rs1799950

neutralMag 2.5

This is a protein-altering variant in the BRCA1 gene.

Key Literature Trait Associations

Breast Cancer Risk

The A allele at this BRCA1 missense variant (D693N) has been associated with modestly increased breast cancer risk. This is classified as a variant of uncertain to low clinical significance.

Xu GP et al. “The association between BRCA1 gene polymorphism and cancer risk: a meta-analysis.” Oncotarget (2018)

Allele A

OR —

p —

N 78,751

Meta-analysis

multi-ancestry (Asian and Caucasian)

Easton DF et al. “A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.” American Journal of Human Genetics 81(5):873-883 (2007)

Allele A

OR 1.20

p 2.0e-6

Preliminary work

Romanowicz H et al. “New single nucleotide polymorphisms (SNPs) in homologous recombination repair genes detected by microarray analysis in Polish breast cancer patients.” Clinical and Experimental Medicine (2017)

Allele A

OR —

p —

N 594

Preliminary work

Polish (European)

Khan Y et al. “Significant association of BRCA1 (rs1799950), BRCA2 (rs144848) and TP53 (rs1042522) polymorphism with breast cancer risk in Pashtun population of Khyber Pakhtunkhwa, Pakistan.” Molecular Biology Reports (2023)

Allele A

OR —

p —

N 220

Candidate gene study

Pashtun (Pakistani)

Ghafouri-Fard S et al. “Meta-Analysis of BRCA1 Polymorphisms and Breast Cancer Susceptibility.” Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti (2018)

Allele A

OR —

p —

Meta-analysis

multi-ancestry

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ClinVar annotation

Benign★★★★

46 submitters26 publications

not provided; Hereditary breast ovarian cancer syndrome; Breast-ovarian cancer, familial, susceptibility to, 1; not specified; Hereditary cancer-predisposing syndrome; Breast ductal adenocarcinoma; Familial cancer of breast; Malignant tumor of breast; Pancreatic cancer, susceptibility to, 4;Familial cancer of breast;Breast-ovarian cancer, familial, susceptibility to, 1;Fanconi anemia, complementation group S

View on ClinVar →

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Research that mentions this SNP (2)

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Single nucleotide polymorphisms of ataxia telangiectasia mutated and the risk of papillary thyroid carcinoma

MethodsChang Myeon Song et al.(2015)· Environmental and Molecular Mutagenesis

This is a methods chapter describing high-resolution melting (HRM) for SNP detection in papillary thyroid carcinoma research. The paper reviews SNPs associated with PTC development and progression, including variants in FAS (rs2234978), DICER1 (rs3742330), TAS2R3/4 (rs2270009, rs2234001), ATM (rs373759, rs664143, rs4585), TITF1/TITF2 (rs944289, rs965513, rs1443434), MDM2 (rs2279744, rs3730485), BRCA1 (rs1799950, rs799917, rs16941, rs16942, rs1060915, rs1799966), VEGF-A, MMP9 (rs1562), and others associated with tumor characteristics and PTC risk.

Traits studied:Extrathyroidal extensionLymph node metastasisMultifocalityPapillary thyroid carcinomaTNM stageThyroid cancerTumor size

PubMed DOI Metascience Observatory

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Estimation of genotype relative risks from pedigree data by retrospective likelihoods

MethodsN=1,648Daniel J. Schaid et al.(2010)· Genetic Epidemiology

This methods paper presents a novel retrospective likelihood approach for estimating genotype relative risks from ascertained pedigrees, which adjusts for ascertainment bias by conditioning on the phenotypes of all pedigree members. The authors apply this method to 28 previously reported prostate cancer SNPs in Mayo Clinic pedigree data (469 affected men) and case-control samples (661 cases, 518 controls), demonstrating that relative risk estimates from pedigrees are consistent with odds ratios from case-control studies.

rs1799950

Key Literature Trait Associations

Breast Cancer Risk

ClinVar annotation

Research that mentions this SNP (2)

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