SNP information rs144848

Research and publications:

  11062481   A common variant in BRCA2 is associated with both breast cancer risk and prenatal viability.

  11927503   The BRCA2 372 HH genotype is associated with risk of breast cancer in Australian women under age 60 years.

  12466288   Haplotype and linkage disequilibrium architecture for human cancer-associated genes.

  14555511   Polymorphisms in BRCA1 and BRCA2 and risk of epithelial ovarian cancer.

  15113441   Kin-cohort estimates for familial breast cancer risk in relation to variants in DNA base excision repair, BRCA1 interacting and growth factor genes.

  15235023   Heterozygote excess is repeatedly observed in females at the BRCA2 locus N372H.

  16857995   Risk of non-Hodgkin lymphoma (NHL) in relation to germline variation in DNA repair and related genes.

  17428325   Common variants in the ATM, BRCA1, BRCA2, CHEK2 and TP53 cancer susceptibility genes are unlikely to increase breast cancer risk.

  17767707   Association between the BRCA2 N372H variant and male breast cancer risk: a population-based case-control study in Tuscany, Central Italy.

  18086758   Association between single-nucleotide polymorphisms in hormone metabolism and DNA repair genes and epithelial ovarian cancer: results from two Australian studies and an additional validation set.

  18431743   Consortium analysis of 7 candidate SNPs for ovarian cancer.

  18547414   Genotyping panel for assessing response to cancer chemotherapy

  18579371   Genetic polymorphisms in double-strand break DNA repair genes associated with risk of oral premalignant lesions.

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

  19138047   Thyroid nodules, polymorphic variants in DNA repair and RET-related genes, and interaction with ionizing radiation exposure from nuclear tests in Kazakhstan.

  19276285   Associations between single nucleotide polymorphisms in double-stranded DNA repair pathway genes and familial breast cancer.

  19500380   LD2SNPing: linkage disequilibrium plotter and RFLP enzyme mining for tag SNPs.

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

  19902366   Genetic variation in DNA repair genes and prostate cancer risk: results from a population-based study.

  20003265   Extent of differential allelic expression of candidate breast cancer genes is similar in blood and breast.

  20135345   BRCA2 N372H polymorphism and breast cancer susceptibility: a meta-analysis involving 44,903 subjects.

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

  21296624   An analysis of single nucleotide polymorphisms of 125 DNA repair genes in the Texas genome-wide association study of lung cancer with a replication for the XRCC4 SNPs.

  21514219   Genetic variants associated with breast-cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence

  22253860   Multiple pathway-based genetic variations associated with tobacco related multiple primary neoplasms.

  22430443   Occupational solvent exposure, genetic variation in DNA repair genes, and risk of non-Hodgkin's lymphoma.

  22513257   Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers.

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

  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.

  24062231   DNA double-strand break repair genotype and phenotype and breast cancer risk within sisters from the New York site of the Breast Cancer Family Registry (BCFR).

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

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

  25178586   Polymorphisms in DNA repair genes, hair dye use, and the risk of non-Hodgkin lymphoma.

  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.

  26979245   Polymorphism rs144848 in BRCA2 may reduce lung cancer risk in women: a case-control study in southeast China.

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

  28415599   BRCA1 missense polymorphisms are associated with poor prognosis of pancreatic cancer patients in a Chinese population.

  28418863   GALNT14 genotype as a response predictor for concurrent chemoradiotherapy in advanced esophageal squamous cell carcinoma.

  29209986   Data on Single Nucleotide Polymorphism of DNA Repair Genes and Breast Cancer Risk from Poland.

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

  30677706   Modulation of homologous recombination repair gene polymorphisms on genetic damage in chromate exposed workers.

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

  33499154   Identification of Variants (rs11571707, rs144848, and rs11571769) in the BRCA2 Gene Associated with Hereditary Breast Cancer in Indigenous Populations of the Brazilian Amazon.

  34008499   Endometrial Cancer, BRCA1, and BRCA2 in the UK Biobank Cohort.