families with no BRCA1 pathogenic mutation (BRCA-X). 22889855

2012

dbSNP: rs200928781
rs200928781
0.810 GeneticVariation UNIPROT A recurrent CHEK2 p.H371Y mutation is associated with breast cancer risk in Chinese women. 21618645

2011

dbSNP: rs200928781
rs200928781
G 0.810 GeneticVariation CLINVAR CHEK2 contribution to hereditary breast cancer in non-BRCA families. 22114986

2011

dbSNP: rs200928781
rs200928781
0.810 GeneticVariation UNIPROT The emerging landscape of breast cancer susceptibility. 18163131

2008

dbSNP: rs28897696
rs28897696
0.810 GeneticVariation UNIPROT The emerging landscape of breast cancer susceptibility. 18163131

2008

dbSNP: rs55770810
rs55770810
0.810 GeneticVariation UNIPROT The emerging landscape of breast cancer susceptibility. 18163131

2008

dbSNP: rs200928781
rs200928781
0.810 GeneticVariation UNIPROT Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors. 17508274

2007

dbSNP: rs28897696
rs28897696
0.810 GeneticVariation UNIPROT Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors. 17508274

2007

dbSNP: rs55770810
rs55770810
0.810 GeneticVariation UNIPROT Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors. 17508274

2007

dbSNP: rs200928781
rs200928781
0.810 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628

2004

dbSNP: rs28897696
rs28897696
0.810 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628

2004

dbSNP: rs55770810
rs55770810
0.810 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628

2004

dbSNP: rs200928781
rs200928781
0.810 GeneticVariation UNIPROT A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer. 12094328

2002

dbSNP: rs28897696
rs28897696
0.810 GeneticVariation BEFREE Two mutated forms of BRCA1, a missense (A1708E) and a nonsense (Y1853X) that have been identified in familial breast cancers, associated with Nmi and c-Myc but failed to suppress c-Myc-induced hTERT promoter activity. 11916966

2002

dbSNP: rs28897696
rs28897696
T 0.810 CausalMutation CLINVAR

dbSNP: rs28897759
rs28897759
T 0.810 GeneticVariation CLINVAR

dbSNP: rs28897759
rs28897759
0.810 GeneticVariation UNIPROT

dbSNP: rs55770810
rs55770810
A 0.810 CausalMutation CLINVAR

dbSNP: rs121913279
rs121913279
0.800 GeneticVariation BEFREE We aimed to detect the tumor-derived free DNA in metastasis-free LNs in patients with breast cancers harboring the PIK3CA-H1047R mutation. 30805870

2019

dbSNP: rs121913279
rs121913279
0.800 GeneticVariation BEFREE In this study, we directly compared PIK3CA hotspot mutations (E545K, H1047R) in EpCAM-positive CTCs and paired plasma-ctDNA in breast cancer (BrCa). 31254443

2019

dbSNP: rs121913279
rs121913279
0.800 GeneticVariation BEFREE The hotspot mutation H1047R in the oncogenic PIK3CA gene is frequently detected in breast cancer and enhances the enzymatic activity of PI3K to activate AKT/mTOR signaling cascade. 30671946

2019

dbSNP: rs121913279
rs121913279
0.800 GeneticVariation BEFREE The aim of this study was to analyze the efficacy of PI3K/mTOR blockade in breast cancer brain metastases models.<b>Experimental Design:</b> The efficacy of GDC-0084 was evaluated in <i>PIK3CA</i>-mutant and <i>PIK3CA</i> wild-type breast cancer cell lines and the isogenic pairs of <i>PIK3CA</i> wild-type and mutant (H1047R/+) MCF10A cells <i>in vitro</i>. 30796030

2019

dbSNP: rs2046210
rs2046210
0.800 GeneticVariation BEFREE In summary, our findings suggested that the rs2046210 polymorphism may serve as a potential genetic biomarker of BC in both Asians and Caucasians. 30693664

2019

dbSNP: rs2981582
rs2981582
0.800 GeneticVariation BEFREE P21 Ser31Arg and FGFR2 rs2981582 Polymorphisms as Risk Factors for Early Onset of Breast Cancer in Yogyakarta, Indonesia. 31759353

2019