Professor Shirley V. Hodgson

Research interests

The sub-speciality of Cancer Genetics within Medical Genetics is developing rapidly, and we were awarded £254,154 from Macmillan Cancer Support and the Department of Health to develop cancer genetics services in the SW Thames Region. There are two projects (one underway and one recently awarded) to evaluate management of families with an inherited risk of colorectal cancer.

We are studying carriers of BRCA1 and BRCA2 mutations to delineate an abnormal cellular response to irradiation. Current work involves mapping and identifying new genes predisposing to breast and colon cancer. We are also looking at radiosensitivity and apoptosis in breast cancer cases versus controls, and in breast cancer susceptibility gene carriers.

We have just been awarded a new POET (prevention of endometrial tumours) study grant from CR-UK for 5 years to the value of £109,477 for the first year and is renewable every year for 5 years to do a national randomised trial of the Mirena progestagen intrauterine system to evaluate whether it reduces the risk of endometrial cancer in women with a cancer predisposing condition increasing their risks of endometrial cancer.

Publications            2000 - 2006

2006

Cranston A, Carniti C, Martin S, Mondellini P, Leyland J, Hodgson S, Clarke S, Pierotti M, Ponder BA, Bongarzone I (2006). A novel activating mutation in the RET Tyrosine Kinase domain mediates neoplastic transformation. Mol Endocrinol Feb 9. (Epub ahead of print)

Ellis D, Patel Y, Yau SC, Hodgson SVC, Abbs SJ, 2006 Low prevalence of BRCA1 exon rearrangements in familial and young sporadic breast cancer patients. Fam. Cancer May25 epub

Winchester E and Hodgson SV (2006). Psychosocial and ethical issues relating to genetic testing for BRCA1 and BRCA2 breast cancer susceptibility genes. Women’s Health 2 (3):357-373.

Mitchell G, Antoniou AC, Warren R, Peock S, Brown J, Davies R, Mattison J, Cook M, Warsi I, Evans DG, Eccles D, Douglas F, Paterson J, Hodgson S, Izatt L, Cole T, Burgess L, Eeles R, Easton DF (2006). Mammographic density and breast cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Research 66 (3):1866-1872.

Hearle NCM, Rudd MF, Lim W, Murday V, Lim AG, Phillips RK, Lee PW, O’Donohue J, Morrison PJ, Norman A, Hodgson SV, Lucassen A, Houlston RS (2006). Exonic STK11 deletions are not a rare cause of Peutz-jeghers syndrome. Journal of Medical Genetics 43(4) P: Article el 5.

Jefferies S, Kote-Zarai Z, Goldgar D et al 2006 Association between polymorphisms of the GPX1 gene and second primary tumours after index squamous cell cancer of the head and neck. Oral Oncol. 41:455-61

2005

Sethi B, Makhija P, Sidhu KP, Ryder K, Hamed H, Hodgson S, D'Arrigo C.

Better survival and distinguishing pathological features of breast cancer in patients with BRCA-1 germline mutations. J Pathol 2005, 207(Supp):6-6

Geary J, Dorkins H, Mackay J, Izatt L, Thomas H, Houlston R, Eeles R, Hodgson SV. HNPCC - Where does the buck stop? J Med Genet 2005, 42(Supp 1):S20-S20

Barwell J, Georgiou A, Kesterton I, Pangon L, Langman C, Berg J, Kote-Jarai Z, Green P, Sodha N, Morris J, Solomon E, Docherty Z, Camplejohn R, Eeles R, Hodgson S. Radiosensitivity in breast cancer susceptibility. J Med Genet 2005, 42(Supp 1):S21-S21

Johnson V, Lipton LR, Cummings C, Eftekhar Sadat AT, Izatt L, Hodgson SV, Talbot IC, Thomas HJW, Silver AJR, Tomlinson IPM (2005). Analysis of somatic molecular changes, clinicopathological features, family history, and germline mutations in colorectal cancer families: evidence for efficient diagnosis of HNPCC and for the existence of distinct groups of non-HNPCC families. Journal of Medical Genetics 42:756-762.

Turnbull C and Hodgson SV (2005). Genetic predisposition to cancer. Clinical Medicine 5 (5):491-8

Warren RML, Pointon L, Thompson D, Hoff R, Gilbert FJ, Padhani A, Easton D, Lakhani S, Leach MO for the UK Magnetic Resonance Imaging in Breast Screening (MARIBS) Study Group (2005). Reading Protocol for Dynamic Contrast-enhanced MR Images of the Breast: Sensitivity and Specificity Analysis. Radiology 236: 779-788.

