Genome-wide association studies (GWAS) and large-scale replication studies have identified
common variants in 79 loci associated with breast cancer, explaining ∼14% of the familial …

Rare copy-number variation (CNV) is an important source of risk for autism spectrum
disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an excess of genic …

Context.—Lysophosphatidic acid (LPA) has been shown to stimulate proliferation of ovarian
cancer cells and is present in the ascitic fluid of patients with ovarian cancer.Objectives.—To …

Ribonuclease L (RNase L) is an important effector of the innate antiviral response. Mutations
or variants that impair function of RNase L, particularly R462Q, have been proposed as …

The functional roles of SNPs within the 8q24 gene desert in the cancer phenotype are not
yet well understood. Here, we report that CCAT2, a novel long noncoding RNA transcript (…

ContextApproximately 60% of families that meet the Amsterdam-I criteria (AC-I) for
hereditary nonpolyposis colorectal cancer (HNPCC) have a hereditary abnormality in a DNA …

Background: Although high-risk mutations in identified major susceptibility genes (DNA
mismatch repair genes and MUTYH) account for some familial aggregation of colorectal cancer, …

Background & Aims: The revised Bethesda guidelines for Lynch syndrome recommend
microsatellite instability (MSI) testing all colorectal cancers in patients diagnosed before age 50 …

… Baron, Graham Casey, Steven Gallinger, Loïc Le Marchand, Robert W. Haile, John L.
Hopper,Mark A. … Macrae, The Royal Melbourne Hospital, Parkville; Graham G. Giles …

Genome-wide association studies (GWAS) have identified 76 variants associated with
prostate cancer risk predominantly in populations of European ancestry. To identify additional …