Inherited Colorectal Cancer Registries in the United States

Church, James M.; Kiringoda, Ruwan; LaGuardia, Lisa

doi:10.1007/s10350-003-0115-5

Cited by 32 publications

(20 citation statements)

References 16 publications

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“…2,3 The development of many Polyposis Registries around the world helped to spread the importance of screening, prophylactic colectomy, and surveillance strategy translating into better prognosis. 6 This fact is clearly reflected in the CRC incidence reported in countries with regular surveillance, where figures of 50-70% and 3-10% are, respectively, found among symptomatic probands and screened patients. 14,15 Furthermore, survival advantages have been registered, with death occurring in 10 of the 120 call-up patients (8.3%) and 58 of the 116 probands (50%).…”

Section: Discussionmentioning

confidence: 87%

“…Cuthbert Dukes and J.P. Lockhart-Mummery through the foundation of the first Polyposis Registry in St. Mark's Hospital in 1924, 4 many Polyposis Registries have been established in many countries, leading to a decrease in CRC prevalence and improved life expectancy. 5,6 Since the classical papers from Gardner 7 and Crail 8 describing Gardner and Turcot syndromes, much knowledge has been accumulated regarding the importance of extracolonic manifestations (ECM) of the disease. Today, it is well recognized that FAP is a complex systemic disorder that may affect tissues from ectodermal, endodermal, and mesodermal germ layers.…”

Section: Introductionmentioning

confidence: 99%

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Evaluating Causes of Death in Familial Adenomatous Polyposis

Campos

Perez

Imperiale

et al. 2010

Journal of Gastrointestinal Surgery

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(1) CRC is still the most prevalent cause of death; (2) even after curative resections, CRC can cause death through rectal or pouch malignization; (3) long-term survival was also strongly related to the development of extracolonic neoplasia, especially desmoid tumors and gastroduodenal carcinoma; (4) our results raise the need for local improvement in familiar screening and help us to define follow-up strategies and patient-information standards.

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Section: Discussionmentioning

confidence: 87%

Section: Introductionmentioning

confidence: 99%

Evaluating Causes of Death in Familial Adenomatous Polyposis

Campos

Perez

Imperiale

et al. 2010

Journal of Gastrointestinal Surgery

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“…Services include medical evaluation, risk assessment, and genetic counseling. A recent survey by Church et al 18 found 18 registries in the United States. To our knowledge, just six registries are operational in South America (2 in Argentina, 2 in Brazil, 1 in Uruguay, and 1 in Chile).…”

Section: Discussionmentioning

confidence: 98%

Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome) in Argentina: Report from a Referral Hospital Register

Vaccaro

Bonadeo

Roverano

et al. 2007

Diseases of the Colon &Amp; Rectum

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PURPOSE: The first Argentine experience with epidemiologic, molecular, and genetic counseling data is reported. METHODS: We analyzed 43 families fulfilling Amsterdam criteria identified from a prospective database with data from 779 relatives. RESULTS: Eleven families (25.6 percent) presented as Lynch I, 29 (67.4 percent) as Lynch II, and 3 (7 percent) as Muir-Torre syndrome. Among the 306 affected members, 197 cases of colorectal cancer were identified (mean age at diagnosis, 52.1 (range, 21-90) years). The most frequent extracolonic tumors were gastric adenocarcinoma in males and endometrium adenocarcinoma in females. A high incidence of breast cancer was observed (16 cases among 155 females, crude rate: 11,594.20/100,000). Twenty-seven patients (8.8 percent) developed more than one tumor. These patients were younger than those with only one tumor (45 vs. 51 years; P=0.001). In 5 of 11 patients who underwent molecular sequencing, a pathologic mutation was found. A novel C deletion at 1910 nucleotide, codon 637, exon 12 of MSH2 gene was identified in a family with a strong aggregation of breast cancer with lack of MSH2 immunohistochemical staining. For 78.2 percent of counseled individuals, this session represented the first time they received information, and 73.9 percent stated that their physicians were unaware of their family background. CONCLUSIONS: Argentine families presented a high incidence of stomach cancer. The elevated incidence of breast cancer and its association with a novel hMSH2 mutation bring to consideration the inclusion of this malignancy as part of the syndrome. A lack of awareness by both physicians and persons at risk was observed. [

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“…In those with two or more relatives with CRC, a threefold increased risk exists, and among those with a relative with early onset CRC, the risk of developing CRC is even higher [3][4][5][6]. The known familial cancer syndromes are hereditary nonpolyposis colorectal cancer (HNPCC; also called Lynch syndrome), seen in 1-3% of patients with CRC [2,7,8] familial adenomatous polyposis coli (FAP) seen in less than 0.1% [9,10] and, the very rare juvenile polyposis and PeutzJehger's syndromes [11]. Depending on the penetrance of the gene carrier, patients with these syndromes will develop CRC at a young age.…”

Section: Introductionmentioning

confidence: 99%

The correlation between a family history of colorectal cancer and survival of patients with colorectal cancer

et al. 2009

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The purpose was to analyze survival of patients with colorectal cancer and a positive family history for colorectal cancer in first degree relatives compared with those with no such family history and to determine whether differences in survival could be explained by known clinico-pathological factors. During 2000-2003, 318 consecutive patients with colorectal cancer answered a written questionnaire about their family history for colorectal cancer. During a 6-year follow-up, recurrences and survival were registered. Thirty-one (10%) patients had a first-degree relative with colorectal cancer, moreover two patients fulfilled the criteria of hereditary non-polyposis colorectal cancer and were excluded. Patients with a first-degree relative with colorectal cancer had better survival and lower risk for recurrences compared to those with no relatives with colorectal cancer. In a multivariate analysis including age, gender, stage of disease, tumor differentiation, vascular invasion and family history, patients with first-degree relatives with colorectal cancer had lower risks for death (RR 0.37; 95% CI 0.17-0.78) and death from cancer (RR 0.25; 95% CI 0.08-0.80), compared to those with a no relative with colorectal cancer. The differences were seen in patients with colon cancer but not rectal cancer. Family history for colorectal cancer in a first-degree relative is an individual prognostic factor in patients with colon cancer and could not be explained by known clinico-pathological factors. The value of family history taking in patients with colon cancer is therefore not only to identify families with hereditary colorectal cancer, but also to add information to the prognosis of the patients.

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Inherited Colorectal Cancer Registries in the United States

Abstract: The United States is underserved by registries for inherited colorectal cancer, having enrolled only a small proportion of the families theoretically available. Registries differ in fundamental aspects of function. More collaboration and more registries are needed.

Cited by 32 publications

References 16 publications

Evaluating Causes of Death in Familial Adenomatous Polyposis

Evaluating Causes of Death in Familial Adenomatous Polyposis

Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome) in Argentina: Report from a Referral Hospital Register

The correlation between a family history of colorectal cancer and survival of patients with colorectal cancer

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