Pollard PJ, Briere JJ, Alam, NA, Barwell J, Barclay E, Wortham, NC, Hunt T, Mitchell M, Olpin S, Moat SJ, Hargreaves IP, Heales SJ, Chung YL, Griffiths JR, Dalgleish A, McGrath JA, Gleeson MJ, Hodgson SV, Poulsom R, Rustin P, Tomlinson IPM (2005). Accumulation of Krebs cycle intermediates and over-expression of HIF1a in tumours which result from germline FH and SDH mutations. Human Molecular Genetics 14 15:2231-2239.

Tikhomirova L, Sinicka O, Smite D, Eglitis J, Hodgson SV, Stengrevics A (2005) High prevalence of two BRCA1 mutations, 415delA and 538insC, in Latvia. Familial Cancer (4): 2, p77-84.

Johnson V, Lipton L, Cummings C, Eftekhar Sadat A, Izatt L, Hodgson S, Talbot I,Thomas H, Silver A, Tomlinson I. (2005) Analysis of somatic molecular changes, clinicopathological features, family history and germline mutations in colorectal cancer families: evidence for efficient diagnosis of HNPCC and for distinct groups of non-HNPCC families. BMC Genomics. 2005 Mar 23; [Epub ahead of print]

Hearle NCM, Tomlinson I, Lim W, Murday V, Swarbrick E, Lim G, Phillips R, Lee P, O’Donohue J, Trembath RC, Morrison PJ, Norman A, Taylor R, Hodgson S, Lucassen A, Houlston RS. (2005) Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome. BMC Genomics 6 (1): 38 [Epub ahead of print]

Callen E, Casado JA, Tischkowitz MD, Bueren JA, Creus A, Marcos R, Dasi A, Estella JM, Munoz A, Ortega JJ, de Winter J, Joenje H, Schindler D, Hanenberg H, Hodgson SV, Mathew CG, Surralles J. (2005) A common founder mutation in FANCA underlies the world’s highest prevalence of Fanconi anaemia in Gypsy families from Spain. Blood 105 (5): 1946-9.

2004

Lipton LR, Johnson V, Cummings C, Fisher S, Risby P, Eftekhar Sadat AT, Cranston T, Izatt L, Sasieni P, Hodgson SV, Thomas HJW, Tomlinson IPM. (2004) Refining the Amsterdam Criteria and Bethesda Guidelines: Testing Algorithms for the Prediction of Mismatch Repair Mutation Status in the Familial Cancer Clinic. J Clin Oncol. 22 (24): 4934-4943.

Brodersen NH, Sutton S, Goff S, Hodgson SV, Thomas HJW. (2004) Anticipated reactions to genetic testing for hereditary non-polyposis colorectal cancer susceptibility. Clinical Genetics 66 (5): 437-444.

Hodgson SV, Morrison P, J, Irving M. (2004) Breast cancer genetics: Unsolved questions and Open Perspectives in an expanding clinical practice. Am J Med Genet. Seminars in Medical Genetics 129C: 56-64.

Tischkowitz MD, Morgan NV, Grimwade D, Eddy C, Ball S, Vorechovsky I, Langabeer S, St?ger R, Hodgson SV, Mathew CG. (2004) Deletion and reduced expression of the Fanconi anaemia FANCA gene in sporadic acute myeloid leukemia. Leukemia 18, 420-425.

Crabtree MD, Fletcher C, Churchman M, Hodgson SV, Neale K, Phillips RK, Tomlinson IP. (2004) Analysis of candidate modififier loci for the severity of colonic familial adenomatous polyposis, with evidence for the importance of the N-acetyl transferases. Gut 53 (2): 271-276.

Stermer T, Hodgson S, Kavalier F, Watts S, Jones R. (2004) Patients’ and professionals’ opinions of services for people at an increased risk of colorectal cancer: an exploratory qualitative study. Familial Cancer 3 (1): 49-53.

Murday V, Pears R, Ball J, Eeles R, Hodgson S. (2004) An audit of screening for familial breast cancer before 50 years in the South Thames Region — have we got it right? Familial Cancer 3 (1):29-34.

Mant C, Hodgson S, Hobday R, D’Arrigo C, Cason J. (2004) Viruses in the aetiology of breast cancer. Intervirology 47: 2-13.

2003

Astuti D, Hart-Holden N, Latif F, Lalloo F, Black GC, Lim C Moran A, Grossman AB, Hodgson SV, Freemont A, Ramsden R, Eng C, Evans DG, Maher ER. (2003) Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibility. Clin Endocrinol (Oxf). 59 (6): 728-733.

Lipton L, Halford SE, Johnson V, Novelli MR, Jones A, Cummings C, Barclay E, Sieber O, Sadat A, Bisgaard ML, Hodgson SV, Aaltonen LA, Thomas HJ, Tomlinson IP. (2003) Carcinogenesis in MYH-associated polyposis follows a distinct genetic pathway. Cancer Res. 63 (22): 7595-9.

Tischkowitz MD, Hodgson SV. (2003) Fanconi anaemia. J Med Genet. 40 (1): 1-10.

