© 2010 Wiley-Liss, Inc. Lynch syndrome (LS, often referred to as hereditary nonpolyposis colorectal cancer syndrome; HNPCC; MIM♯ 120435) is highly associated with autosomal dominant inheritance of mutations in genes fundamental to the DNA mismatch repair (MMR) mechanism.
Moreover, null mutations in genes with fundamental developmental roles are often embryonic lethal, while corresponding ENU mutants often survive to a later stage than that of the earliest essential function of the gene, thereby enabling the investigation of relevant phenotypes in adults (Acevedo-Arozena et al., 2008).
These drugs, Lydon says, helped show that treatments can "attack the fundamental mutations in a cancer".
Mutations in Per2 shorten the fundamental frequency of circadian oscillations and cause the eventual loss of behavioural rhythms (Zheng et al., 1999; Bae et al., 2001; Xu et al., 2007).
If we pool our data with those of these three studies (Moroni et al, 2005; Lievre et al, 2006; Di Fiore et al, 2007), the difference between K-Ras mutated and K-Ras wild-type sequence patients as regards to cetuximab treatment is highly significant, indicating that the assessment of K-Ras mutations in mCRC plays a fundamental role in predicting cetuximab efficacy.
Motivation: Mutations play fundamental roles in evolution by introducing diversity into genomes.
Mutations play fundamental roles in evolution by introducing diversity into genomes, most often through single nucleotide polymorphisms (SNPs).
The detection of V600E BRAF mutation in melanoma is fundamental since here BRAF inhibitors represent an effective treatment.
A better understanding of the frequencies of BRCA1 and BRCA2 mutations in such moderate risk patients is fundamental to our appreciation of the importance of these genes as a cause of disease in the general population.
Low-energy ion irradiation of DNA is of great interest in fundamental studies on mechanisms involved in low-energy ion beam induced mutation, plasma sterilization and ionizing radiation risk of lives.
