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In these rapidly dividing cells, the genes encoding the variable domains of the heavy and light chains undergo a high rate of point mutation, by a process called somatic hypermutation (SHM).
We described the distribution of the age of onset of cancer for women carrying a BRCA1 mutation by a cumulative distribution function F x), (i.e. the cumulative risk of developing a cancer before age x, p(X≤x)).
Transformants were also screened for the Δ152 164 mutation by a PCR amplification method that generated either a 209 bp (wild-type) or a 170 bp (Δ152 164 mutant) product (Fig. 2C).
We also confirm the mutation by a direct DNA sequencing in the four breast cancers (data not shown).
Long uninterrupted CAG repeats are known to be a substrate for expansion mutation by a variety of mechanisms.
To access this information, we described the trajectory of each observed sterile mutation by a set of parameters.
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Aflatoxin B1-exposed patients induces R249S mutation by an adduction mechanism in the tumor suppressor protein p53 [5].
This analysis gives additional support to the interpretation of correlated mutations as "one mutation followed by a compensatory mutation".
Presymptomatic testing (PST) is provided to relatives of a cancer-affected patient that has been found to be a mutation carrier by a mutation screening test.
We have also constructed a quadruple mutation by introducing an additional P223G mutation.
A second allele was generated by targeted mutation by introducing a stop codon just upstream of the transmembrane domain.
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