Avtor/Urednik		Nizič, Tea; Krajc, Mateja; Blatnik, Ana; Stegel, Vida; Škerl, Petra; Novaković, Srdjan; Gazić, Barbara; Bešić, Nikola
Naslov		Bilateral disease common among Slovenian CHEK2-positive breast cancer patients
Tip		članek
Vol. in št.		, št. Vol. 28
Leto izdaje		2021
Obseg		str. 2561‐2570
ISSN		1068-9265 - Annals of surgical oncology
Jezik		eng
Abstrakt		. Currently, data on pathogenic variants in the CHEK2 gene and their impact on cancer risk are lacking. This study aimed to explore the characteristics of breast cancer (BC) patients from families with CHEK2 pathogenic variants in Slovenia. Methods. In the years 2014 to 2019, CHEK2 pathogenic variants/likely pathogenic variants (PV/LPVs) were found in probands from 50 different families who underwent genetic counseling and testing using a multigene panel at the authors% institution. Altogether, the study enrolled 75 individuals from 50 CHEK2 families who were carriers of a CHEK2 PV/LPV. The clinical data on 41 BC patients with CHEK2 PV/LPV and other carriers of CHEK2 PV/ LPV from Slovenia were collected and analyzed. Results. Breast cancer was diagnosed in 41 of 75 CHEK2 PV/LPV carriers (40 females, 1 male). The mean age at BC diagnosis was 42.8 years (range, 21%63 years), and 27 (65.8%) of the 41 of patients with BC had a positive family history for BC. Contralateral BC (CBC) was observed in 8 (19.5%) of the 41 patients (mean age, 55.6 years). Of 12 patients with human epidermal growth factor receptor 2 (HER2)-positive tumor type, a c.444?1G [A PV/LPV was detected in 4 patients, c.349A [ G in 3 patients, deletion of exons 9%10 in 3 patients, deletion of exon 8 in 1 patient, and c.1427C [ T PV/LPV in 1 patient. Conclusion. Bilateral BC was diagnosed in as many as 19.5% of the Slovenian BC patients with CHEK2 PV/ LPVs. Breast cancer associated with a germline CHEK2 PV/LPV occurs in younger patients compared with sporadic BC.
Proste vsebinske oznake		rak dojke dedni rak genski testi breast cancer family cancer gene tests