ea0056gp121 | Endocrine Case Reports | ECE2018
, Koziolek Monika
, Sieradzka Anna
, Rudnicka Marta
, Kiedrowicz Bartek
, Kazmierczyk-Puchalska Agnieszka
Introduction: CHEK2 mutations are associated with increased risk of having neoplasms of various organs, including thyroid, breast, colon, renal and ovarian cancers. Coexistence of thyroid and breast cancers was observed in female carriers of CHEK2 gene mutations. In polish population the most common mutations are those truncating CHEK2 protein (1100delC, IVS2+1G>A, del5395) and a missense I157T CHEK2 mutation. Carrying missense I157T mutation is connected with having twice...