ENIGMA Virtual Meeting 2020
We’ve just organized a virtual ENIGMA meeting.
(30 June-2 July, 2020).
For details see the membership meeting page.
We’ve just organized a virtual ENIGMA meeting.
(30 June-2 July, 2020).
For details see the membership meeting page.
This review suggests a framework for a common vocabulary that may facilitate understanding and clarity in clinical reporting of germline genetic tests for cancer susceptibility
(Spurdle et al., 2019).
Research and clinical data for multifactorial likelihood analysis were collated enabling classification based on posterior probability of pathogenicity for 734 variants
(Parsons et al., 2019) .
New ENIGMA publication describes the existence of 5’ non-coding variants in BRCA1 and BRCA2 that alter promoter activity and protein binding (Burke et al., 2018)
Recent ENIGMA publication describes the clinical significance of missense variant BRCA1 c.5309G>T p.(Gly1770Val) (Tudini et al, 2018)
Two recent publications describe the cancer risk associated with hypomorphic variants in BRCA1 and BRCA2.