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. Author manuscript; available in PMC: 2020 Dec 1.
Published in final edited form as: J Genet Couns. 2019 Jul 17;28(6):1208–1213. doi: 10.1002/jgc4.1155

Table 1.

Cancer Related Variants Returned to Participants

Finding Participant Information
Gene Variant Interpretation Cancer Diagnosis Sex Previous Genetic Testing Reason for denial
BRCA2 p.Glu1285fs Pathogenic Gastric cancer diagnosed age 36 Female None E/I
BRIP1 p.Arg798* Pathogenic Ovarian cancer age 63 Female None E/I
HOXB13 p.Gly84Glu Pathogenic Two primary breast cancers diagnosed age 34 Female BRCA1/2; sequencing and del/dup NMC
PALB2 p.Thr799fs Pathogenic Breast cancer age 54 Female None E/I
CHEK2 p.Thr410fs Pathogenic, low penetrance Breast cancer diagnosed age 49 Female None NMC
ATM p.Cys977Tyr VUS Breast cancer age 54 Female None E/I
BARD1 p.Arg751Trp VUS Breast cancer age 51 Female BRCA1/2; sequencing and del/dup NMC
BMPR1A p.Glu468Lys VUS Colon cancer diagnosed age 48 Female None Unknown

VUS = variant of uncertain significance; E/I = experimental/investigational; NMC = patient did not meet medical criteria