SNP information rs16942

Research and publications:

  12872265   BRCA1 and BRCA2 mutations in breast/ovarian cancer patients from central Italy.

  16026807   BRCA1 mutations and polymorphisms in a hospital-based consecutive series of breast cancer patients from Apulia, Italy.

  18830263   Polymorphisms in DNA repair and one-carbon metabolism genes and overall survival in diffuse large B-cell lymphoma and follicular lymphoma

  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.

  20233625   Translational research in the Gynecologic Oncology Group: evaluation of ovarian cancer markers, profiles, and novel therapies.

  20807450   Comparing the frequency of common genetic variants and haplotypes between carriers and non-carriers of BRCA1 and BRCA2 deleterious mutations in Australian women diagnosed with breast cancer before 40 years of age.

  21161372   Risk of contralateral breast cancer associated with common variants in BRCA1 and BRCA2: potential modifying effect of BRCA1/BRCA2 mutation carrier status.

  21204206   Evaluation of 64 candidate single nucleotide polymorphisms as risk factors for neural tube defects in a large Irish study population

  21597964   Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers.

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

  21708019   Association of Rad51 polymorphism with DNA repair in BRCA1 mutation carriers and sporadic breast cancer risk.

  21766209   Genetic predictors of taxane-induced neurotoxicity in a SWOG phase III intergroup adjuvant breast cancer treatment trial (S0221).

  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.

  23313170   Analysis of single nucleotide polymorphisms and radiation sensitivity of the lung assessed with an objective radiologic endpoin.

  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.

  26012346   Effect of genetic ancestry on leukocyte global DNA methylation in cancer patients.

  26559640   Automated amplicon design suitable for analysis of DNA variants by melting techniques.

  27478808   Mutation Screening of BRCA Genes in 10 Iranian Males with Breast Cancer.

  27698805   Genetic landscape of a case of extraovarian peritoneal serous papillary carcinoma.

  28439188   Next Generation Sequencing Reveals High Prevalence of BRCA1 and BRCA2 Variants of Unknown Significance in Early-Onset Breast Cancer in African American Women.

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

  30594178   A genome wide SNP genotyping study in the Tunisian population: specific reporting on a subset of common breast cancer risk loci.

  31203256   Identification of BRCA1/2 p.Ser1613Gly, p.Pro871Leu, p.Lys1183Arg, p.Glu1038Gly, p.Ser1140Gly, p.Ala2466Val, p.His2440Arg variants in women under 45 years old with breast nodules suspected of having breast cancer in Burkina Faso.

  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.

  33126731   Genomic Diversity in Sporadic Breast Cancer in a Latin American Population.