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Ref Type Journal Article
PMID (22810696)
Authors null null
Title Comprehensive molecular characterization of human colon and rectal cancer.
Journal Nature
Vol 487
Issue 7407
Date 2012 Jul 18
URL
Abstract Text To characterize somatic alterations in colorectal carcinoma, we conducted a genome-scale analysis of 276 samples, analysing exome sequence, DNA copy number, promoter methylation and messenger RNA and microRNA expression. A subset of these samples (97) underwent low-depth-of-coverage whole-genome sequencing. In total, 16% of colorectal carcinomas were found to be hypermutated: three-quarters of these had the expected high microsatellite instability, usually with hypermethylation and MLH1 silencing, and one-quarter had somatic mismatch-repair gene and polymerase ε (POLE) mutations. Excluding the hypermutated cancers, colon and rectum cancers were found to have considerably similar patterns of genomic alteration. Twenty-four genes were significantly mutated, and in addition to the expected APC, TP53, SMAD4, PIK3CA and KRAS mutations, we found frequent mutations in ARID1A, SOX9 and FAM123B. Recurrent copy-number alterations include potentially drug-targetable amplifications of ERBB2 and newly discovered amplification of IGF2. Recurrent chromosomal translocations include the fusion of NAV2 and WNT pathway member TCF7L1. Integrative analyses suggest new markers for aggressive colorectal carcinoma and an important role for MYC-directed transcriptional activation and repression.

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Molecular Profile Treatment Approach
Gene Name Source Synonyms Protein Domains Gene Description Gene Role
Therapy Name Drugs Efficacy Evidence Clinical Trials
Drug Name Trade Name Synonyms Drug Classes Drug Description
Gene Variant Impact Protein Effect Variant Description Associated with drug Resistance
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, Jul 2020).
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), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Mar 2020).
ASXL1 A498S missense unknown ASXL1 A498S lies within the NCOA1-interacting region of the Asxl1 protein (UniProt.org). A498S has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Asxl1 protein function is unknown (PubMed, Mar 2020).
ASXL1 R265H missense unknown ASXL1 R265H lies within the ASXM domain of the Asxl1 protein (PMID: 19609284). R265H has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Asxl1 protein function is unknown (PubMed, Mar 2020).
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, Aug 2020).
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, Aug 2020).
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), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2020).
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, Aug 2020).
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, Aug 2020).
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, Feb 2020).
BCOR W509C missense unknown BCOR W509C lies within the BCL6-interacting region of the Bcor protein (UniProt.org). W509C has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Bcor protein function is unknown (PubMed, Mar 2020).
CBLB G658A missense unknown CBLB G658A does not lie within any known functional domains of the Cblb protein (UniProt.org). G658A has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Cblb protein function is unknown (PubMed, Jul 2020).
CBLB V654I missense unknown CBLB V654I does not lie within any known functional domains of the Cblb protein (UniProt.org). V654I has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Cblb protein function is unknown (PubMed, Jul 2020).
CDH1 D291N missense unknown CDH1 D291N lies within the Cadherin domain 2 of the Cdh1 protein (UniProt.org). D291N has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
CDH1 V365I missense unknown CDH1 V365I lies within the Cadherin domain 2 of the Cdh1 protein (UniProt.org). V365I has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
CSF1R Y360C missense unknown CSF1R Y360C lies within the Ig-like C2-type domain 4 of the Csf1r protein (UniProt.org). Y360C has been identified in sequencing studies (PMID: 22810696, PMID: 28069802), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, May 2020).
CSF3R R190H missense unknown CSF3R R190H lies within the 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, Jul 2020).
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, Feb 2020).
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, Feb 2020).
DDR2 D661Y missense unknown DDR2 D661Y lies within the protein kinase domain of the Ddr2 protein (UniProt.org). D661Y has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Ddr2 protein function is unknown (PubMed, Jul 2020).
ERBB4 E934K missense unknown ERBB4 E934K lies within the protein kinase domain of the Erbb4 protein (UniProt.org). E934K has been identified in sequencing studies (PMID: 26933808, PMID: 26010451, PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jun 2020).
ERBB4 I166N missense unknown ERBB4 I166N lies within the extracellular domain of the Erbb4 protein (UniProt.org). I166N has been identified in sequencing studies (PMID: 30115035, PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
ERBB4 M882I missense unknown ERBB4 M882I lies within the protein kinase domain of the Erbb4 protein (UniProt.org). M882I has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
ETV6 R259G missense unknown ETV6 R259G lies within the linker domain of the Etv6 protein (PMID: 25581430). R259G has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Etv6 protein function is unknown (PubMed, Apr 2020).
