Abstract
Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant cancer-susceptible syndrome that predisposes to the early development of colorectal cancer. Germline mutations in DNA mismatch repair genes, particularly MLH1 and MSH2, are associated with the clinical phenotype of HNPCC. A previously unreported, novel missense mutation in exon 3 of the MSH2 gene (c.380A>T) was identified in the proband and a different missense mutation in exon 3 of MSH2 gene (c.505A>G) was noted in the mother, with a mutual splice mutation in intron 12 of the MSH2 gene in the proband, mother, and younger brother. Here, we report the clinical implications of a novel mutation in a patient with early-onset colorectal cancer and the significance of a common underlying splice site mutation occurring within a family with HNPCC.
| Original language | English |
|---|---|
| Pages (from-to) | 136-139 |
| Number of pages | 4 |
| Journal | Cancer Genetics and Cytogenetics |
| Volume | 182 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - 2008 Apr 15 |
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All Science Journal Classification (ASJC) codes
- Molecular Biology
- Genetics
- Cancer Research
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A novel missense MSH2 gene mutation in a patient of a Korean family with hereditary nonpolyposis colorectal cancer. / Park, Seo Jin; Lee, Kyunga; Park, Tae Sung; Kim, Namkyu; Song, Jaewoo; Kim, Bo Young; Choi, Jong Rak.
In: Cancer Genetics and Cytogenetics, Vol. 182, No. 2, 15.04.2008, p. 136-139.Research output: Contribution to journal › Article
TY - JOUR
T1 - A novel missense MSH2 gene mutation in a patient of a Korean family with hereditary nonpolyposis colorectal cancer
AU - Park, Seo Jin
AU - Lee, Kyunga
AU - Park, Tae Sung
AU - Kim, Namkyu
AU - Song, Jaewoo
AU - Kim, Bo Young
AU - Choi, Jong Rak
PY - 2008/4/15
Y1 - 2008/4/15
N2 - Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant cancer-susceptible syndrome that predisposes to the early development of colorectal cancer. Germline mutations in DNA mismatch repair genes, particularly MLH1 and MSH2, are associated with the clinical phenotype of HNPCC. A previously unreported, novel missense mutation in exon 3 of the MSH2 gene (c.380A>T) was identified in the proband and a different missense mutation in exon 3 of MSH2 gene (c.505A>G) was noted in the mother, with a mutual splice mutation in intron 12 of the MSH2 gene in the proband, mother, and younger brother. Here, we report the clinical implications of a novel mutation in a patient with early-onset colorectal cancer and the significance of a common underlying splice site mutation occurring within a family with HNPCC.
AB - Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant cancer-susceptible syndrome that predisposes to the early development of colorectal cancer. Germline mutations in DNA mismatch repair genes, particularly MLH1 and MSH2, are associated with the clinical phenotype of HNPCC. A previously unreported, novel missense mutation in exon 3 of the MSH2 gene (c.380A>T) was identified in the proband and a different missense mutation in exon 3 of MSH2 gene (c.505A>G) was noted in the mother, with a mutual splice mutation in intron 12 of the MSH2 gene in the proband, mother, and younger brother. Here, we report the clinical implications of a novel mutation in a patient with early-onset colorectal cancer and the significance of a common underlying splice site mutation occurring within a family with HNPCC.
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UR - http://www.scopus.com/inward/citedby.url?scp=41749117956&partnerID=8YFLogxK
U2 - 10.1016/j.cancergencyto.2008.01.011
DO - 10.1016/j.cancergencyto.2008.01.011
M3 - Article
VL - 182
SP - 136
EP - 139
JO - Cancer Genetics and Cytogenetics
JF - Cancer Genetics and Cytogenetics
SN - 0165-4608
IS - 2
ER -