Recently, Dehari (2001) and Uchida et al (1998) have reported that APC gene mutation is uncommon in SA.
The MPLW515 mutation is uncommon in PV but present in 5 10% of patients with ET and PMF.
Genotyping analysis of >500 individuals did not identify any other carrier of the W210R mutation, indicating that the mutation is uncommon in the general population.
7 m.14484T>C is the most common among French Canadians and can be tracked to a founder effect, 8 but this mutation is uncommon in the UK and in Scandinavia.
p53 protein accumulation is highly frequent in thymic carcinomas but not in thymomas, and gene mutation is uncommon in thymic carcinomas.
However, such EGFR mutation is uncommon in patients with HNSCC (Hama et al, 2009) and truncation mutation EGFR variant III (EGFRvIII), which is relatively prevalent in HNSCC does not correlate with resistance to EGFR-TKIs (Sok et al, 2006).
The genotype of this patient (R334W, class IV mutation, and Q890X, class I mutation) is uncommon and, in this case, associated with a severe expression of the disease with pancreatic sufficiency, numerous episodes of acute pancreatitis, and severe pulmonary disease with frequent PE.
Whilst the p53 gene is rarely mutated in ALK+ ALCL [43] - indeed p53 mutations are uncommon in a range of hematopoietic cancers [44] – we have previously shown that p53 function is disrupted in ALK+ ALCL cell lines through NPM-ALK-mediated p53 degradation in a manner that depends on the activities of MDM2 and JNK [33].
Whilst somatic BRCA1 mutations are uncommon in sporadic breast cancer, there are non-mutational mechanisms causing BRCA1 dysfunction.
For tumor types in which p16 mutations are uncommon, the PharMingen polyclonal antibody may be a suitable alternative.
