Frequency of hereditary non-polyposis colorectal cancer among Uruguayan patients with colorectal cancer

Sarroca, Carlos; Valle, Adriana Della; Fresco, R; Renkonen, Elise; Peltomäki, Païvi; Ht, Lynch

doi:10.1111/j.1399-0004.2005.00458.x

Cited by 15 publications

(15 citation statements)

References 39 publications

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“…The proportion of identified mutations (45.4 percent) is similar to that reported by Rossi et al 8 from Brazil but higher than that reported by Sarroca et al 12 from Uruguay (2/12, 16.6 percent), who speculate that a different genetic profile may exist in the Uruguayan population.…”

Section: Discussionsupporting

confidence: 83%

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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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Section: Discussionsupporting

confidence: 83%

“…Although molecular and epidemiologic data from North America, Europe, and Asia are widely available in the literature, 7 limited data are available from South America. [8][9][10][11][12] Furthermore, no data on CRC from an Argentine register are available in the MEDLINE index literature.…”

mentioning

confidence: 99%

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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“…In a review published by Dominguez-Valentín et al, the LS mutation spectrum in South American countries was described [62]. Pathogenic mutations in the MMR genes were identified in patients from Brazil [53], Argentina [63], Uruguay [64], and Colombia [65] (Table 3). Furthermore, the InSIGHT database contains additional information on MMR mutations in additional Hispanic subpopulations, Portugal, and Spain [53].…”

Section: Introductionmentioning

confidence: 99%

Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines

Cruz‐Correa

Pérez-Mayoral

Dutil

et al. 2017

Hered Cancer Clin Pract

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Hereditary cancer predisposition syndromes comprise approximately 10% of diagnosed cancers; however, familial forms are believed to account for up to 30% of some cancers. In Hispanics, the most commonly diagnosed hereditary cancers include colorectal cancer syndromes such as, Lynch Syndrome, Familial Adenomatous Polyposis, and hereditary breast and ovarian cancer syndromes. Although the incidence of hereditary cancers is low, patients diagnosed with hereditary cancer syndromes are at high-risk for developing secondary cancers. Furthermore, the productivity loss that occurs after cancer diagnosis in these high-risk patients has a negative socio-economic impact. This review summarizes the genetic basis, phenotype characteristics, and the National Comprehensive Cancer Network’s screening, testing, and surveillance guidelines for the leading hereditary cancer syndromes. The aim of this review is to promote a better understanding of cancer genetics and genetic testing in Hispanic patients.

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“…One of the most significant risk factors for CRC is family history [2, 3]. Lynch syndrome, often called hereditary non-polyposis CRC (HNPCC), is the most common hereditary colon cancer syndrome and is responsible for approximately 1-3% of cases of CRCs [4][5][6][7][8][9][10][11][12][13][14]. However, in Newfoundland up to 47% of CRC patients come from high-risk and intermediate-risk families [15].…”

Section: Introductionmentioning

confidence: 99%

The phenotypic expression of three MSH2 mutations in large Newfoundland families with Lynch syndrome

et al. 2006

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To compare the phenotypic expression of three different MSH2 mutations causing Lynch syndrome, 290 family members at 50% risk of inheriting a mutation were studied. Two truncating mutations of the MSH2 gene have been identified in Newfoundland: an exon 8 deletion in five families (N=74 carriers) and an exon 4-16 deletion in one family (N=65 carriers). The third mutation was an intron 5 splice site mutation resulting in deletion of exon 5 in RNA and occurred in 12 families (N=151 carriers). Age to onset of first cancer, first colorectal cancer (CRC), first extracolonic cancers and death were compared. By age 60, 89% of family members with the intron 5 mutation, 81% with the exon 8 deletion, and 85% with the exon 4-16 deletion had developed cancer. For all three mutations males had a higher age-related risk of CRC and death compared to females. In the intron 5 splice site mutation carriers, the number of transitional cell cancers of the urinary tract was significantly lower and time to first ovarian cancer was significantly higher than in the carriers of the genomic deletions. The incidence of CRC in MSH2 mutation carriers, exposed to the same environment, is not modified by the specific mutation, although there is a suggestion that type of mutation may influence development of some extracolonic cancers.

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Frequency of hereditary non-polyposis colorectal cancer among Uruguayan patients with colorectal cancer

Cited by 15 publications

References 39 publications

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

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

Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines

The phenotypic expression of three MSH2 mutations in large Newfoundland families with Lynch syndrome

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