Abstract
The recognition of Hereditary Nonpolyposis Colorectal Cancer (HNPCC) remains difficult despite the most recent advancements of molecular biology and technology. We describe two families with early onset of cancer but no suspicion of hereditary tumors; during follow-up, both families developed a tumor spectrum highly suggestive of HNPCC, thus emphasizing the importance of family history for a proper identification of hereditary tumors or cancer aggregation. Microsatellite instability was negative in tumors from both families and, as expected, no germline mutations of the major DNA mismatch repair genes (MSH2 and MLH1) could be detected. Suspicion of the disease at the time of proband's lesion might have led to prevention, or early diagnosis, of at least three malignant tumors. We conclude that a possible genetic origin should always be suspected in individuals with early-onset neoplasms of the large bowel and probably of other organs such as the endometrium, small bowel, and urothelium, even when the initial pedigree does not show marked aggregation of cancers or vertical transmission. (C) 2000 by Am. Coll. of Gastroenterology.
| Original language | English |
|---|---|
| Pages (from-to) | 2110-2115 |
| Number of pages | 6 |
| Journal | American Journal of Gastroenterology |
| Volume | 95 |
| Issue number | 8 |
| DOIs | |
| Publication status | Published - 2000 |
Fingerprint
ASJC Scopus subject areas
- Gastroenterology
Cite this
Problems in the identification of hereditary nonpolyposis colorectal cancer in two families with late development of full-blown clinical spectrum. / de Leon, Maurizio Ponz; Benatti, Piero; Pedroni, Monica; Viel, Alessandra; Genuardi, Maurizio; Percesepe, Antonio; Roncucci, Luca.
In: American Journal of Gastroenterology, Vol. 95, No. 8, 2000, p. 2110-2115.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Problems in the identification of hereditary nonpolyposis colorectal cancer in two families with late development of full-blown clinical spectrum
AU - de Leon, Maurizio Ponz
AU - Benatti, Piero
AU - Pedroni, Monica
AU - Viel, Alessandra
AU - Genuardi, Maurizio
AU - Percesepe, Antonio
AU - Roncucci, Luca
PY - 2000
Y1 - 2000
N2 - The recognition of Hereditary Nonpolyposis Colorectal Cancer (HNPCC) remains difficult despite the most recent advancements of molecular biology and technology. We describe two families with early onset of cancer but no suspicion of hereditary tumors; during follow-up, both families developed a tumor spectrum highly suggestive of HNPCC, thus emphasizing the importance of family history for a proper identification of hereditary tumors or cancer aggregation. Microsatellite instability was negative in tumors from both families and, as expected, no germline mutations of the major DNA mismatch repair genes (MSH2 and MLH1) could be detected. Suspicion of the disease at the time of proband's lesion might have led to prevention, or early diagnosis, of at least three malignant tumors. We conclude that a possible genetic origin should always be suspected in individuals with early-onset neoplasms of the large bowel and probably of other organs such as the endometrium, small bowel, and urothelium, even when the initial pedigree does not show marked aggregation of cancers or vertical transmission. (C) 2000 by Am. Coll. of Gastroenterology.
AB - The recognition of Hereditary Nonpolyposis Colorectal Cancer (HNPCC) remains difficult despite the most recent advancements of molecular biology and technology. We describe two families with early onset of cancer but no suspicion of hereditary tumors; during follow-up, both families developed a tumor spectrum highly suggestive of HNPCC, thus emphasizing the importance of family history for a proper identification of hereditary tumors or cancer aggregation. Microsatellite instability was negative in tumors from both families and, as expected, no germline mutations of the major DNA mismatch repair genes (MSH2 and MLH1) could be detected. Suspicion of the disease at the time of proband's lesion might have led to prevention, or early diagnosis, of at least three malignant tumors. We conclude that a possible genetic origin should always be suspected in individuals with early-onset neoplasms of the large bowel and probably of other organs such as the endometrium, small bowel, and urothelium, even when the initial pedigree does not show marked aggregation of cancers or vertical transmission. (C) 2000 by Am. Coll. of Gastroenterology.
UR - http://www.scopus.com/inward/record.url?scp=0033895717&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0033895717&partnerID=8YFLogxK
U2 - 10.1016/S0002-9270(00)00955-2
DO - 10.1016/S0002-9270(00)00955-2
M3 - Article
C2 - 10950068
AN - SCOPUS:0033895717
VL - 95
SP - 2110
EP - 2115
JO - American Journal of Gastroenterology
JF - American Journal of Gastroenterology
SN - 0002-9270
IS - 8
ER -