Download Human - Genetics

Supplementary Table 4. Original Sources For MutS Homolog 2 Missense Alleles
Mismatch
Repair
Phenotype
Pseudowild-type
Yeast
Human
Bacterial
T44M
Q63P
Y104C
G122S
T44M
Q61P
Y98C
N123S
N127S
I141M
I145M
D163H
D167H
G317D
G322D
S318C
S318Y
R352H
S323C
S323Y
L402F
L390F
E580V
G692S
A733V
Q852E
A892G
E912G
E562V
A714V
Q823E
A870G
E886G
(BISGAARD et al. 2002)
(MYRIAD GENETIC LABORATORIES)
(KIM et al. 2001)
(WU and MARINUS 1994)
(CHEN-SHTOYERMAN et al. 2003; MYRIAD
GENETIC LABORATORIES; SAMOWITZ et al.
2001; DE LA CHAPELLE et al. UNPUBLISHED)
(MYRIAD GENETIC LABORATORIES;
KREPLOVA et al UNPUBLISHED;
DEFFENBAUGH et al. UNPUBLISHED)
(MOSLEIN et al. 1996; SAMOWITZ et al.
2001; SCARTOZZI et al. 2002)
(BRIEGER et al. 1999; FROGGATT et al.
1996; KURZAWSKI et al. 2002; LIU et al.
1995; LIU et al. 1998; MALIAKA et al. 1996;
MYRIAD GENETIC LABORATORIES;
SALOVAARA et al. 2000; SAMOWITZ et al.
2001; CALDES et al. UNPUBLISHED;
DEFFENBAUGH et al. UNPUBLISHED;
WAHLBERG et al. 1999)
(KIM et al. 2001)
(AKIYAMA et al. 1997)
(WU and MARINUS 1994)
(BANNO et al. 2003; KONISHI et al. 1996;
KURZAWSKI et al. 2002; OKAMURA et al.
1998)
(BECK et al. 1997)
(WU and MARINUS 1994)
(KIM et al. 2001)
(KIM et al. 2001)
(KIM et al. 2001)
(BISGAARD et al. 2002)
T347I
K873E
M707I
T335I
K845E
M688I
(KIM et al. 2001)
(NOMURA et al. 2000)
(BANNO et al. 2003; YUAN et al. 1998)
G117S
R305H
G618S
Original Source
Intermediate
Defective
Mismatch
Repair
Phenotype
Yeast
Human
C67Y₤
E194G
C195R
C345R
C345Y
G350R
R371S
L457P
L521P
D524Y
R542P
A618V
D621N
P640L
H658R
H658Y
G688D
E198G
C199R
C333R
C333Y
G338R
R359S
L440P
L503P
D506Y
R524P
A600V
D603N
P622L
H639R
H639Y
G693D
G674D
G693S
S695N
G711D₤
G711R
C716F
G674S
C716R
C697R
G770R
S742L
S742F
T743I
E747K
S762Y₤
E768K
G772D
G772E
G751R
Bacterial
G614D
S621N
G692R
C697F
S668L
S723F
T669I
E673K
E694K
G698D
G698E
Original Source
This work
(UNPUBLISHED; WAHLBERG et al. 1999)
(LEUNG et al. 1998)
(DE LA CHAPELLE et al. UNPUBLISHED)
(BENNET et al. UNPUBLISHED)
(KREPLOVA et al UNPUBLISHED)
(SCARTOZZI et al. 2002)
(AVIZIENYTE et al UNPUBLISHED)
(MYRIAD GENETIC LABORATORIES)
(HAN et al. 1996)
(ORTH et al. 1994)
(FURUKAWA et al. 2002)
(SALOVAARA et al. 2000)
(LEACH et al. 1993; LIU et al. 1994)
(NAKAHARA et al. 1997)
(LEACH et al. 1993)
(WU and MARINUS 1994)
(ANDREUTTI-ZAUGG et al. 1997; YUAN et
al. 1999)
(BORRESEN et al. 1995; HEINEN et al. 2002)
(WU and MARINUS 1994)
This work
(ISIDRO et al. 2000)
(WEHNER et al. 1997)
(BRIEGER et al. 1999; ISIDRO et al. 2000;
WANG et al. 1999)
(DORE et al. 1999)
(WU and MARINUS 1994)
(FURUKAWA et al. 2002)
(WU and MARINUS 1994)
(WU and MARINUS 1994)
This work
(WU and MARINUS 1994)
(WU and MARINUS 1994)
(WU and MARINUS 1994)
AKIYAMA, Y., N. TSUBOUCHI and Y. YUASA, 1997 Frequent somatic mutations of
hMSH3 with reference to microsatellite instability in hereditary nonpolyposis
colorectal cancers. Biochem Biophys Res Commun 236: 248-252.
ANDREUTTI-ZAUGG, C., R. J. SCOTT and R. IGGO, 1997 Inhibition of nonsense-mediated
messenger RNA decay in clinical samples facilitates detection of human MSH2
mutations with an in vivo fusion protein assay and conventional techniques.
