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Molecular Profile	Treatment Approach
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Gene Name	Source	Synonyms	Protein Domains	Gene Description	Gene Role
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Therapy Name	Drugs	Efficacy Evidence	Clinical Trials
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Drug Name	Trade Name	Synonyms	Drug Classes	Drug Description
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Showing 1 to 47 of 47 entries

Gene	Variant	Impact	Protein Effect	Variant Description
MLH1	R9Q	missense	unknown	MLH1 R9Q lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). R9Q has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Mlh1 protein function is unknown (PubMed, Nov 2024).
FBXW7	R14Q	missense	unknown	FBXW7 R14Q does not lie within any known functional domains of the Fbxw7 protein (UniProt.org). R14Q has been identified in sequencing studies (PMID: 22810696, PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Apr 2025).
FLT3	S71I	missense	unknown	FLT3 S71I lies within the extracellular domain of the Flt3 protein (UniProt.org). S71I has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2025).
RET	R77H	missense	unknown	RET R77H lies within the extracellular domain of the Ret protein (UniProt.org). R77H has been identified in sequencing studies (PMID: 27626691, PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Feb 2025).
CTNNB1	D162E	missense	unknown	CTNNB1 D162E lies within ARM repeat 1 of the Ctnnb1 protein (UniProt.org). D162E has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Apr 2025).
ATR	R177Q	missense	unknown	ATR R177Q does not lie within any known functional domains of the Atr protein (UniProt.org). R177Q has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2025).
FBXW7	R179H	missense	unknown	FBXW7 R179H does not lie within any known functional domains of the Fbxw7 protein (UniProt.org). R179H has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Apr 2025).
BARD1	V183L	missense	unknown	BARD1 V183L lies within the RAD51-interacting domain of the Bard1 protein (PMID: 28976962). V183L has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Bard1 protein function is unknown (PubMed, Jan 2025).
MSH6	K185T	missense	unknown	MSH6 K185T does not lie within any known functional domains of the Msh6 protein (UniProt.org). K185T has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Apr 2025).
CSF3R	R190H	missense	unknown	CSF3R R190H lies within fibronectin type-III domain 1 of the Csf3r protein (UniProt.org). R190H has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2025).
JAK2	R215Q	missense	unknown	JAK2 R215Q lies within the FERM domain of the Jak2 protein (UniProt.org). R215Q has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Mar 2025).
ATRX	R246H	missense	unknown	ATRX R246H lies within the ADD domain of the Atrx protein (UniProt.org). R246H has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2025).
CSF3R	R269C	missense	unknown	CSF3R R269C lies within fibronectin type-III domain 2 of the Csf3r protein (UniProt.org). R269C has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2025).
FGFR2	D336N	missense	unknown	FGFR2 D336N lies within Ig-like C2-type domain 3 of the Fgfr2 protein (UniProt.org). D336N has been identified in sequencing studies (PMID: 22810696, PMID: 26373574), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, May 2025).
FGFR1	S430F	missense	unknown	FGFR1 S430F lies within the cytoplasmic domain of the Fgfr1 protein (UniProt.org). S430F has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Oct 2024).
FBXW7	G437R	missense	unknown	FBXW7 G437R lies within WD repeat 2 of the Fbxw7 protein (UniProt.org). G437R has been identified in sequencing studies (PMID: 34975100, PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Apr 2025).
IDH2	I441T	missense	unknown	IDH2 I441T does not lie within any known functional domains of the Idh2 protein (UniProt.org). I441T has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Apr 2025).
MSH6	A457D	missense	unknown	MSH6 A457D lies within the mismatch binding domain of the Msh6 protein (PMID: 17531815). A457D has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Feb 2025).
CHEK1	K470*	nonsense	unknown	CHEK1 K470* results in a premature truncation of the Chek1 protein at amino acid 470 of 476 (UniProt.org). K470* has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Chek1 protein function is unknown (PubMed, May 2025).
FANCA	F476L	missense	unknown	FANCA F476L does not lie within any known functional domains of the Fanca protein (UniProt.org). F476L has been identified in sequencing studies (PMID: 22810696, PMID: 33754015), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Dec 2024).
CDK12	D502Y	missense	unknown	CDK12 D502Y does not lie within any known functional domains of the Cdk12 protein (UniProt.org). D502Y has been identified in sequencing studies (PMID: 23303603, PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Cdk12 protein function is unknown (PubMed, Oct 2024).
CTNNB1	R515Q	missense	unknown	CTNNB1 R515Q lies within ARM repeat 9 of the Ctnnb1 protein (UniProt.org). R515Q has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Mar 2025).
FBXW7	D520N	missense	unknown	FBXW7 D520N lies within WD repeat 4 of the Fbxw7 protein (UniProt.org). D520N has been identified in sequencing studies (PMID: 22810696, PMID: 24121792, PMID: 34074070), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Mar 2025).
KMT2A	S534L	missense	unknown	KMT2A S534L does not lie within any known functional domains of the Kmt2a protein (UniProt.org). S534L has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Kmt2a protein function is unknown (PubMed, Oct 2024).
