Princess Anne Hospital

Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas

Claire Palles, Jean‐Baptiste Cazier, Kimberley Howarth et al. · Nature Genetics · 2012 · 986 citations · Full text

PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene

Nazneen Rahman, Sheila Seal, Deborah J. Thompson et al. · Nature Genetics · 2006 · 981 citations · Full text

Tumor Biology, Breast Oncology, Brca2-interacting Protein +11

Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial

John Burn, Anne‐Marie Gerdes, Finlay Macrae et al. · The Lancet · 2011 · 940 citations · Full text

Long-term Effect, Oncology, Cancer Epidemiology +8

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

Sharon E. Plon, Diana Eccles, Douglas F. Easton et al. · Human Mutation · 2008 · 897 citations · Full text

Genetic Testing, Cancer Pathology, Sequence Variant Classification +20

Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles

Sheila Seal, Deborah J. Thompson, Anthony Renwick et al. · Nature Genetics · 2006 · 754 citations

Allelic Variant, Somatic Variant, Medicine +7