Mutations in the p53 tumor suppressor gene are correlated with advanced breast cancer tumor staging, increased risk of metastasis, and poor five-year survival risk, as well as resistance to certain therapies.  Therefore, detection of a mutation in p53, is an indication to follow the most aggressive therapies available.  In about 5% of the high-risk breast cancer patient population, mutant p53 is incorporated into the familial germ line (LiFraumeni Syndrome). Finding the same p53 mutation in the blood, or some other tissue can identify individuals with germ line mutations.  Individuals with a germ line mutation are at a higher risk for bilateral breast tumors, and also at increased risk for tumors in other organs such as the brain, colon and ovaries. It is also possible to monitor the remission of individuals after therapy by monitoring for characteristic p53 mutations in the blood of the patient.

• Individuals who have a breast tumor under age of 47 or who have had two independent primary tumors in  order to identify those with p53 germ line mutations.

• Families with histories of breast cancer in order to identify those families with germ line mutations.

• Patients with early stage disease in order to identify aggressive tumors (those with p53  mutations).

• Patients with breast cancer in order to improve prognostic evaluation.

• PCR amplification of the p53 gene, exons 4-10, followed by DNA sequencing.

• Blood EDTA (purple top) tubes:  

            Newborn: minimum 1-2 mL          

            Child/Adult: prefer 2 tubes of 3-5 mL

• Basic pedigree detailing cancer history.

TURNAROUND TIME:     1 month

CPT CODES: