Localization of the gene for familial adenomatous polyposis on chromosome 5

WF Bodmer, CJ Bailey, J Bodmer, HJR Bussey, A Ellis… - Nature, 1987 - nature.com
Colorectal cancer is the second most common cancer in the United Kingdom and other
developed countries in the West. Although it is usually not familial, there is a rare dominantly …

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

…, A Lindblom, J Lubinski, PJ Morrison, V Murday… - The Lancet, 2011 - thelancet.com
Background Observational studies report reduced colorectal cancer in regular aspirin
consumers. Randomised controlled trials have shown reduced risk of adenomas but none …

Localization of the gene for Cowden disease to chromosome 10q22–23

MR Nelen, GW Padberg, EAJ Peeters, AY Lin, B Helm… - Nature …, 1996 - nature.com
Abstract Cowden disease (CD)(MIM 158350), or multiple hamartoma syndrome, is a rare
autosomal dominant familial cancer syndrome with a high risk of breast cancer. Its clinical …

Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes

…, D Henley, P Herman, V Murday… - The Journal of …, 2006 - academic.oup.com
Context: The identification of mutations in genes encoding peptides of succinate
dehydrogenase (SDH) in pheochromocytoma/paraganglioma syndromes has necessitated …

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

DJ Marsh, JB Kum, KL Lunetta… - Human molecular …, 1999 - academic.oup.com
Germline mutations in the tumour suppressor gene PTEN have been implicated in two
hamartoma syndromes that exhibit some clinical overlap, Cowden syndrome (CS) and …

A recurrent 15q13. 3 microdeletion syndrome associated with mental retardation and seizures

…, C Torniero, R Giorda, R Regan, V Murday… - Nature …, 2008 - nature.com
We report a recurrent microdeletion syndrome causing mental retardation, epilepsy and
variable facial and digital dysmorphisms. We describe nine affected individuals, including …

Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)

P Ostergaard, MA Simpson, FC Connell, CG Steward… - Nature …, 2011 - nature.com
We report an allelic series of eight mutations in GATA2 underlying Emberger syndrome, an
autosomal dominant primary lymphedema associated with a predisposition to acute myeloid …

Tumor risks and genotype–phenotype–proteotype analysis in 358 patients with germline mutations in SDHB and SDHD

…, DGR Evans, SV Hodgson, V Murday… - Human …, 2010 - Wiley Online Library
Succinate dehydrogenase B (SDHB) and D (SDHD) subunit gene mutations predispose to
adrenal and extraadrenal pheochromocytomas, head and neck paragangliomas (HNPGL) …

Cancer and the Peutz-Jeghers syndrome.

AD Spigelman, V Murday, RK Phillips - Gut, 1989 - gut.bmj.com
Among 72 patients with the Peutz-Jeghers syndrome malignant tumours have developed in
16 (22%) of whom all but one have died. There were nine gastrointestinal and seven …

Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2

AR Afzal, A Rajab, CD Fenske, M Oldridge, N Elanko… - Nature …, 2000 - nature.com
The autosomal recessive form of Robinow syndrome (RRS; MIM 268310) is a severe
skeletal dysplasia with generalized limb bone shortening, segmental defects of the spine …