Germline mutations affecting STK11 (LRG_319) are profoundly studied in
relation to Peutz-Jeghers syndrome, predisposing to the development of
various cancers at multiple sites. Though somatic mutations in STK11 are
found to be present in several cancers, limited data on its involvement in
sporadic breast cancer are available. The present study aims to evaluate the
frequency and spectrum of genetic alterations in STK11 in a group of
Bulgarian patients with sporadic breast cancer. A total of 73 tumor and 22
corresponding blood specimens derived from the patients, and 10 blood
samples from clinically healthy controls were analyzed. High Resolution
Melting analysis followed by Sanger sequencing and bioinformatic prediction
tools were utilized. Seven patients (9.58%) harbored STK11 alterations, only
two (2.74%) of which are exonic: one nonsense c.322A>T; p.K108X
(deleterious) and one missense c.440G>A; p.Arg147His (of unknown
significance). Two intronic variants were also observed: c.290+36G>T and
c. *16+18C>A (novel). To our knowledge the results represent the first data
indicating presence of STK11 alterations in patients with sporadic breast
cancer. The limited number of the detected deleterious mutations indicates
that mutational inactivation of the gene is a rare event and probably plays
a minor role in sporadic breast carcinogenesis.
STK11 gene mutations in patients with Peutz-Jeghers syndrome
