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World J Gastroenterol. 2011 Feb 14;17(6):766-73. doi: 10.3748/wjg.v17.i6.766.

Identification of patients at-risk for Lynch syndrome in a hospital-based colorectal surgery clinic.

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  • 1Genomic Medicine Laboratory, Experimental Research Center, Hospital de ClĂ­nicas de Porto Alegre, Porto Alegre - RS, 90035-903, Brazil.

Abstract

AIM:

To determine the prevalence of a family history suggestive of Lynch syndrome (LS) among patients with colorectal cancer (CRC) followed in a coloproctology outpatient clinic in Southern Brazil.

METHODS:

A consecutive sample of patients with CRC were interviewed regarding personal and family histories of cancer. Clinical data and pathology features of the tumor were obtained from chart review.

RESULTS:

Of the 212 CRC patients recruited, 61 (29%) reported a family history of CRC, 45 (21.2%) were diagnosed under age 50 years and 11 (5.2%) had more than one primary CRC. Family histories consistent with Amsterdam and revised Bethesda criteria for LS were identified in 22 (10.4%) and 100 (47.2%) patients, respectively. Twenty percent of the colorectal tumors had features of the high microsatellite instability phenotype, which was associated with younger age at CRC diagnosis and with Bethesda criteria (P < 0.001). Only 5.3% of the patients above age 50 years had been previously submitted for CRC screening and only 4% of patients with suspected LS were referred for genetic risk assessment.

CONCLUSION:

A significant proportion of patients with CRC were at high risk for LS. Education and training of health care professionals are essential to ensure proper management.

KEYWORDS:

Colorectal cancer; Family history; Hereditary cancer; Lynch syndrome; Microsatellite instability phenotype

PMID:
21390147
[PubMed - indexed for MEDLINE]
PMCID:
PMC3042655
Free PMC Article
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