Low prevalence of the APC I1307K sequence in Jewish and non-Jewish patients with inflammatory bowel disease

Yin, Jing; Harpaz, Noam; Souza, Rhonda F.; Zou, Tongtong; Kong, Dehe; Wang, Suna; Leytin, Anatoly; Medalie, Neil S.; Smolinski, Kara N.; Abraham, John M.; Fleisher, A. Steven; Meltzer, Stephen J.

doi:10.1038/sj.onc.1202638

Cited by 8 publications

(8 citation statements)

References 11 publications

(13 reference statements)

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“…Importantly, the detection of only two mutations (both found in Jewish individuals) in the study indicated the mutation prevalence rate among the Jewish patients to be only 1.5%, a rate much lower than that reported here and in other studies (~6%-7%). These discrepancies may reflect the method used in the study of Yin et al (1999) to determine the number of Jewish individuals in their population, a method that might easily have led to a misrepresentation of the actual number. By contrast, the data reported in the current study have probably provided a more accurate estimate of the prevalence of I1307K given the large sample size and the finding that prevalence rates in both the unaffected and IBD-affected individuals in this study are consistent with those observed in previous studies.…”

Section: Discussionmentioning

confidence: 88%

“…Taken together, these data indicate that APC I1307K, despite perhaps being relevant to the overall risk of CRC in these patients, does not appear to account for the increased risk of CRC in this IBD population. The frequency of the APC I1307K variant among IBD patients has only been evaluated in one other study (Yin et al 1999) in which the mutation was detected in only two of 267 evaluated IBD patients (0.7%). The investigated population included, however, both Jewish and non-Jewish individuals, and ethnicity was not ascertained for all individuals, but rather extrapolated from a random sample of 59 patients.…”

Section: Discussionmentioning

confidence: 96%

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Carrier rate of APC I1307K is not increased in inflammatory bowel disease patients of Ashkenazi Jewish origin

et al. 2001

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Colorectal cancer (CRC) occurs with an increased incidence in individuals with chronic inflammatory bowel disease (IBD) of the colon. Recent data suggest that a family history of colorectal cancer is an independent risk factor for CRC in IBD, an observation that implies that genetic factors are relevant to the development of CRC in this context. Among the genetic defects associated with CRC, the APC I1307K mutation has been detected nearly exclusively in individuals of Ashkenazi Jewish (AJ) origin, occurring in 6%-7% of the AJ general population and in 10%-28% of AJ with a either a personal or family history of CRC or adenomatous polyps. These findings, together with the increased incidence of IBD in AJ, prompted the current analysis of the contribution of the APC I1307K variant of CRC in AJ IBD patients. APC I1307K carrier frequencies were determined in 306 AJ individuals affected with IBD and 308 of their unaffected relatives ascertained from a family collection obtained for the identification of IBD susceptibility genes. Prevalence of the I1307K variant was not significantly different among individuals with IBD, Crohn's disease, ulcerative colitis, and unaffected relatives (6.9%, 7.6%, 4.7%, and 6.2%, respectively), and the mutation was detected in only one of five IBD-affected individuals with a diagnosis of CRC. These results reveal that IBD patients of AJ origin carry the APC I1307K variant at the same rate as individuals within the general AJ population. Lack of an increased APC I1307K carrier rate suggests that this mutation does not account for the increased CRC susceptibility associated with IBD.

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Section: Discussionmentioning

confidence: 88%

Section: Discussionmentioning

confidence: 96%

Carrier rate of APC I1307K is not increased in inflammatory bowel disease patients of Ashkenazi Jewish origin

et al. 2001

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“…The relatives of patients with uncomplicated IBD face no significantly increased risk of developing CRC [119, 120], but conversely, a family history of sporadic CRC confers a doubling of the already increased rates of CRC among patients with UC [86, 119]. Analogous findings have been reported in the cotton-top Tamarin model of UC [121, 122]. Concisely, the risk for development of colitis-associated neoplasia may be influenced by heritable factors; however, these are not necessarily the same ones that predispose to sporadic CRC.…”

