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Constitutional and somatic rearrangement of chromosome 21 in acute lymphoblastic leukaemia
TLDR
It is shown that individuals born with the rare constitutional Robertsonian translocation between chromosomes 15 and 21, rob(15;21)(q10;q10)c, have approximately 2,700-fold increased risk of developing iAMP21 ALL compared to the general population.
A Quantitative Promoter Methylation Profile of Prostate Cancer
TLDR
The data demonstrate the existence of a progressive increase of promoter methylation levels of several cancer-related genes in prostate carcinogenesis, providing additional markers to augment molecular detection of prostate carcinoma.
Three Epigenetic Biomarkers, GDF15, TMEFF2, and VIM, Accurately Predict Bladder Cancer from DNA-Based Analyses of Urine Samples
TLDR
By using a genome-wide approach, this work has identified a biomarker panel that allows for early and accurate noninvasive detection of BlCa using urine samples.
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array
TLDR
On the basis of combined risks conferred by the new and previously known risk loci, the top 1% of the risk distribution has a 4.7-fold higher risk than the average of the population being profiled.
Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.
TLDR
To identify mutation-specific cancer risks for carriers of BRCA1/2, an Observational study of women who were ascertained between 1937 and 2011 and found to carry disease-associated BRCa1 or BRC a2 mutations is conducted.
Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci
TLDR
A large meta-analysis combining genome-wide and custom high-density genotyping array data identifies 63 new susceptibility loci for prostate cancer, enhancing fine-mapping efforts and providing insights into the underlying biology of PrCa1.
Exome sequencing reveals novel mutation targets in diffuse large B-cell lymphomas derived from Chinese patients.
TLDR
Novel and previous unappreciated targets of somatic mutations in DLBCL identified in this study support the existence of additional/alternative tumorigenic pathways in these tumors.
A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer
TLDR
These findings provide new regions for investigation into the pathogenesis of prostate cancer and demonstrate the usefulness of combining ancestrally diverse populations to discover risk loci for disease.
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations
TLDR
In addition to known founder mutations, mutations of relatively high frequency were identified in specific racial/ethnic or geographic groups that may reflect founder mutations and which could be used in targeted (panel) first pass genotyping for specific populations.
SMARCB1/INI1 tumor suppressor gene is frequently inactivated in epithelioid sarcomas.
TLDR
Results point to SMARCB1/INI1 gene involvement in the genesis and/or progression of epithelioid sarcomas and the number of cases with SMAR CB1/InI1 inactivation is confirmed to 6 of 11 cases.
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