SNP information rs28897728

Research and publications:

  4055113   Plasma exchange-induced biological stress of the Hagemann-mediated systems: results of contact activation and plasma substitution.

  7924331   Kinetics of corneal transplant rejection in the rat penetrating keratoplasty model.

  10551859   Expression of BRC repeats in breast cancer cells disrupts the BRCA2-Rad51 complex and leads to radiation hypersensitivity and loss of G(2)/M checkpoint control.

  11802209   Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population.

  11873550   Diagnostic criteria for testing for BRCA1 and BRCA2: the experience of the Department of Defense Familial Breast/Ovarian Cancer Research Project.

  12097257   TBX2 is preferentially amplified in BRCA1- and BRCA2-related breast tumors.

  12442171   Insights into DNA recombination from the structure of a RAD51-BRCA2 complex.

  12491499   Pathologic characteristics of breast parenchyma in patients with hereditary breast carcinoma, including BRCA1 and BRCA2 mutation carriers.

  15983021   Racial differences in the incidence of BRCA1 and BRCA2 mutations in a cohort of early onset breast cancer patients: African American compared to white women.

  16030099   Prevalence of BRCA mutations and founder effect in high-risk Hispanic families.

  16284991   BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases.

  17924331   A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.

  18268356   Risk-reducing salpingo-oophorectomy for the prevention of BRCA1- and BRCA2-associated breast and gynecologic cancer: a multicenter, prospective study.

  18284688   Evaluation of unclassified variants in the breast cancer susceptibility genes BRCA1 and BRCA2 using five methods: results from a population-based study of young breast cancer patients.

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

  18418466   Classification of Missense Mutations of Disease Genes.

  18951449   Assessment of functional effects of unclassified genetic variants.

  19471317   Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study.

  19747923   Cancer-associated mutations in BRC domains of BRCA2 affect homologous recombination induced by Rad51.

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

  20694749   Comprehensive BRCA1 and BRCA2 mutation analyses and review of French Canadian families with at least three cases of breast cancer.

  20927582   Mutations in BRCA2 and PALB2 in male breast cancer cases from the United States.

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

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

  22811390   BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma.

  23231788   Variants of uncertain significance in BRCA1 and BRCA2 assessment of in silico analysis and a proposal for communication in genetic counselling.

  23555315   Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

  24033266   A systematic approach to assessing the clinical significance of genetic variants.

  24323938   Functional assays for analysis of variants of uncertain significance in BRCA2.

  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.

  29504908   Exome analysis of carotid body tumor.

  24055113   Actionable, pathogenic incidental findings in the exomes of 1000 participants.