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Thus, introduction of mutational screening of somatic mutations into clinical care is already a requirement for taking therapeutic decisions [ 10].
Mutational screening of KRAS identified KRAS mutations in endometrioid carcinoma, but not in endometriosis lesions (Amemiya et al., 2004).
On the other hand, this mutation was not observed in a mutational screening of the p16INKa promoter in 109 melanoma families (Harland et al, 2000), therefore raising the possibility of a rare polymorphism, and indicating the need for functional studies of p16INKa expression in order to determine whether or not promoter single-nucleotide polymorphisms are pathogenic.
Chou et al using mutational screening of primary AML patients demonstrated TET2 mutation as an unfavorable prognostic factor in AML with intermediate cytogenetics [ 73].
50– 53 Identification of the CHEK2 1100delC mutation as a breast cancer-associated allele induced mutational screening of the whole CHEK2 gene sequence.
Autozygosity mapping revealed a shared segment of homozygosity segregating with the disease and subsequent mutational screening of the region identified a homozygous missense mutation (p.Pro222Lys) in all six individuals (Camargos et al., 2008).
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Secondly, this method is generalizable, opening the door for deep sequencing-based mutational screening on a variety of sequencing platforms.
Surprisingly, none of the mutated genes was identified as a candidate cancer gene (CAN genes) through a mutational screen of known protein-encoding genes in 11 estrogen receptor (ER -negative brER -negativecell lines (Sjobreastt al, 2006).
Our collection of 41 publicly-available human breast cancer cell lines had been subjected to mutational screens of seven tumor suppressor genes: BRCA1 (Breast Cancer Susceptibility Gene 1; OMIM 113705), CDH1 (E-cadherin; OMIM 192090), MAP2K4 (MAP Kinase Kinase 4, a.k.a. MKK4; OMIM 601335), PTEN (Phosphatase and Tensin Homolog; OMIM 601728), p16 (CDK4-inhibitor, a.k.a.a
To explore these different possibilities, we carried out a mutational screen of the S100A2 coding sequence (which is contained within exons 2 and 3 of the gene).
The previously reported transposon-mediated mutational screen of a pancreatic ductal preneoplasia mouse model identified a series of genes whose targeted inactivation cooperated with KRASG12D in the development and progression of PDA [ 9].
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