Cancer Res 57: 3288-3293.
BANNO, K., N. SUSUMU, T. HIRAO, M. YANOKURA, A. HIRASAWA et al., 2003
Identification of germline MSH2 gene mutations in endometrial cancer not
fulfilling the new clinical criteria for hereditary nonpolyposis colorectal cancer.
Cancer Genet Cytogenet 146: 58-65.
BECK, N. E., I. P. TOMLINSON, T. HOMFRAY, I. FRAYLING, S. V. HODGSON et al., 1997
Use of SSCP analysis to identify germline mutations in HNPCC families fulfilling
the Amsterdam criteria. Hum Genet 99: 219-224.
BISGAARD, M. L., A. C. JAGER, T. MYRHOJ, I. BERNSTEIN and F. C. NIELSEN, 2002
Hereditary non-polyposis colorectal cancer (HNPCC): phenotype-genotype
correlation between patients with and without identified mutation. Hum Mutat 20:
20-27.
BORRESEN, A. L., R. A. LOTHE, G. I. MELING, S. LYSTAD, P. MORRISON et al., 1995
Somatic mutations in the hMSH2 gene in microsatellite unstable colorectal
carcinomas. Hum Mol Genet 4: 2065-2072.
BRIEGER, A., J. TROJAN, J. RAEDLE, W. K. ROTH and S. ZEUZEM, 1999 Identification of
germline mutations in hereditary nonpolyposis colorectal cancer using base
excision sequence scanning analysis. Clin Chem 45: 1564-1567.
CHEN-SHTOYERMAN, R., L. THEODOR, E. HARMATI, E. FRIEDMAN, S. DACKA et al., 2003
Genetic analysis of familial colorectal cancer in Israeli Arabs. Hum Mutat 21:
446-447.
DORE, M. X., B. DIEUMEGARD, S. GRANDJOUAN, M. F. AVRIL, C. MARTINET et al., 1999
[Muir-Torre syndrome and familial colorectal cancer: 2 families with molecular
genetic analysis]. Ann Dermatol Venereol 126: 582-586.
FROGGATT, N. J., J. A. JOYCE, D. G. EVANS, P. W. LUNT, D. J. KOCH et al., 1996 MSH2
sequence variations and inherited colorectal cancer susceptibility. Eur J Cancer
32A: 178.
FURUKAWA, T., F. KONISHI, K. SHITOH, M. KOJIMA, H. NAGAI et al., 2002 Evaluation of
screening strategy for detecting hereditary nonpolyposis colorectal carcinoma.
Cancer 94: 911-920.
HAN, H. J., Y. YUAN, J. L. KU, J. H. OH, Y. J. WON et al., 1996 Germline mutations of
hMLH1 and hMSH2 genes in Korean hereditary nonpolyposis colorectal cancer. J
Natl Cancer Inst 88: 1317-1319.
HEINEN, C. D., T. WILSON, A. MAZUREK, M. BERARDINI, C. BUTZ et al., 2002 HNPCC
mutations in hMSH2 result in reduced hMSH2-hMSH6 molecular switch
functions. Cancer Cell 1: 469-478.
ISIDRO, G., I. VEIGA, P. MATOS, S. ALMEIDA, S. BIZARRO et al., 2000 Four novel MSH2 /
MLH1 gene mutations in portuguese HNPCC families. Hum Mutat 15: 116.
KIM, J. C., H. C. KIM, S. A. ROH, K. H. KOO, D. H. LEE et al., 2001 hMLH1 and hMSH2
mutations in families with familial clustering of gastric cancer and hereditary nonpolyposis colorectal cancer. Cancer Detect Prev 25: 503-510.
KONISHI, M., R. KIKUCHI-YANOSHITA, K. TANAKA, M. MURAOKA, A. ONDA et al., 1996
Molecular nature of colon tumors in hereditary nonpolyposis colon cancer,
familial polyposis, and sporadic colon cancer. Gastroenterology 111: 307-317.
KURZAWSKI, G., K. SAFRANOW, J. SUCHY, D. CHLUBEK, R. J. SCOTT et al., 2002 Mutation
analysis of MLH1 and MSH2 genes performed by denaturing high-performance
liquid chromatography. J Biochem Biophys Methods 51: 89-100.
LEACH, F. S., N. C. NICOLAIDES, N. PAPADOPOULOS, B. LIU, J. JEN et al., 1993 Mutations
of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell 75: 12151225.
LEUNG, S. Y., T. L. CHAN, L. P. CHUNG, A. S. CHAN, Y. W. FAN et al., 1998
Microsatellite instability and mutation of DNA mismatch repair genes in gliomas.
Am J Pathol 153: 1181-1188.
LIU, B., N. C. NICOLAIDES, S. MARKOWITZ, J. K. WILLSON, R. E. PARSONS et al., 1995
Mismatch repair gene defects in sporadic colorectal cancers with microsatellite
instability. Nat Genet 9: 48-55.
