penetrant gene

pen·e·trant gene

(pĕn′ĭ-trənt)
n.
A gene that causes a trait in a specified genotype to be expressed.
References in periodicals archive ?
In contrast to highly penetrant HBOC (BRCA1/2) and LS associated mutations, positive test results for a less penetrant gene may not actually raise the likelihood of cancer significantly over the patient's calculated familial risk, but the potential for increased surveillance and intervention for multiple related syndromic cancers may be of significant value to both the patient and her family.
(5) Highly penetrant genetic mutations in TP53 (Li-Fraumeni syndrome), PTEN (Cowden syndrome), CDH1 (Hereditary Diffuse Gastric Cancer syndrome), and STK11 (Peutz Jeghers syndrome) have long been recognized as possible causes of hereditary breast cancer, and now panel testing includes these along with moderately penetrant genes such as checkpoint kinase 2 (CHEK2), ATM serine/ thereonine kinase (ATM), and partner and localizer of BRCA2 (PALB2).
"We may need to adapt our system of gene discovery in order to capture these fewer penetrant genes," said Kaplanis.
Should we be recommending a high-risk protocol to our patients who test positive for the seemingly less penetrant genes? If so, at what age do we begin?
It is estimated that 3-5% of all breast cancers can be attributed to mutations in these highly penetrant genes [1,2].