Bert Bakker

TL;DR: This study identifies SMCHD1 as an epigenetic modifier of the D4Z4 metastable epiallele and as a causal genetic determinant of FSHD2 and possibly other human diseases subject to epigenetic regulation.

TL;DR: Despite wide variation in allele frequency, these genetic variants show notable homogeneity of effect across populations of European ancestry living at different latitudes and show independent association to disease risk.

TL;DR: The protein truncation test (PIT) is used to screen for mutations in exon 11, which encodes 61 % of BRCA1, and detects aberrantly spliced products affecting exons 5 and 6 in one of two BRCa1–linked families examined.

TL;DR: Seven new regions with at least one SNP with P < 10−5 and further local imputed or genotyped support were selected for replication using two other genome-wide studies and showed no association with nevus or pigmentation phenotypes in a large British case-control series.

TL;DR: The results emphasize the practical importance of the Amsterdam criteria, which provide a valid clinical subdivision between families, on the basis of their chance of carrying an hMSH2 or an hMLH1 mutation, and which bear important consequences for genetic testing and counseling and for the management of colorectal cancer families.