Ontology highlight
ABSTRACT:
SUBMITTER: Sadzeviciene I
PROVIDER: S-EPMC7143304 | biostudies-literature | 2020 Mar
REPOSITORIES: biostudies-literature
Sadzevičienė Ieva I Jarmalaitė Sonata S Besusparis Justinas J Liaugaudienė Olga O Asadauskienė Jolita J Brasiūnienė Birutė B Kulikienė Ilona I Sabaliauskaitė Rasa R
Medicina (Kaunas, Lithuania) 20200310 3
Approximately 10% of all breast cancer (BC) cases are familial and caused by inheritance of mutant <i>BRCA1</i>, <i>BRCA2</i><i>,</i> or some other genes from the same DNA reparation pathway. Genetic counseling in families with cancer history is a powerful means for early cancer detection and active risk reduction through preventive interventions. This is the first report of the rare inherited <i>BRCA2</i> frameshift-deletion mutation c.3847_3848delGT in one Lithuanian pedigree with the intense ...[more]