Department of Medical Genetics
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Clinical Implications of Germline Mutations in Breast Cancer Genes –RECQL
This review describes the prevalence of germline TP53 mutations, the risk of breast cancer and other cancers in mutation carriers and management implications for women with breast cancer and unaffected women. -
p.Val804Met, the most frequent pathogenic mutation in RET, confers a very low lifetime risk of medullary thyroid cancer
ABSTRACT Context. To date, penetrance figures for medullary thyroid cancer (MTC) for variants in RET have been estimated from families ascertained on account of presence of MTC. Objective. To gain estimates of penetrance ... -
pedigreejs: a web-based graphical pedigree editor.
(OUP, 2018-03)Motivation: The collection, management and visualisation of clinical pedigree (family history) data is a core activity in clinical genetics centres. However, clinical pedigree datasets can be difficult to manage, as they ... -
The RAB11A-Positive Compartment Is a Primary Platform for Autophagosome Assembly Mediated by WIPI2 Recognition of PI3P-RAB11A.
(Elsevier, 2018-04)Autophagy is a critical pathway that degrades intra-cytoplasmic contents by engulfing them in double-membraned autophagosomes that are conjugated with LC3 family members. These membranes are specified by phosphatidylinositol ...
