Although∼ 80% of adult patients with cytogenetically normal acute myeloid leukemia (CN-
AML) achieve a complete remission (CR), more than half of them relapse. Better …

Background: Inactivation of DNA mismatch repair (MMR) and the resulting microsatellite
instability (MSI) are frequently observed in endometrial, stomach, and colorectal cancers, as …

Context Previous genome-wide association studies have shown that single-nucleotide
polymorphism (SNP) rs2439302 in chromosome 8p12 is significantly associated with …

Background: Familial adenomatous polyposis (FAP) is a condition typically caused by
pathogenic germline mutations in the APC gene. In addition to colon polyps, individuals with …

Brief Communication 771 penetrant germline mutations that segregate with disease [1, 2].
The importance of these findings has been highlighted by the addition of “myeloid neoplasm …

Purpose: Uniparental disomy (UPD) is a way cancer cells duplicate a mutated gene, causing
loss of heterozygosity (LOH). Patients with cytogenetically normal acute myeloid leukemia …

Purpose To identify and characterize the functional variants, regulatory gene networks, and
potential binding targets of SMAD3 in the 15q22 thyroid cancer risk locus. Methods We …

Microsatellite instability (MSI) is the somatic acquisition or loss of bases within repetitive
DNA sequences due to defects in DNA mismatch repair, and is associated with an increased …

Abstract Papillary Thyroid Carcinoma (PTC) displays one of the highest familiality scores of
all cancers as measured by case-control studies, yet only a handful of genes have been …

Background Papillary thyroid carcinoma (PTC) demonstrates high heritability and a low
somatic mutation burden relative to other cancers. Therefore, the genetic risk predisposing …