Xu et al (2001) exclude a major contribution of HPC2/ELAC2 as a high-prevalence, high-penetrance major gene for PrCa after performing linkage analysis in multiple case PrCa families and mutation screening (using DHPLC) of all coding exons of the gene in 93 probands.
In conclusion, our HRM assay is a simple, robust and inexpensive method that allows multiple mutation hotspots to be rapidly screened and is thus highly suited to mutation detection in DNA derived from FFPE tissues.
The youngest affected woman, not known to carry a mutation in BRCA1 or BRCA2, from 747 multiple-case breast cancer families participating in kConFab were selected for PALB2 mutation screening.
Since then, further mutation screening of BRCA1 and BRCA2 has been undertaken using direct sequencing and multiple ligation-dependent probe amplification, which is a dosage test to detect large single or multiple exon deletions or duplications.
Until recently, NF1 patients were clinically diagnosed [ 19] with few undergoing mutation screening as the NF1 gene spans 300 kb and is composed of 58 exons, with multiple different and complex mutations identified in the limited numbers of cases studied.
Mutation screening was performed for known FHM-related genes.
Mutation screening of COL5A2 was normal.
GrP performed mutation screening.
Mutation screening was performed.
CM did KRAS mutation screening.