LIU, B., R. E. PARSONS, S. R. HAMILTON, G. M. PETERSEN, H. T. LYNCH et al., 1994
hMSH2 mutations in hereditary nonpolyposis colorectal cancer kindreds. Cancer
Res 54: 4590-4594.
LIU, T., P. STATHOPOULOS, P. LINDBLOM, C. RUBIO, B. WASTESON ARVER et al., 1998
MSH2 codon 322 Gly to Asp seems not to confer an increased risk for colorectal
cancer susceptibility. Eur J Cancer 34: 1981.
MALIAKA, Y. K., A. P. CHUDINA, N. F. BELEV, P. ALDAY, N. P. BOCHKOV et al., 1996
CpG dinucleotides in the hMSH2 and hMLH1 genes are hotspots for HNPCC
mutations. Hum Genet 97: 251-255.
MOSLEIN, G., D. J. TESTER, N. M. LINDOR, R. HONCHEL, J. M. CUNNINGHAM et al., 1996
Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients
with sporadic, familial and hereditary colorectal cancer. Hum Mol Genet 5: 12451252.
NAKAHARA, M., H. YOKOZAKI, W. YASUI, K. DOHI and E. TAHARA, 1997 Identification
of concurrent germ-line mutations in hMSH2 and/or hMLH1 in Japanese
hereditary nonpolyposis colorectal cancer kindreds. Cancer Epidemiol
Biomarkers Prev 6: 1057-1064.
NOMURA, S., K. SUGANO, H. KASHIWABARA, T. TANIGUCHI, N. FUKAYAMA et al., 2000
Enhanced detection of deleterious and other germline mutations of hMSH2 and
hMLH1 in Japanese hereditary nonpolyposis colorectal cancer kindreds. Biochem
Biophys Res Commun 271: 120-129.
OKAMURA, S., K. KOYAMA, Y. MIYOSHI, M. MONDEN and M. TAKAMI, 1998 Novel
germline mutations of hMSH2 in a patient with hereditary nonpolyposis
colorectal cancer (HNPCC) and in a patient with six primary cancers. J Hum
Genet 43: 143-145.
ORTH, K., J. HUNG, A. GAZDAR, A. BOWCOCK, J. M. MATHIS et al., 1994 Genetic
instability in human ovarian cancer cell lines. Proc Natl Acad Sci U S A 91:
9495-9499.
SALOVAARA, R., A. LOUKOLA, P. KRISTO, H. KAARIAINEN, H. AHTOLA et al., 2000
Population-based molecular detection of hereditary nonpolyposis colorectal
cancer. J Clin Oncol 18: 2193-2200.
SAMOWITZ, W. S., K. CURTIN, H. H. LIN, M. A. ROBERTSON, D. SCHAFFER et al., 2001
The colon cancer burden of genetically defined hereditary nonpolyposis colon
cancer. Gastroenterology 121: 830-838.
SCARTOZZI, M., F. BIANCHI, S. ROSATI, E. GALIZIA, A. ANTOLINI et al., 2002 Mutations
of hMLH1 and hMSH2 in patients with suspected hereditary nonpolyposis
colorectal cancer: correlation with microsatellite instability and abnormalities of
mismatch repair protein expression. J Clin Oncol 20: 1203-1208.
WAHLBERG, S., T. LIU, P. LINDBLOM and A. LINDBLOM, 1999 Various mutation screening
techniques in the DNA mismatch repair genes hMSH2 and hMLH1. Genet Test 3:
259-264.
WANG, Q., C. LASSET, F. DESSEIGNE, J. C. SAURIN, C. MAUGARD et al., 1999 Prevalence
of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in
75 French kindreds with nonpolyposis colorectal cancer. Hum Genet 105: 79-85.
WEHNER, M., L. BUSCHHAUSEN, C. LAMBERTI, R. KRUSE, R. CASPARI et al., 1997
Hereditary nonpolyposis colorectal cancer (HNPCC): eight novel germline
mutations in hMSH2 or hMLH1 genes. Hum Mutat 10: 241-244.
WU, T. H., and M. G. MARINUS, 1994 Dominant negative mutator mutations in the mutS
gene of Escherichia coli. J Bacteriol 176: 5393-5400.
YUAN, Y., H. J. HAN, S. ZHENG and J. G. PARK, 1998 Germline mutations of hMLH1 and
hMSH2 genes in patients with suspected hereditary nonpolyposis colorectal
cancer and sporadic early-onset colorectal cancer. Dis Colon Rectum 41: 434440.
YUAN, Z. Q., N. WONG, W. D. FOULKES, L. ALPERT, F. MANGANARO et al., 1999 A
missense mutation in both hMSH2 and APC in an Ashkenazi Jewish HNPCC
kindred: implications for clinical screening. J Med Genet 36: 790-793.