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Pancreatic Cancer PALB2

 

Pancreatic cancer refers to a malignant neoplasm originating from transformed cells arising in tissues that form the pancreas. The most common type of pancreatic cancer, accounting for 95% of these tumors, is adenocarcinoma arising within the exocrine component of the pancreas. A minority arise from islet cells, and are classified as neuroendocrine tumors. The symptoms that lead to diagnosis depend on the location, the size, and the tissue type of the tumor.

The PALB2 gene contains the information to make the PALB2 protein. This protein works together with the BRCA2 protein to repair damaged DNA. The PALB2 protein is believed to stabilize the BRCA2 protein, allowing the BRCA2 protein to repair damaged DNA. It was recently discovered that 3-5% of patients with familial pancreatic cancer have inherited mutations in the PALB2 gene.

Purpose: Confirmation of Clinical Diagnosis/Carrier Testing

Methodology: Sequencing of entire coding region

Test Requisition: Sequencing Requisition

Specimen Requirements: 2-5 mL Blood- Lavender Top Tube

CPT Code: 81406 Cost: $540.00

Turn-around-time: 5 weeks

Shipping Information

References

1. Alter BP, Kupfer G. 2013. Fanconi Anemia. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, and Stephens K, editors. GeneReviews™, Seattle (WA): University of Washington, Seattle. PubMed ID: 20301575

2. Antoniou AC, Gayther SA, Stratton JF, Ponder BA, Easton DF. 2000. Risk models for familial ovarian and breast cancer. Genet. Epidemiol. 18: 173–190. PubMed ID: 10642429

3. Axilbund JE, Wiley EA. 2012. Genetic Testing by Cancer Site: Pancreas. The Cancer Journal 18: 350–354. PubMed ID: 22846737

4. Bartsch DK, Gress TM, Langer P. 2012. Familial pancreatic cancer—current knowledge. Nature Reviews Gastroenterology & Hepatology 9: 445–453. PubMed ID: 22664588

5. Beroud C, Soussi T. 1996. APC gene: database of germline and somatic mutations in human tumors and cell lines. Nucleic acids research 24: 121-124. PubMed ID: 8594558

6. Berwick M. 2006. The Prevalence of CDKN2A Germ-Line Mutations and Relative Risk for Cutaneous Malignant Melanoma: An International Population-Based Study. Cancer Epidemiology Biomarkers & Prevention 15: 1520–1525. PubMed ID: 16896043

7. Caspari R, Friedl W, Mandl M, Propping P, Möslein G, Kadmon M, Timmermanns G, Knapp M, Jacobasch KH, Ecker KW. 1994. Familial adenomatous polyposis: mutation at codon 1309 and early onset of colon cancer. The Lancet 343: 629–632. PubMed ID: 7906810


 

 

 


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Genetics Laboratory
University of Oklahoma Health Sciences Center
1122 NE 13 Street, Suite 1400, Oklahoma City, OK 73104
Phone: (405) 271-3589 |Fax: (405) 271-7117 Email: Dr. Shibo Li

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