ContextAbout 2% of all colorectal cancer occurs in the context of the autosomal dominantly
inherited Lynch syndrome, which is due to mutations in mismatch repair genes. Potential risk …

Objectives: To develop evidence-based guideline recommendations through a systematic
review of the literature to establish standard molecular biomarker testing of colorectal cancer …

BACKGROUND & AIMS: Heritable factors contribute to the development of colorectal
cancer. Identifying the genetic loci associated with colorectal tumor formation could …

Hereditary nonpolyposis colorectal cancer (HNPCC), also known as Lynch syndrome, is a
common autosomal dominant syndrome characterized by early age at onset, neoplastic …

Purpose: To compare microsatellite instability (MSI) testing with immunohistochemical (IHC)
detection of hMLH1 and hMSH2 in colorectal cancer. Patients and Methods: Colorectal …

Background: Previously, small studies have found that BRCA1 and BRCA2 breast tumors
differ in their pathology. Analysis of larger datasets of mutation carriers should allow further …

ContextApproximately 60% of families that meet the Amsterdam-I criteria (AC-I) for
hereditary nonpolyposis colorectal cancer (HNPCC) have a hereditary abnormality in a DNA …

Rothmund-Thomson syndrome (RTS; also known as poikiloderma congenitale) is a rare,
autosomal recessive genetic disorder characterized by abnormalities in skin and skeleton …

Background & Aims: Although the clinical phenotype of Lynch syndrome (also known as
hereditary nonpolyposis colorectal cancer) has been well described, little is known about …

Importance E-cadherin (CDH1) is a cancer predisposition gene mutated in families meeting
clinically defined hereditary diffuse gastric cancer (HDGC). Reliable estimates of cancer risk …