Changes

=== 6. COMMON ALTERATION TYPES Section ===

=== 6. COMMON ALTERATION TYPES Section ===

This section should be completed in concert with the GENE OVERVIEW Section and CANCER CATEGORY/TYPE Section.  It is meant to be an "At a Glance" section for the type of alteration that ARE MOST COMMON ACROSS ALL CANCERS.  The types of alterations are:

This section should be completed in concert with the GENE OVERVIEW Section and CANCER CATEGORY/TYPE Section.  It is meant to be an "At a Glance" section for the type of alteration that ARE MOST COMMON ACROSS ALL CANCERS.  The types of alterations are:

Copy Number Loss

* Copy Number Loss

Copy Number Gain

* Copy Number Gain

LOH (Loss of Heterozygosity)

* LOH (Loss of Heterozygosity)

Loss-of-Function Mutation

* Loss-of-Function Mutation

Gain-of-Function Mutation

* Gain-of-Function Mutation

Translocation/Fusion

* Translocation/Fusion

In an example for TP53, there are two short paragraphs followed by a table.  This is appropriate, becasue TP53 is found in a vast number of different cancers.

In an example for TP53, there are two short paragraphs followed by a table.  This is appropriate, because TP53 is found in a vast number of different cancers.

The ''TP53'' gene contains homozygous mutations in about 50-60% of human cancers. About 90% of the mutations in ''TP53'' encode missense mutant proteins that span about 190 codons in the DNA-binding domain; none of the 50 most common pathogenic missense mutations occur outside of the DNA-binding region. These mutations produce a protein with a reduced capacity to bind to a specific DNA sequence that regulates p53 transcriptional pathway [15]. The eight most common mutations across all cancer types (R175H, R248Q, R273H, R248W, R273C, R282W, G245S, R249S) are found in codons that account for about 28% of the total p53 mutations (See Table 1 in [15]); these alleles appear to be selected for preferentially in human cancers of many tissue types. Seven of the eight mutations occur at methylated CpG sites in ''TP53'', which encode arginine residues that contact the DNA and are conserved over evolutionary time scales [15].

The ''TP53'' gene contains homozygous mutations in about 50-60% of human cancers. About 90% of the mutations in ''TP53'' encode missense mutant proteins that span about 190 codons in the DNA-binding domain; none of the 50 most common pathogenic missense mutations occur outside of the DNA-binding region. These mutations produce a protein with a reduced capacity to bind to a specific DNA sequence that regulates p53 transcriptional pathway [15]. The eight most common mutations across all cancer types (R175H, R248Q, R273H, R248W, R273C, R282W, G245S, R249S) are found in codons that account for about 28% of the total p53 mutations (See Table 1 in [15]); these alleles appear to be selected for preferentially in human cancers of many tissue types. Seven of the eight mutations occur at methylated CpG sites in ''TP53'', which encode arginine residues that contact the DNA and are conserved over evolutionary time scales [15].