Three new mutations in hereditary nonpolyposis colorectal cancer (Lynch syndrome II) in Uruguay

Sarroca, Carlos; Peltomäki, Païvi; Alfano, Nora; Tedesco, Gladys; Valle, Adriana Della; Dominguez, Alejandra; Lynch, Henry T.

doi:10.1016/s0165-4608(02)00766-5

Cited by 9 publications

(4 citation statements)

References 53 publications

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“…4082) and were affected by the same mutation, as has been previously reported by us ( Fig. 2) (34,39). Both patients are undergoing a strict follow-up protocol and have presented no malignancies in more than 5 years.…”

Section: Resultssupporting

confidence: 72%

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

Sarroca¹,

Valle²,

Fresco³

et al. 2005

Clinical Genetics

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Few studies have investigated the frequency of hereditary non-polyposis colorectal cancer (HNPCC) in patients with colorectal cancer (CRC), and these have shown marked geographic variations. The aim of this study was to estimate the frequency of HNPCC in a cohort of Uruguayan CRC patients. We included all patients operated consecutively for CRC in the Hospital Central de las Fuerzas Armadas (Uruguay) between 1987 and 2003. Cases were classified into three groups: (i) those fulfilling Amsterdam criteria; (ii) those not fulfilling Amsterdam criteria but considered as a population at increased risk of cancer; and (iii) sporadic CRC. Genetic analysis to detect point mutations in hMLH/hMSH2/hMSH6 genes was performed in group 1 patients. Cases not showing mutations were tested by multiplex ligation-dependent probe amplification. Among 461 patients, group 1 represented 2.6%, group 2 represented 5.6%, and sporadic cases 91.8%. hMLH1/hMSH2/hMSH6 mutations were found in 25% of cases classified as HNPCC (two in hMLH1 and one in hMSH2). No mutations were detected in hMSH6 gene. The proportion of CRC patients that fulfilled Amsterdam criteria agrees with other reports. However, the percentage of HNPCC cases with identified mutations (25%) may be lower than that reported from other populations. This may reflect, among other possible causes, a different genetic profile in the Uruguayan population.

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Section: Resultssupporting

confidence: 72%

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

Sarroca¹,

Valle²,

Fresco³

et al. 2005

Clinical Genetics

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“…For that reason, it is highly unusual to trace back a recent ancestor out of Colombia for the vast majority of the families. None of our studied families has any recent European or non-European ancestors, which is similar to that observed in Brazil [20], but in contrast to NHPCC families from Uruguay [21]. Ethnic variations in both the prevalence of the HNPCC phenotype and carrier frequencies of germline MLH1 and MSH2 mutations in selected HNPCC families have been extensively described, mainly in Europe and in the USA [22][23][24][25][26].…”

Section: Discussionsupporting

confidence: 66%

MLH1 and MSH2 Mutations in Colombian Families with Hereditary Nonpolyposis Colorectal Cancer (Lynch syndrome) – Description of Four Novel Mutations

et al. 2005

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This study searched for mutations in the MLH1 and MSH2 genes in 23 unrelated Colombian families with suspected hereditary nonpolyposis colorectal cancer (HNPCC). The families were grouped according to the fulfillment of the Amsterdam II criteria or the Bethesda guidelines. We screened all probands by single-strand conformational polymorphism (SSCP) and direct DNA sequencing. Eleven families fulfilled the Amsterdam criteria II and 12 families the Bethesda guidelines. Germline mutations were detected in 11 families, which corresponds to a mutation detection rate of 48%. When only families fulfilling the Amsterdam II criteria were analyzed, the mutation detection rate rose to 82%. Only 8% of the mutation detection rate was found in families following the Bethesda guidelines. Three mutations were shared by two different families, which corresponds to a total of eight different mutations, seven of them found in the MLH1 gene and one in the MSH2 gene. We have identified four mutations that have not been previously reported to the International Collaborative Group of HNPCC. Three of these are pathogenic, a single base substitution (C > T) at codon 640, exon 17, a G deletion at codon 619, exon 16 and in the MLH1 gene and a two-nucleotide deletion (TG) at codon 184, exon 3 in the MSH2. Also, an unclassified variant, a substitution (C > G) at the codon 141, exon 5 of the MLH1, was detected.

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“…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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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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Three new mutations in hereditary nonpolyposis colorectal cancer (Lynch syndrome II) in Uruguay

Cited by 9 publications

References 53 publications

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

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

MLH1 and MSH2 Mutations in Colombian Families with Hereditary Nonpolyposis Colorectal Cancer (Lynch syndrome) – Description of Four Novel Mutations

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

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