FGFR2	L551I	missense	unknown	FGFR2 L551I lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). L551I has been identified in sequencing studies (PMID: 22810696, PMID: 38983151), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2024).
FGFR1	G610D	missense	unknown	FGFR1 G610D lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). G610D has been identified in the scientific literature (PMID: 36462464, PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Apr 2025).
BRIP1	S624L	missense	unknown	BRIP1 S624L does not lie within any known functional domains of the Brip1 protein (UniProt.org). S624L has been identified in sequencing studies (PMID: 27978560, PMID: 22810696, PMID: 22197931), but has not been biochemically characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Sep 2024).
RB1	M695V	missense	unknown	RB1 M695V lies within domain B of the Rb1 protein (UniProt.org). M695V has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2025).
MLH1	E703A	missense	unknown	MLH1 E703A lies within the C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). E703A has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Mlh1 protein function is unknown (PubMed, Nov 2024).
KMT2A	R736M	missense	unknown	KMT2A R736M does not lie within any known functional domains of the Kmt2a protein (UniProt.org). R736M has been identified in sequencing studies (PMID: 22810696, PMID: 32732356), but has not been biochemically characterized and therefore, its effect on Kmt2a protein function is unknown (PubMed, Feb 2025).
PIK3CA	R777M	missense	unknown	PIK3CA R777M lies within the PI3K/PI4K catalytic domain of the Pik3ca protein (UniProt.org). R777M has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Feb 2025).
FLT3	D895Y	missense	unknown	FLT3 D895Y lies within the protein kinase domain of the Flt3 protein (UniProt.org). D895Y has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2025).
MSH6	L979V	missense	unknown	MSH6 L979V lies within the clamp domain of the Msh6 protein (PMID: 17531815). L979V has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Apr 2025).
KMT2A	E1060D	missense	unknown	KMT2A E1060D does not lie within any known functional domains of the Kmt2a protein (UniProt.org). E1060D has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Kmt2a protein function is unknown (PubMed, Jan 2025).
ARID1A	R1223C	missense	unknown	ARID1A R1223C does not lie within any known functional domains of the Arid1a protein (UniProt.org). R1223C has been identified in sequencing studies (PMID: 22810696, PMID: 28292439, PMID: 30675285), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Apr 2025).
FANCA	E1252K	missense	unknown	FANCA E1252K does not lie within any known functional domains of the Fanca protein (UniProt.org). E1252K has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Dec 2024).
ATM	L1408I	missense	unknown	ATM L1408I does not lie within any known functional domains of the Atm protein (UniProt.org). L1408I has been identified in sequencing studies (PMID: 29107334, PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
ROS1	A1964T	missense	unknown	ROS1 A1964T lies within the protein kinase domain of the Ros1 protein (UniProt.org). A1964T has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, Feb 2025).
ATM	L2077I	missense	unknown	ATM L2077I lies within the FAT domain of the Atm protein (UniProt.org). L2077I has been identified in sequencing studies (PMID: 22810696, PMID: 34954471), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
ATM	F2140V	missense	unknown	ATM F2140V lies within the FAT domain of the Atm protein (UniProt.org). F2140V has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
ARID1A	D2157N	missense	unknown	ARID1A D2157N lies within the GR binding domain of the Arid1a protein (PMID: 23208470). D2157N has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2025).
ATM	P2353T	missense	unknown	ATM P2353T lies within the FAT domain of the Atm protein (UniProt.org). P2353T has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
ATM	R2598Q	missense	unknown	ATM R2598Q does not lie within any known functional domains of the Atm protein (UniProt.org). R2598Q has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
KMT2A	P3095Q	missense	unknown	KMT2A P3095Q does not lie within any known functional domains of the Kmt2a protein (UniProt.org). P3095Q has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Kmt2a protein function is unknown (PubMed, Feb 2025).
KMT2A	G3376D	missense	unknown	KMT2A G3376D does not lie within any known functional domains of the Kmt2a protein (UniProt.org). G3376D has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Kmt2a protein function is unknown (PubMed, Feb 2025).
KMT2A	E3448K	missense	unknown	KMT2A E3448K does not lie within any known functional domains of the Kmt2a protein (UniProt.org). E3448K has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Kmt2a protein function is unknown (PubMed, Feb 2025).
KMT2A	S3576F	missense	unknown	KMT2A S3576F does not lie within any known functional domains of the Kmt2a protein (UniProt.org). S3576F has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Kmt2a protein function is unknown (PubMed, Jan 2025).

Showing 1 to 47 of 47 entries

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Molecular Profile	Indication/Tumor Type	Response Type	Therapy Name	Approval Status	Evidence Type	Efficacy Evidence	References
MLH1 inact mut	colorectal cancer	not applicable	N/A	Preclinical	Emerging	In a preclinical study, MLH1 inactivation through hypermethylation was associated with high microsatellite instability (MSI-H) colorectal carcinoma by whole genome sequencing of tumor samples (PMID: 22810696), suggesting it may be a potential biomarker.	22810696

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