ETV6 R264C missense unknown ETV6 R264C lies within the linker domain of the Etv6 protein (PMID: 25581430). R264C has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Etv6 protein function is unknown (PubMed, Apr 2020).
ETV6 R369W missense unknown ETV6 R369W lies within the ETS domain of the Etv6 protein (PMID: 25581430). R369W has been identified in sequencing studies (PMID: 22810696, PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Etv6 protein function is unknown (PubMed, Apr 2020).
EZH2 R213H missense unknown EZH2 R213H lies within DNMT1, DNMT3A and DNMT3B-interacting region of the Ezh2 protein (UniProt.org). R213H has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Apr 2020).
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 not been characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Apr 2020).
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), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Apr 2020).
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), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, May 2020).
FBXW7 E287V missense unknown FBXW7 E287V lies within the F-box domain of the Fbxw7 protein (UniProt.org). E287V has been identified in sequencing studies (PMID: 22810696, PMID: 28924241), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, May 2020).
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: 22810696), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, May 2020).
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, May 2020).
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, May 2020).
FGFR1 G610D missense unknown FGFR1 G610D lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). G610D 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, Mar 2020).
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, Jun 2020).
FGFR2 D336N missense unknown FGFR2 D336N lies within the 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 2020).
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), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, May 2020).
FGFR2 R203H missense unknown FGFR2 R203H lies within the Ig-like C2-type domain 2 of the Fgfr2 protein (UniProt.org). R203H has been identified in sequencing studies (PMID: 22810696, PMID: 30796031, PMID: 30393068), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, May 2020).
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, Mar 2020).
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, Mar 2020).
GATA1 E328K missense unknown GATA1 E328K lies within the MED1 and CCAR1-interacting region of the Gata1 protein (UniProt.org). E328K has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Gata1 protein function is unknown (PubMed, May 2020).
GATA1 G366C missense unknown GATA1 G366C does not lie within any known functional domains of the Gata1 protein (UniProt.org). G366C has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Gata1 protein function is unknown (PubMed, May 2020).
GATA2 A302S missense unknown GATA2 A302S lies within the GATA-type zinc finger domain 1 of the Gata2 protein (UniProt.org). A302S has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Gata2 protein function is unknown (PubMed, May 2020).
GNAQ L135V missense unknown GNAQ L135V lies within the G-alpha domain of the Gnaq protein (UniProt.org). L135V has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Gnaq protein function is unknown (PubMed, Feb 2020).
GNAQ R181T missense unknown GNAQ R181T lies within the G-alpha domain of the Gnaq protein (UniProt.org). R181T has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Gnaq protein function is unknown (PubMed, Feb 2020).
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, Mar 2020).
IKZF1 G485D missense unknown IKZF1 G485D does not lie within any known functional domains of the Ikzf1 protein (UniProt.org). G485D has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Ikzf1 protein function is unknown (PubMed, May 2020).
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, Apr 2020).
KDM6A V607M missense unknown KDM6A V607M lies within the SUPT6H-interacting region of the Kdm6a protein (UniProt.org). V607M has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Kdm6a protein function is unknown (PubMed, Mar 2020).
KDR D39Y missense unknown KDR (VEGFR2) D39Y lies within the extracellular domain of the Kdr (Vegfr2) protein (UniProt.org). D39Y has been identified in sequencing studies (PMID: 29338072, PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Jul 2020).
KDR S338Y missense unknown KDR (VEGFR2) S338Y lies within the Ig-like C2-type domain 4 of the Kdr (Vegfr2) protein (UniProt.org). S338Y has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Jul 2020).
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, Jul 2020).
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, Jul 2020).
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, Jul 2020).
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, Jul 2020).
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), but has not been biochemically characterized and therefore, its effect on Kmt2a protein function is unknown (PubMed, Jul 2020).
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, Apr 2020).
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, Mar 2020).
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, Mar 2020).
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, Mar 2020).
MPL V285L missense unknown MPL V285L lies within the extracellular domain of the Mpl protein (UniProt.org). V285L has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Mpl protein function is unknown (PubMed, Apr 2020).
MSH6 A457D missense unknown MSH6 A457D lies within the mismatch binding region 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, May 2020).
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, Mar 2020).
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, Jun 2020).
PIK3CA R777M missense unknown PIK3CA R777M does not lie within any known functional domains 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 2020).
PTPN11 D155Y missense unknown PTPN11 D155Y lies within the SH2 domain 2 of the Ptpn11 protein (UniProt.org). D155Y has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Ptpn11 protein function is unknown (PubMed, Jul 2020).