Section: Colorectal Neoplasia In Ibdmentioning

confidence: 79%

Inflammatory bowel disease-associated colorectal cancer: proctocolectomy and mucosectomy do not necessarily eliminate pouch-related cancer incidences

M’Koma

Moses

Adunyah

2011

Int J Colorectal Dis

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Background Colorectal cancer (CRC), the most lethal long-term complication of inflammatory bowel disease (IBD), is the culmination of a complex sequence of molecular and histologic derangements of the colon epithelium that are initiated and at least partially sustained by prolonged chronic inflammation. Dysplasia, the earliest histologic manifestation of this process, plays an important role in cancer prevention by providing the first clinical alert that this sequence is under way and by serving as an endpoint in colonoscopic surveillance of patients at high risk for CRC. Restorative proctocolectomy (RPC) is indicated for patients with IBD, specifically for ulcerative colitis that is refractory to medical treatment, emergency conditions, and/or in case of neoplastic transformation. Even after RPC with mucosectomy, pouch-related carcinomas have recently been reported with increasing frequency since the first report in 1984. We review IBD-associated CRC and pouch-related neoplasia prevalence, adverse events, risk factors, and surveillances. Methods Literature of IBD-associated CRC patients and those undergoing RPC surgeries through 2010 were prospectively reviewed. Results We found 12 studies from retrospective series and 15 case reports. To date, there are 43 reported cases of pouch-related cancers. Thirty-two patients had cancer in the anal transit zone (ATZ); of these, 28 patients had mucosectomy. Eleven patients had cancer found in the pouch body. Conclusion RPC with mucosectomy does not necessarily eliminate risks. There is little evidence to support routine surveillance of pouch mucosa and the ATZ except for patients associated with histological type C changes, sclerosing cholangitis, and unremitting pouchitis.

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“…Another group [6] attempted to link the increased risk of colorectal cancer in IBD with the increased prevalence of IBD in Ashkenazi Jews through the presence of a germline mutation overexpressed in members of this population with sporadic colorectal cancer. One flaw in this hypothesis is that there have been no data suggesting that the increased risk of colorectal cancer in IBD is more specific to the Jewish population with IBD.…”

Section: Neoplasiamentioning

confidence: 98%

Neoplastic and other complications of inflammatory bowel disease

Bernstein

2000

Curr Gastroenterol Rep

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Patients with inflammatory bowel disease (IBD) have long been known to be at increased risk of development of colorectal cancer; however, there are many nuances to cancer prevention strategies in IBD that remain unresolved. During the past year, two publications reported on the resection of otherwise typical adenoma-like masses by means of polypectomy, after which these patients were followed with continued endoscopic surveillance, rather than pursuing colectomy. Another concern in IBD is whether there is an increase in the number of other cancers, in particular lymphomas. One issue regarding lymphoma risk is whether immunomodulatory drug use predisposes to this cancer. One study of a large group of 6-mercaptopurine users did not suggest an increased risk for patients with IBD using this drug. There are a variety of nonintestinal problems that patients with IBD may confront. Osteopenia has received considerable attention in the past decade. This year, data have been published that quantify for the first time the risk of fractures in patients with IBD based on population, and these data were compared with a matched control group from the same population. Data on the further exploration of the issue of osteopenia in pediatric IBD have also been reported, as have some of the only studies of therapy for osteopenia in IBD. These and data on other extraintestinal manifestations of IBD have all emerged in the past year.

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Low prevalence of the APC I1307K sequence in Jewish and non-Jewish patients with inflammatory bowel disease

Cited by 8 publications

References 11 publications

Carrier rate of APC I1307K is not increased in inflammatory bowel disease patients of Ashkenazi Jewish origin

Carrier rate of APC I1307K is not increased in inflammatory bowel disease patients of Ashkenazi Jewish origin

Inflammatory bowel disease-associated colorectal cancer: proctocolectomy and mucosectomy do not necessarily eliminate pouch-related cancer incidences

Neoplastic and other complications of inflammatory bowel disease

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