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. Author manuscript; available in PMC: 2020 May 26.
Published in final edited form as: J Genet Couns. 2017 Mar 29;26(5):1116–1129. doi: 10.1007/s10897-017-0090-y

Table 2.

Classification of pathogenic/likely pathogenic variants and VUS results by risk profile

Pathogenic n=25 (%) VUS n=40 (%)*
High risk APC 1 (4)
BRCA1 9 (36) 3 (7.5)
BRCA2 10 (40) 6 (15)
CDH1 2 (5)
CDKN2A 1 (2.5)
MLH1 1 (2.5)
MSH2 1 (2.5)
MSH6 3 (7.5)
MUTYH 3 (12) 1 (2.5)
PMS2 3 (7.5)
PTEN 3 (7.5)
STK11 1 (2.5)
TP53 1 (4)
Moderate risk ATM 8 (20)
CHEK2 1 (2.5)
NF1 1 (2.5)
PALB2 1 (4) 2 (5)
Newer genes RAD50 2 (5)
RAD51 1 (2.5)
*

Thirty-four study participants had VUS results, however five participants had more than one VUS detected.