Accumulation of Krebs cycle intermediates and over-expression of HIF1α in tumours which result from germline FH and SDH mutations

Patrick J. Pollard, J.-J. Brière, Neyaz Alam, +18

Human Molecular Genetics

PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome

Deborah J. Marsh, Jennifer B. Kum, Kathryn L. Lunetta, +28

Human Molecular Genetics

Genotype-phenotype CorrelationsMendelian DisorderMalignant DiseaseGenetic DisorderGenetics +13

Further observations on LKB1/STK11 status and cancer risk in Peutz–Jeghers syndrome

Wendy Lim, Nicholas Hearle, Bindiya Shah, +22

British Journal of Cancer

Germline PTEN mutations in Cowden syndrome-like families.

Deborah J. Marsh, Patricia L. M. Dahia, Stacey Caron, +9

Journal of Medical Genetics

GeneticsPathologyCowden SyndromeMolecular GeneticsMultiple Hamartoma Syndrome +16

Clinical and molecular features of the hereditary mixed polyposis syndrome

S Whitelaw, VA Murday, I. Tomlinson, +10

Gastroenterology

Allelic VariantGenetic DisorderMedicineGeneticsHuman Polymorphism +5

Phenotypic expression in familial adenomatous polyposis: partial prediction by mutation analysis.

Karen Nugent, R K S Phillips, S V Hodgson, +4

Gut

Fap ControlsCancer PathologyPhenotypic ExpressionGeneticsGenetic Epidemiology +16

Refining the Amsterdam Criteria and Bethesda Guidelines: Testing Algorithms for the Prediction of Mismatch Repair Mutation Status in the Familial Cancer Clinic

Lara Lipton, Victoria Johnson, C. Cummings, +9

Journal of Clinical Oncology

Incidence of multiple primary cancers in a cohort of women diagnosed with breast cancer in southeast England

Helen Evans, Cathryn M. Lewis, David Robinson, +3

British Journal of Cancer

Cowden syndrome and Lhermitte-Duclos disease in a family: a single genetic syndrome with pleiotropy?

Charis Eng, Victoria Murday, S. Seal, +6

Journal of Medical Genetics

Genetic EpidemiologyImmunologyPathologyCowden SyndromeDisease Gene Identification +14

An Ancestral Ashkenazi Haplotype at the HMPS/CRAC1 Locus on 15q13–q14 Is Associated with Hereditary Mixed Polyposis Syndrome

E Jaeger, K Woodford-Richens, M. Lockett, +17

The American Journal of Human Genetics

Haplotype DeterminationGenetic DisorderGeneticsPathologyHmps/crac1 Locus +4