Article
UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2.
Journal of medical genetics - 1 May 2023
Hanson Helen, Kulkarni Anjana, Loong Lucy, Kavanaugh Grace, Torr Bethany, Allen Sophie, Ahmed Munaza, Antoniou Antonis C, Cleaver Ruth, Dabir Tabib, Evans D Gareth, Golightly Ellen, Jewell Rosalyn, Kohut Kelly, Manchanda Ranjit, Murray Alex, Murray Jennie, Ong Kai-Ren, Rosenthal Adam N, Woodward Emma Roisin, Eccles Diana M, Turnbull Clare, Tischkowitz Marc, Lalloo Fiona
Abstract excerpt
Germline pathogenic variants (GPVs) in the cancer predisposition genes BRCA1, BRCA2, MLH1, MSH2, MSH6, BRIP1, PALB2, RAD51D and RAD51C are identified in approximately 15% of patients with ovarian cancer (OC). While there are clear guidelines around clinical management of cancer risk in patients with GPV in BRCA1, BRCA2, MLH1, MSH2 and MSH6, there are few guidelines on how to manage the more moderate OC risk in...
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