Abstract
Gastric cancer occurs in some familial diseases with inherited cancer predisposition. Genetic factors have been correlated with the hereditary diffuse gastric cancer and other familial gastric cancer conditions as hereditary non-polyposis colorectal cancer and Li-Fraumeni syndrome. The present study was aimed at searching for germ line mutations of TP53 gene in familial gastric cancer with cluster for Li-Fraumeni syndrome or Li-Fraumeni-like syndrome. Twenty-three pedigrees with characteristics for Li-Fraumeni-like syndrome were identified. DNA of the proband was sequenced using polymerase chain reaction/single-strand conformation polymorphism. Among these 23 cases, no germ line mutation of TP53 was identified, while two single-nucleotide polymorphisms were identified in four patients. In our area, in which a high rate of familial aggregation was demonstrated, the lack of germ line mutation of TP53 together with the infrequency of mutation of E-cadherin gene seem to limit the role of genetic predisposition in the development of gastric cancer.
| Original language | English |
|---|---|
| Pages (from-to) | 377-381 |
| Number of pages | 5 |
| Journal | European Journal of Cancer Care |
| Volume | 19 |
| Issue number | 3 |
| DOIs | |
| Publication status | Published - May 2010 |
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Keywords
- Germ line mutation
- Li-Fraumeni syndrome
- TP53
ASJC Scopus subject areas
- Oncology
Cite this
Familial gastric cancer and Li-Fraumeni syndrome. / Corso, G.; Pedrazzani, C.; Marrelli, D.; Pinto, E.; Roviello, F.
In: European Journal of Cancer Care, Vol. 19, No. 3, 05.2010, p. 377-381.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Familial gastric cancer and Li-Fraumeni syndrome
AU - Corso, G.
AU - Pedrazzani, C.
AU - Marrelli, D.
AU - Pinto, E.
AU - Roviello, F.
PY - 2010/5
Y1 - 2010/5
N2 - Gastric cancer occurs in some familial diseases with inherited cancer predisposition. Genetic factors have been correlated with the hereditary diffuse gastric cancer and other familial gastric cancer conditions as hereditary non-polyposis colorectal cancer and Li-Fraumeni syndrome. The present study was aimed at searching for germ line mutations of TP53 gene in familial gastric cancer with cluster for Li-Fraumeni syndrome or Li-Fraumeni-like syndrome. Twenty-three pedigrees with characteristics for Li-Fraumeni-like syndrome were identified. DNA of the proband was sequenced using polymerase chain reaction/single-strand conformation polymorphism. Among these 23 cases, no germ line mutation of TP53 was identified, while two single-nucleotide polymorphisms were identified in four patients. In our area, in which a high rate of familial aggregation was demonstrated, the lack of germ line mutation of TP53 together with the infrequency of mutation of E-cadherin gene seem to limit the role of genetic predisposition in the development of gastric cancer.
AB - Gastric cancer occurs in some familial diseases with inherited cancer predisposition. Genetic factors have been correlated with the hereditary diffuse gastric cancer and other familial gastric cancer conditions as hereditary non-polyposis colorectal cancer and Li-Fraumeni syndrome. The present study was aimed at searching for germ line mutations of TP53 gene in familial gastric cancer with cluster for Li-Fraumeni syndrome or Li-Fraumeni-like syndrome. Twenty-three pedigrees with characteristics for Li-Fraumeni-like syndrome were identified. DNA of the proband was sequenced using polymerase chain reaction/single-strand conformation polymorphism. Among these 23 cases, no germ line mutation of TP53 was identified, while two single-nucleotide polymorphisms were identified in four patients. In our area, in which a high rate of familial aggregation was demonstrated, the lack of germ line mutation of TP53 together with the infrequency of mutation of E-cadherin gene seem to limit the role of genetic predisposition in the development of gastric cancer.
KW - Germ line mutation
KW - Li-Fraumeni syndrome
KW - TP53
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U2 - 10.1111/j.1365-2354.2008.01066.x
DO - 10.1111/j.1365-2354.2008.01066.x
M3 - Article
C2 - 19674071
AN - SCOPUS:77953167139
VL - 19
SP - 377
EP - 381
JO - European Journal of Cancer Care
JF - European Journal of Cancer Care
SN - 0961-5423
IS - 3
ER -