SNP information rs4986852

Research and publications:

  1245799   The gastrointestinal diagnostic unit.

  7894491   Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer.

  7894493   Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families.

  8776600   Comparison of BRCA1 polymorphisms, rare sequence variants and/or missense mutations in unaffected and breast/ovarian cancer populations.

  10545082   Denaturing gradient gel electrophoresis-based analysis of loss of heterozygosity distinguishes nonobvious, deleterious BRCA1 variants from nonpathogenic polymorphisms.

  12457999   Establishing a control population to screen for the occurrence of nineteen unclassified variants in the BRCA1 gene by denaturing high-performance liquid chromatography.

  15235020   Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation.

  15726418   BRCA1 variants in a family study of African-American and Latina women.

  16014699   Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral.

  16111488   Phosphorylation states of cell cycle and DNA repair proteins can be altered by the nsSNPs.

  18414213   ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

  19644020   Genotyping of frequent BRCA1/2 SNPs with unlabeled probes: a supplement to HRMCA mutation scanning, allowing the strong reduction of sequencing burden.

  20104584   Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.

  21520273   Assessment of rare BRCA1 and BRCA2 variants of unknown significance using hierarchical modeling.

  21702907   A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.

  21890493   Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers.

  21990134   A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

  22703879   Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.

  22753008   A guide for functional analysis of BRCA1 variants of uncertain significance.

  22792358   Association between genetic variants in DNA and histone methylation and telomere length.

  22995991   An informatics approach to analyzing the incidentalome.

  22996961   Clonal evolution of high-grade serous ovarian carcinoma from primary to recurrent disease.

  23192404   Evaluation of BRCA1 mutations in an unselected patient population with triple-negative breast cancer.

  23249957   Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes.

  23469205   Comprehensive analysis of BRCA1, BRCA2 and TP53 germline mutation and tumor characterization: a portrait of early-onset breast cancer in Brazil.

  23961350   BRCA1 And BRCA2 analysis of Argentinean breast/ovarian cancer patients selected for age and family history highlights a role for novel mutations of putative south-American origin.

  24728327   Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

  25741868   Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

  28591191   Reanalysis of BRCA1/2 negative high risk ovarian cancer patients reveals novel germline risk loci and insights into missing heritability.

  29458332   Identification of genetic variants for clinical management of familial colorectal tumors.

  30820179   Novel Associations between BRCA1 Variants C.181 T>G (Rs28897672) and Ovarian Crisk in Saudi Females.

  32039725   Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population.

  34711928   Association study of candidate DNA-repair gene variants and acute graft versus host disease in pediatric patients receiving allogeneic hematopoietic stem-cell transplantation.