Trait Document

Result Report

Name: Flash Gordon	Sex: Unknown	CLIA-certified lab: n/a
Date of Birth: 01/01/2010	Age: 40 Years	Ancestry: n/a
Specimen type: n/a	Accession number: n/a	MRN: n/a
Date collected: n/a	Date received: n/a	Date resulted: n/a

Ordering provider: n/a

Clinical history: n/a

Family history: n/a

Trait: MUTYH-Associated Polyposis

Trait Category: Genetic Syndromes, Carrier Status, Disease Risk

Trait Subcategory: Disease Risk:Cancer

Priority

Test Indication: n/a

Test Performed: n/a

Performing laboratory: n/a

Interpretation:

Guidance

This result should be interpreted in the context of clinical and family history information.
mutyh-associated polyposis is a genetic condition characterized by the development of tens to hundreds of colon polyps. With appropriate management and surveillance, cancers can be prevented or detected at earlier stages, when there is a greater chance for successful treatment. Carriers of a variant for MUTYH-associated polyposis may have an increased chance of developing colorectal cancer, however the data are unclear.
This person should consider sharing this CLIA-validated test result with family members, as it may have important health implications for relatives.
Genetic counseling is recommended for this person to help understand this test result, the associated health implications, management options, and health implications for family members.
A genetic counselor is available by email (my46info@uw.edu; my46gc@uw.edu) to assist in interpreting this result.
This person has been notified of their result and given a consumer-friendly version of this report.

Supplemental Information

Clinical/epidemiologic-characteristics:

MUTYH-associated polyposis is a genetic condition characterized by the development of tens to hundreds of colon polyps. With appropriate management and surveillance, cancers can be prevented or detected at earlier stages, when there is a greater chance for successful treatment.

Genetic characteristics:

MUTYH-associated polyposis is inherited in an autosomal recessive pattern. If both parents are carriers of a variant for MUTYH-associated polyposis, they have a 1 in 4 (25%) chance with each pregnancy of having a child with MUTYH-associated polyposis.

Population prevalence:

MUTYH-associated polyposis affects an estimated 1 in 20,000 to 1 in 40,000 individuals.

Test method:

The exome represents the ~1% of a person’s genome that contains ~20,000 genes that make protein. Exome sequencing (ES) is a method in which the DNA of all of these genes is sequenced. Sanger sequencing is a method used to sequence the DNA of one or a few genes.

Test method limitations:

There are regions of the genome that cannot be reliably sequenced by ES. This is due to many factors including highly repetitive regions, areas of the genome that are highly GC-rich, and the presence of closely related pseudogenes. With ES, ~10% of the targeted exome may not be adequately covered to make reliable variant calls. ES is not intended to analyze the following types of variants: large deletions/duplications or rearrangements, deep intronic variants, long repeat sequences including trinucleotide repeats, variants located in regulatory regions, and mitochondrial genome variants. Sanger sequencing of the protein-coding exons and ~50-100 bases of the flanking non-coding sequences of a gene are not intended to analyze the following types of variants: large deletions/duplications or rearrangements, single exon deletions or duplications, some intronic variants, and variants located in regulatory regions. Sanger sequencing or ES may not determine chromosomal phase of the identified variants. Other sources of error include, but are not limited to, sample misidentification and sample contamination.

Information resources for clinicians:

Brand R, Nielsen M, Lynch H, Infante E. (Updated 4 October 2012). MUTYH-Associated Polyposis. In: GeneReviews at GeneTests Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2013. Available at http://www.ncbi.nlm.nih.gov/books/NBK107219/. Accessed [06/30/2013].

National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: Colorectal Cancer Screening. Version 1.2013. (Available online with registration).

General Disclaimer:

This report is not intended to take the place of expert medical recommendations by a professional care provider. The interpretation provided is based on our current understanding of genes and variants at the time of reporting. While every effort has been made to include up-to-date guidance, this information changes frequently.