RAD21 P443L missense unknown RAD21 P443L does not lie within any known functional domains of the Rad21 protein (UniProt.org). P443L has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
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, Mar 2020).
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, Jul 2020).
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 2020).
RSPO3 T193A missense unknown RSPO3 T193A lies within the TSP type-1 domain of the Rspo3 protein (UniProt.org). T193A has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Rspo3 protein function is unknown (PubMed, Mar 2020).
SETBP1 D1465N missense unknown SETBP1 D1465N lies within the SET binding domain of the Setbp1 protein (PMID: 23222956). D1465N has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Setbp1 protein function is unknown (PubMed, May 2020).
SETBP1 E481D missense unknown SETBP1 E481D does not lie within any known functional domains of the Setbp1 protein (PMID: 23222956). E481D has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Setbp1 protein function is unknown (PubMed, May 2020).
SETBP1 K939M missense unknown SETBP1 K939M does not lie within any known functional domains of the Setbp1 protein (PMID: 23222956). K939M has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Setbp1 protein function is unknown (PubMed, May 2020).
SETBP1 L1147F missense unknown SETBP1 L1147F does not lie within any known functional domains of the Setbp1 protein (PMID: 23222956). L1147F has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Setbp1 protein function is unknown (PubMed, May 2020).
SETBP1 Q378H missense unknown SETBP1 Q378H does not lie within any known functional domains of the Setbp1 protein (PMID: 23222956). Q378H has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Setbp1 protein function is unknown (PubMed, May 2020).
SETBP1 R1008C missense unknown SETBP1 R1008C does not lie within any known functional domains of the Setbp1 protein (PMID: 23222956). R1008C has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Setbp1 protein function is unknown (PubMed, May 2020).
SF3B1 A284T missense unknown SF3B1 A284T lies within the U2AF homology and PPP1R8-interacting region of the Sf3b1 protein (UniProt.org). A284T has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Aug 2020).
SF3B1 A708V missense unknown SF3B1 A708V lies within HEAT repeat 5 of the Sf3b1 protein (UniProt.org). A708V has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Aug 2020).
SF3B1 I1073M missense unknown SF3B1 I1073M lies within HEAT repeat 9 of the Sf3b1 protein (UniProt.org). I1073M has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Aug 2020).
SF3B1 I1268M missense unknown SF3B1 I1268M lies within the SF3B3 and SF3B5-interacting region of the Sf3b1 protein (UniProt.org). I1268M has been identified in sequencing studies (PMID: 27618449, PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Aug 2020).
SF3B1 R387Q missense unknown SF3B1 R387Q lies within the PPP1R8-interacting region of the Sf3b1 protein (UniProt.org). R387Q has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Apr 2020).
SF3B1 R425Q missense unknown SF3B1 R425Q lies within the PPP1R8-interacting region of the Sf3b1 protein (UniProt.org). R425Q has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, May 2020).
SMAD4 L104F missense unknown SMAD4 L104F lies within the MH1 domain of the Smad4 protein (UniProt.org). L104F has been identified in sequencing studies (PMID: 22810696, PMID: 26343386), but has not been biochemically characterized and therefore, its effect on Smad4 protein function is unknown (PubMed, Apr 2020).
SMAD4 V437D missense unknown SMAD4 V437D lies within the MH2 domain of the Smad4 protein (UniProt.org). V437D has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Smad4 protein function is unknown (PubMed, Apr 2020).
SMARCB1 D104N missense unknown SMARCB1 D104N lies within the DNA-binding region of the Smarcb1 protein (UniProt.org). D104N has been identified in sequencing studies (PMID: 30057548, PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Mar 2020).
SMARCB1 F279C missense unknown SMARCB1 F279C lies within the repeat 2 of the Smarcb1 protein (UniProt.org). F279C has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Mar 2020).
SMC3 L375I missense unknown SMC3 L375I does not lie within any known functional domains of the Smc3 protein (UniProt.org). L375I has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
STAG2 E134D missense unknown STAG2 E134D does not lie within any known functional domains of the Stag2 protein (UniProt.org). E134D has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Mar 2020).
STAG2 H217R missense unknown STAG2 H217R does not lie within any known functional domains of the Stag2 protein (UniProt.org). H217R has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Mar 2020).
U2AF1 E184D missense unknown U2AF1 E184D lies within the RS domain of the U2af1 protein (UniProt.org). E184D has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on U2af1 protein function is unknown (PubMed, Apr 2020).
U2AF1 R198Q missense unknown U2AF1 R198Q lies within the RS domain of the U2af1 protein (UniProt.org). R198Q has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on U2af1 protein function is unknown (PubMed, Apr 2020).
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