Quantifying phenotypic specificity (PP4) of rare germline FH variants from diagnostic laboratory testing for HLRCC and renal cancer
Authors: Sophie Allen; Charlie F. Rowlands; Samantha Butler; Miranda Durkie; Carrie Horton; Tina Pesaran; Marcy Richardson; Rachel Robinson; Alice Garrett; George J. Burghel; Alison Callaway; Joanne Field; Bethan Frugtniet; Sheila Palmer-Smith; Jonathan Grant; Judith Pagan; Trudi McDevitt; Katie Snape; Avgi Andreou; Eamonn R. Maher; Helen Hanson; Terri McVeigh; Clare Turnbull
Collaborators: Birmingham Women's and Children's NHS Foundation Trust; Cardiff University; Institute of Cancer Research, London; Manchester University NHS Foundation Trust; Nottingham University Hospitals NHS Trust; Queen Elizabeth University Hospital; Royal Devon and Exeter NHS Foundation Trust; Royal Marsden NHS Foundation Trust; Sheffield Children's NHS Foundation Trust; St George's University Hospitals NHS Foundation Trust; The Leeds Teaching Hospitals NHS Trust; University of Cambridge; University of Exeter Medical School; University of Southampton