We have found that breast tumours from BRCA-mutation carriers show specific array Comparative Genomic Hybridisation (aCGH) profiles and that these tumour profiles are also present in some sporadic breast cancer patients (Joosse et al, 2009, 2012).
All of the most important and frequent BRCA1 and BRCA2 mutations which have been discovered so far are represented in Tables 2, 3, 4, 5, 6, 7, and 8. Some of the BRCA1/2 mutations show population specific pattern and some of them have been found in various studies from different populations.
The non-CIMP subgroups, corresponding to the majority of colorectal tumors, do not show specific mutations, but are enriched for SCNAs and originate from distinct anatomical sites compared with the CIMP groups.
Moreover, we observed that some exons and some mutations show cell-specific differences in the frequency of exon inclusion.
Experimental data on LHON hybrid cell models harboring the three primary LHON mutations showed that specific mtDNA haplogroup modulated OXPHOS assembly kinetics [19] or increased the sensitivity to environmental toxicity [20].
27, 28 Specific BRCA1 and BRCA2 mutations show a high frequency in specific countries or ethnic groups, particularly in genetically isolated populations.
Also, mutations of NCKAP1 showed specific morphogenetic defects: these mouse failed to close the neural tube, also failed to form a single tube (cardia bifida) and showed delayed migration of endoderm and mesoderm (Rakeman et al., 2006).
By single-photon emission CT (SPECT), patient NAPO6, an Italian with ATP13A2 mutation c.G2629A, showed specific-to-nondisplaceable V′′3 binding ratios that were 75% lower in the caudate and 85% lower in the putamen than those of healthy individuals [ 24].
In addition, a nonsense mutation in sel-12 wy756, sel-12 wy756used strong vulval phenotypes, W184stopmissense mutation in sel-12(wy760, G373D) showed specausedvm2 mustrongrm phenotype, further arguing for the difference in the dosage requirement for these devulvalental events.
Next, we assessed whether any specific somatic mutations showed evidence of positive selection.
