Abstract
Bloom's syndrome (BS) is a rare recessive disorder caused by germline mutation of the BLM gene. Individuals with BS manifest growth retardation, immunodeficiency, and a predisposition to cancer. In this report, we describe an individual with BS and multiple colonic adenomas reminiscent of familial adenomatous polyposis coli (FAP). Molecular studies revealed APC mutations in 4 of 6 adenomas, including 2 adenomas with the identical APC mutation and microsatellite instability in I of 6 adenomas. These results demonstrate similar pathways to colorectal neoplasia in BS as in the normal population and suggest that individuals with BS may be particularly susceptible to colorectal neoplasia.
| Original language | English |
|---|---|
| Pages (from-to) | 435-439 |
| Number of pages | 5 |
| Journal | Gastroenterology |
| Volume | 121 |
| Issue number | 2 |
| Publication status | Published - 2001 |
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ASJC Scopus subject areas
- Gastroenterology
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Numerous colonic adenomas in an individual with Bloom's syndrome. / Lowy, Andrew M.; Kordich, Jennifer J.; Gismondi, Viviana; Varesco, Liliana; Blough, Ruthann I.; Groden, Joanna.
In: Gastroenterology, Vol. 121, No. 2, 2001, p. 435-439.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Numerous colonic adenomas in an individual with Bloom's syndrome
AU - Lowy, Andrew M.
AU - Kordich, Jennifer J.
AU - Gismondi, Viviana
AU - Varesco, Liliana
AU - Blough, Ruthann I.
AU - Groden, Joanna
PY - 2001
Y1 - 2001
N2 - Bloom's syndrome (BS) is a rare recessive disorder caused by germline mutation of the BLM gene. Individuals with BS manifest growth retardation, immunodeficiency, and a predisposition to cancer. In this report, we describe an individual with BS and multiple colonic adenomas reminiscent of familial adenomatous polyposis coli (FAP). Molecular studies revealed APC mutations in 4 of 6 adenomas, including 2 adenomas with the identical APC mutation and microsatellite instability in I of 6 adenomas. These results demonstrate similar pathways to colorectal neoplasia in BS as in the normal population and suggest that individuals with BS may be particularly susceptible to colorectal neoplasia.
AB - Bloom's syndrome (BS) is a rare recessive disorder caused by germline mutation of the BLM gene. Individuals with BS manifest growth retardation, immunodeficiency, and a predisposition to cancer. In this report, we describe an individual with BS and multiple colonic adenomas reminiscent of familial adenomatous polyposis coli (FAP). Molecular studies revealed APC mutations in 4 of 6 adenomas, including 2 adenomas with the identical APC mutation and microsatellite instability in I of 6 adenomas. These results demonstrate similar pathways to colorectal neoplasia in BS as in the normal population and suggest that individuals with BS may be particularly susceptible to colorectal neoplasia.
UR - http://www.scopus.com/inward/record.url?scp=0034903797&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0034903797&partnerID=8YFLogxK
M3 - Article
VL - 121
SP - 435
EP - 439
JO - Gastroenterology
JF - Gastroenterology
SN - 0016-5085
IS - 2
ER -