Mammogram

Mammogram

I had my annual mammogram today.  I am 50 and have been getting my mammogram almost every year since turning 40.  I had one almost exactly o...

Showing posts with label genetic testing. Show all posts
Showing posts with label genetic testing. Show all posts

Sunday, October 5, 2025

Anyone Can Get Breast Cancer

This post is just a reminder that anyone, regardless of age or gender, can get breast cancer.  While risk increases with age, more and more younger women are getting breast cancer globally.  It is also possible for men to get breast cancer too.  Those who do not get regularly screened for breast cancer should consider doing the following:

  • Familiarize yourself with how your breasts normally look and feel.  Perform self-exams to look for any changes such as new lumps, nipple discharge, or changes in skin texture or shape.
  • See a doctor if you notice any concerning changes and advocate for yourself if the doctor won't order a mammogram because you are too young.  Seek a second opinion if necessary.
  • Be aware of breast cancer risk factors:
    • Increases with age
    • Family history
    • Dense breast tissue (harder to see on mammograms)
    • Early menstruation (<12) and late menopause (55+)
    • Having certain genetic mutations such as BRCA1 and BRCA2
    • Physical inactivity and obesity
    • Alcohol consumption and smoking
    • Using HRT after menopause
    • Exposure to radiation and chemicals
    • Having no children or children later in life 
Having risk factors does not mean you will get cancer though, and conversely, having no risk factors does not mean you will not get cancer. The exact cause of breast cancer is not known.  Anyone can get breast cancer.



Wednesday, June 18, 2025

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


SUMMARY

NEGATIVE: No Clinically Significant Variants Detected


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.


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).