Genetic Testing

BREVAgen – pro

BREVAGen evaluates 7 breast cancer-associated SNPs identified in genome-wide association studies (GWAS). Risk is calculated by multiplying the product of the individual SNP risks by the Gail model risk. BREVAGen has been evaluated for use in Caucasian women of European descent age 35 years and older. According to the BREVAGen website, “suitable candidates” for testing include women with a Gail lifetime risk of 15% or greater; with high lifetime

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Personal history of breast cancer and BRCA – pro

Lay Summary: Personal history of breast cancer at young age is an indication for BRCA testing. Personal history of breast cancer at young age is an indication for BRCA testing. The literature variably sets the age of what is considered early at before age 50 or 40. NCCN guidelines were revised to include the following changes from 2008 version(NCCN 2011): •Changed age of diagnosis of personal history of breast cancer from 40 years or less to 45

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BART and BRCA Testing – pro

Lay Summary: BART testing is a new twist on BRCA testing.   BART stands for BRACAnalysis Rearrangement Test, which detects large DNA rearrangements in the BRCA1 and BRCA2 genes, which the pcr for BRCA does not detect. Myriad's postion is that BART testing is appropriate for women who have had full sequence analysis for BRCA 1/2, have tested negative and are at very high baseline risk. Myriad quotes the following statistics: when baseline risk

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Screening for hereditary pancreatic cancer – pro

The U.S. Preventive Services Task Force (USPSTF) recommends against routine screening for pancreatic cancer in asymptomatic adults using abdominal palpation, ultrasonography, or serologic markers. The USPSTF found no evidence that screening for pancreatic cancer is effective in reducing mortality. There is a potential for significant harm due to the very low prevalence of pancreatic cancer, limited accuracy of available screening tests, the invasive

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P53 in breast cancer – pro

Whereas BRCA testing is well estblished, p53 testing as a single factor is not. P53 is a tumor suppressor gene. Normally, the p53 protein, coded for by the p53 gene stops cells with DNA damage from multiplying until the DNA is repaired naturally or sends the defective cell into programmed cell death. When the p53 gene becomes damaged or mutated, the protein becomes nonfunctional and loses its checkpoint control, allowing cancerous cells to replicate

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CHEK2, P53, PTEN for breast cancer genetic testing – pro

Despite a negative (normal) genetic test for mutations in the BRCA1 and BRCA2 genes, about 12 percent of breast cancer patients from high-risk families carried previously undetected cancer-associated mutations. Risks for young women with inherited BRCA1 or BRCA2 mutations are particularly increased. Among white women in the U.S., 5 percent to 10 percent of breast cancer cases are due to inherited mutations in BRCA1 and BRCA2. Inherited mutations

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CYP2D6 test, tamoxifen and breast cancer – pro

Tamoxifen is transformed to the anti-estrogen, endoxifen, by the cytochrome P450 (CYP) 2D6 enzyme. CYP2D6 genetic variation markedly reduce endoxifen plasma concentrations in tamoxifen-treated patients. CYP2D6 metabolism is an independent predictor of breast cancer outcome in post-menopausal women receiving tamoxifen for early breast cancer in some studies. Determination of CYP2D6 genotype may be of value in selecting adjuvant hormonal therapy and

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DPD deficiency and testing – pro

Although an older drug, fluoropyrimidines continue to be an integral component of chemotherapy for a number of cancers, including such common ones as breast and colon cancer. Our knowledge about the complex metabolism of fluoropyrimidines has increased exponentially and we now know that a small percentage of patients do not clear them well and are subjected to severe toxicity. Current research suggests that nearly 8% of the population has at least

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BRCA testing in males – pro

BRCA is best studied inthe setting of familial breast-ovarian cancer susceptibility. Reported risks for breast, prostate, pancreatic, gastric and hematologic cancers are higher in male BRCA mutation carriers vs non-carriers. Especially in male BRCA2 mutation carriers under age 65 prostate and pancreatic cancer risks are increased. The risk increase for primary cancers of organs like the liver, bone and brain is difficult to assess as these organs

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BRCA and screening for pancreatic cancer – pro

Certain germline mutations are known to give rise to hereditary pancreatic cancer syndromes including BRCA2,  p16,STK11/LKB1,and PRSS1. There are several other conditions that incrase the risk of pancreatic cacner but this post will focus on BRCA. BRCA2 is a key regulator of gene transcription. Mutation in this gene results in hereditary breast and ovarian cancer syndromes. Over the last 10 years it has been noted that some families with BRCA2 mutations

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