Genetic testing results

If you’re like my sister Nikki and friends like Dr. Chris Noakes (Ph.D. Not MD) that understand the language of genetic sequencing and gene mutations, that’s awesome! We need you in this world!

Anyway....The following genes were evaluated for sequence changes and exonic deletions/duplications:

ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, DICER1, EPCAM*, MLH1, MRE11, MSH2, MSH6, NBN, NF1, PALB2, PMS2, PTEN, RAD50, RAD51C, RAD51D, SMARCA4, STK11, TP53

Results for me...

A Variant of Uncertain Significance, c.283C>A (p.Gln95Lys), was identified in ATM.

• The ATM gene is associated with an increased risk for autosomal dominant breast, pancreatic and

prostate cancers (PMID: 15928302, 15942625, 16998505, 22585167, 26483394, 26662178, 27433846,

27324988, 27989354) and autosomal recessive ataxia-telangiectasia (A-T) (MedGen UID: 439).

• The clinical significance of this variant is uncertain at this time. Until this uncertainty can be resolved,

caution should be exercised before using this result to inform clinical management decisions.

• Family VUS testing is not recommended. Testing family members for this variant is unlikely to contribute sufficient evidence to allow variant reclassification at this time.

What does it all mean?

There are no dangerous gene mutations like BRCA. Mastectomy isn’t necessary. It is recommended that if I do not have a mastectomy, any remaining breast tissue should be treated according to high risk breast cancer guidelines - annual mammogram with a second MRI screening 6 months after until the ATM variant is clarified.

It’s another positive news received! Celebrating life!!