Abstract
Hereditary nonpolyposis colorectal cancer (HNPCC) (MIM #114500), also called Lynch syndrome, is an autosomal dominantly inherited cancer syndrome accounting for 1-5% of all colorectal cancer cases. In a study of three Korean families with HNPCC consistent with the revised Bethesda criteria, DNA testing revealed three novel HNPCC germline mutations in two genes: namely, MLH1, with an insertion resulting in a frameshift and a premature stop codon; MSH2, with a deletion at nucleotide 633, exon 3, which results in stop of translation at codon 213; and MSH2, with a deletion at nucleotide 1413, exon 9, resulting in a frameshift and a premature stop codon. In the first two families, there were splice mutations at c.2006-6 thymine to cytosine. The clinical implications of a frameshift mutation are discussed, along with the significance of common underlying splice mutations existing within families with HNPCC.
| Original language | English |
|---|---|
| Pages (from-to) | 61-64 |
| Number of pages | 4 |
| Journal | Cancer genetics and cytogenetics |
| Volume | 188 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - 2009 Jan 15 |
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All Science Journal Classification (ASJC) codes
- Molecular Biology
- Genetics
- Cancer Research
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Three new nonsense mutations of MLH1 and MSH2 genes in Korean families with hereditary nonpolyposis colorectal cancer. / Yoon, Seoyoung; Park, Tae Sung; Kim, Nam Kyu; Lee, Kyung A.; Kim, Juwon; Song, Jaewoo; Kim, Bo Young; Choi, Jong Rak.
In: Cancer genetics and cytogenetics, Vol. 188, No. 2, 15.01.2009, p. 61-64.Research output: Contribution to journal › Article
TY - JOUR
T1 - Three new nonsense mutations of MLH1 and MSH2 genes in Korean families with hereditary nonpolyposis colorectal cancer
AU - Yoon, Seoyoung
AU - Park, Tae Sung
AU - Kim, Nam Kyu
AU - Lee, Kyung A.
AU - Kim, Juwon
AU - Song, Jaewoo
AU - Kim, Bo Young
AU - Choi, Jong Rak
PY - 2009/1/15
Y1 - 2009/1/15
N2 - Hereditary nonpolyposis colorectal cancer (HNPCC) (MIM #114500), also called Lynch syndrome, is an autosomal dominantly inherited cancer syndrome accounting for 1-5% of all colorectal cancer cases. In a study of three Korean families with HNPCC consistent with the revised Bethesda criteria, DNA testing revealed three novel HNPCC germline mutations in two genes: namely, MLH1, with an insertion resulting in a frameshift and a premature stop codon; MSH2, with a deletion at nucleotide 633, exon 3, which results in stop of translation at codon 213; and MSH2, with a deletion at nucleotide 1413, exon 9, resulting in a frameshift and a premature stop codon. In the first two families, there were splice mutations at c.2006-6 thymine to cytosine. The clinical implications of a frameshift mutation are discussed, along with the significance of common underlying splice mutations existing within families with HNPCC.
AB - Hereditary nonpolyposis colorectal cancer (HNPCC) (MIM #114500), also called Lynch syndrome, is an autosomal dominantly inherited cancer syndrome accounting for 1-5% of all colorectal cancer cases. In a study of three Korean families with HNPCC consistent with the revised Bethesda criteria, DNA testing revealed three novel HNPCC germline mutations in two genes: namely, MLH1, with an insertion resulting in a frameshift and a premature stop codon; MSH2, with a deletion at nucleotide 633, exon 3, which results in stop of translation at codon 213; and MSH2, with a deletion at nucleotide 1413, exon 9, resulting in a frameshift and a premature stop codon. In the first two families, there were splice mutations at c.2006-6 thymine to cytosine. The clinical implications of a frameshift mutation are discussed, along with the significance of common underlying splice mutations existing within families with HNPCC.
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UR - http://www.scopus.com/inward/citedby.url?scp=57549090222&partnerID=8YFLogxK
U2 - 10.1016/j.cancergencyto.2008.09.001
DO - 10.1016/j.cancergencyto.2008.09.001
M3 - Article
C2 - 19100506
AN - SCOPUS:57549090222
VL - 188
SP - 61
EP - 64
JO - Cancer Genetics and Cytogenetics
JF - Cancer Genetics and Cytogenetics
SN - 0165-4608
IS - 2
ER -