Genetic Testing

My surgeon asked in our first meeting if I would like to be tested for the breast cancer genes.  This isn't something that is automatically done since insurance does not always pay for it, and there is a risk that in the future genetics could be a factor in your insurance coverage or premiums.  I think knowing is quite important though so I chose to do it.  The results take about two weeks and I got mine today.  I had no family history of breast cancer, so I suspected it would come back negative, and it was a relief when it did.  If it had not, I may need to reconsider my treatment, such as doing a full mastectomy instead of partial.  It was also good to know it was something my three nieces wouldn't have to worry about.  New genes linked to breast cancer are periodically identified over time, but given today's knowledge it seems we're in the clear.

See https://www.breastcancer.org/genetic-testing for more information on breast cancer genetic testing.

Pathogenic Mutation(s): None Detected
Variant(s) of Unknown Significance: None Detected
Gross Deletion(s)/Duplication(s): None Detected

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SUMMARY

NEGATIVE: No Clinically Significant Variants Detected

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INTERPRETATION

• No pathogenic mutations, variants of unknown significance, or gross deletions or duplications were detected.

• Risk Estimate: low likelihood of variants in the genes analyzed contributing to this individual's clinical history.

• Genetic counseling is a recommended option for all individuals undergoing genetic testing.

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Genes Analyzed (77 total):

AIP, ALK, APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CEBPA, CHEK2, DICER1, ETV6, FH, FLCN, GATA2, LZTR1, MAX, MEN1, MET, MLH1, MSH2, MSH6, MUTYH, NF1, NF2, NTHL1, PALB2, PHOX2B, PMS2, POT1, PRKAR1A, PTCH1, PTEN, RAD51C, RAD51D, RB1, RET, RPS20, RUNX1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL, WT1 (sequencing and deletion/duplication); AXIN2, CTNN1A, DDX41, EGFR, HOXB13, KIT, MBD4, MITF, MSH3, PDGFRA, POLD1, POLE (sequencing only); EPCAM and GREM1 (deletion/duplication only).