Efficiency of olaparib in colorectal cancer patients with an alteration of the homologous repair protein

Table 2 Alterations observed for Case 2 in the short list of clinically relevant genes

Gene	Nucleotide variation	Protein variation	Origin	Impact
APC	c.3949G>C	Glu1317Gln	Constitutive	Potentially Pathogenic
BRCA1	c.5180G>C	Gly1727Ala	Somatic	Unknown
BRCA1	c.3119G>A	Ser1040Asn	Constitutive	SNP
BRCA1	c.2521C>T	Arg841Trp	Somatic	Neutral
FGFR4	c.1676G>A	Arg559Gln	Somatic	Unknown
GLI2	c.1418G>A	Arg473His	Constitutive	Unknown
JAK2	c.195A>C	Glu65Asp	Constitutive	Unknown
JAK3	c.2164G>A	Val722Ile	Constitutive	Activating
KDR	c.2159G>A	Arg720Gln	Somatic	Unknown
KRAS	c.35G>A	Gly12Asp	Somatic	Activating
MET	c.2572G>A	Val858Met	Constitutive	Unknown
RAD51C	c.859A>G	Thr287Ala	Somatic	Loss of function
SLC28A1	c.568G>T	Ala190Ser	Constitutive	SNP
SLC28A1	c.1152delG	Val385Ser fsX16	Constitutive	Loss of function
THRA	c.454C>T	Arg152X	Somatic	Loss of function
UIMC1	c.43C>T	Arg15Trp	Constitutive	Unknown

SNP: Single nucleotide polymorphism.