Luis G Carvajal-Carmona
Affiliation: Cancer Research UK
- EPHB2 germline variants in patients with colorectal cancer or hyperplastic polyposisAntti Kokko
Department of Medical Genetics, Molecular and Cancer Biology Research Program, P, O, Box 63, 00014 University of Helsinki, Finland
BMC Cancer 6:145. 2006..Inactivation of the gene has been shown to correlate with progression of colorectal tumorigenesis, and somatic mutations have been reported in both colorectal and prostate tumors...
- Adult leydig cell tumors of the testis caused by germline fumarate hydratase mutationsLuis G Carvajal-Carmona
Laboratory of Molecular and Population Genetics, London Research Institute, Cancer Research UK, London WC2A 3PX, United Kingdom
J Clin Endocrinol Metab 91:3071-5. 2006..We identified an LCT in an affected individual from a kindred with hereditary leiomyomatosis and renal cell cancer (HLRCC) and a germline fumarate hydratase (FH) mutation (N64T)...
- Molecular classification and genetic pathways in hyperplastic polyposis syndromeL G Carvajal-Carmona
Molecular and Population Genetics Laboratory, London Research Institute, Cancer Research UK, London WC2A 3PX, UK
J Pathol 212:378-85. 2007..We propose a specific model which would have diagnosed five more of our cases as HPPS compared with the WHO clinical criteria...
- Homozygous PMS2 deletion causes a severe colorectal cancer and multiple adenoma phenotype without extraintestinal cancerOlivia Will
Molecular and Population Genetics Laboratory, London Research Institute, Cancer Research, London, UK
Gastroenterology 132:527-30. 2007..He also had dysmorphic features, mental retardation, and café-au-lait spots but no brain tumor. We aimed to establish his molecular diagnosis...
- Comprehensive assessment of variation at the transforming growth factor beta type 1 receptor locus and colorectal cancer predispositionLuis G Carvajal-Carmona
Molecular and Population Genetics Laboratory, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, United Kingdom
Proc Natl Acad Sci U S A 107:7858-62. 2010..We conclude that neither genetic variation nor ASE at TGFBR1 is likely to be a major CRC risk factor...
- Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomasClaire Palles
Molecular and Population Genetics Laboratory, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
Nat Genet 45:136-44. 2013..Further analysis of published data showed that the recently described group of hypermutant, microsatellite-stable CRCs is likely to be caused by somatic POLE mutations affecting the exonuclease domain...
- Evidence of linkage to chromosome 9q22.33 in colorectal cancer kindreds from the United KingdomZoe E Kemp
Molecular and Population Genetics Laboratory, Cancer Research UK, London, United Kingdom
Cancer Res 66:5003-6. 2006..The results presented here further support the existence of a colorectal cancer susceptibility gene on chromosome 9q and refine its likely location...
- Mutations of the PU.1 Ets domain are specifically associated with murine radiation-induced, but not human therapy-related, acute myeloid leukaemiaNirosha Suraweera
Cancer Research UK Laboratories, St Mark s Hospital, Harrow, UK
Oncogene 24:3678-83. 2005..1, as a consequence of flanking radiation-sensitive fragile domains on chromosome 2, and subsequent R235 conversion are highly specific to this mouse model. Such a mechanism does not operate, or is extremely rare, in human AML...
- A family with juvenile polyposis linked to the BMPR1A locus: cryptic mutation or closely linked gene?Elizabeth Chow
Department of Colorectal Medicine and Genetics, The Royal Melbourne Hospital, Melbourne, Victoria, Australia
J Gastroenterol Hepatol 22:2292-7. 2007..Genetic heterogeneity remains evident, as the balance of cases is not accounted for by mutations in these genes. The aim of this study was to determine the mutation responsible in a family with juvenile polyposis...