Hodgson SV, Morrison P, J, Irving M. (2004) Breast cancer genetics: Unsolved questions and Open Perspectives in an expanding clinical practice. Am J Med Genet. Seminars in Medical Genetics 129C: 56-64.

Levene S, Scott G, Price P, Sanderson J, Evans H, Taylor C, Bass S, Lewis C, Hodgson S. (2003) Does the occurrence of certain rare cancers indicate an inherited cancer susceptibility? Familial Cancer 2 (1): 15-25.

Lipton L, Crabtree M, Heinimann K, Fidalgo P, Phillips RK, Bisgaard ML, Orntoft TF, Aaltonen LA, Hodgson SV, Thomas HJ, Tomlinson IP. (2003) Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. N Engl J Med. 348, 791-799.

Jakobs PM, O’Dwyer ME, Olson SB, Le Beau MM, Hodgson SV, Mathew CG, Larson RA, Bagby GC. (2003) Acquired FANCA dysfunction and cytogenetic instability in adult acute myelogenous leukemia. Blood 102 (1): 7-16.

Camplejohn RS, Gilchrist R, Easton D, McKenzie-Edwards E, Barnes DM, Eccles DM, Ardern-Jones A, Hodgson SV, Duddy PM, Eeles RA. (2003) Apoptosis, ageing and cancer susceptibility. Br J Cancer 88, 487-490.

Tischkowitz M, Ameziane N, Hodgson SV, Mathew CG, Joenje H, Mok SC, D'Andrea AD. (2003) Disruption of the Fanconi anemia-BRCA pathway in cisplatin-sensitive ovarian tumors. Nat Med. 9(5):568-74.

Laiho P, Hienonen T, Karhu A, Lipton L, Aalto Y, Thomas HJ, Birkenkamp-Demtroder K, Hodgson S, Salovaara R, Mecklin JP, Jarvinen H, Knuutila S, Halford S, Orntoft TF, Tomlinson I, Launonen V, Houlston R, Aaltonen LA. (2003) Genome-wide allelotyping of 104 Finnish colorectal cancers reveals an excess of allelic imbalance in chromosome 20q in familial cases. Oncogene 22, 2206-2214.

150 Apicella C, Andrews L, Hodgson SV, Fisher SA, Lewis CM, Solomon E, Tucker K, Friedlander M, Bankier A, Southey MC, Venter DJ, Hopper JL. (2003) Log odds of carrying an Ancestral Mutation in BRCA1 or BRCA2 for a Defined personal and family history in an Ashkenazi Jewish woman (LAMBDA). Breast Cancer Res. 5 (6): R206-216.

Sieber OM, Lipton L, Crabtree M, Heinimann K, Fidalgo P, Phillips RK, Bisgaard ML, Orntoft TF, Aaltonen LA, Hodgson SV, Thomas HJ, Tomlinson IP. (2003) Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. N Engl J Med. 348 (9): 791-799.

Lipton L, Sieber OM, Thomas HJ, Hodgson SV, Tomlinson IP, Woodford-Richens K. (2003) Germline mutations in the TGF-beta and Wnt signalling pathways are a rare cause of the "multiple" adenoma phenotype. J Med Genet. 40 (4): e35.

Taniguchi T, Tischkowitz M, Ameziane N, Hodgson SV, Mathew CG, Joenje H, Mok SC, D'Andrea AD. (2003) Disruption of the Fanconi anemia-BRCA pathway in cisplatin-sensitive ovarian tumors. Nat Med. 9 (5): 568-574.

Hodgson SV, Popat S. (2003) Polymorphic sequence variants in medicine: a challenge and an opportunity. Clin Med. 3 (3): 260-264. Review.

Halford SE, Rowan AJ, Lipton L, Sieber OM, Pack K, Thomas HJ, Hodgson SV, Bodmer WF, Tomlinson IP. (2003) Germline mutations but not somatic changes at the MYH locus contribute to the pathogenesis of unselected colorectal cancers. Am J Pathol. 162 (5): 1545-1548.

Jaeger EE, Woodford-Richens KL, Lockett M, Rowan AJ, Sawyer EJ, Heinimann K, Rozen P, Murday VA, Whitelaw SC, Ginsberg A, Atkin WS, Lynch HT, Southey MC, Debinski H, Eng C, Bodmer WF, Talbot IC, Hodgson SV, Thomas HJ, Tomlinson IP. (2003) An ancestral Ashkenazi haplotype at the HMPS/CRAC1 Locus on 15q13-q14 is associated with hereditary mixed polyposis syndrome. Am J Hum Genet 72 (5):1261-1267.

Evans HS, Newnham A, Hodgson SV, Moller H. (2003) Second primary cancers after cervical intraepithelial neoplasia III and invasive cervical cancer in Southeast England. Gynecol Oncol. 90 (1): 131-136.

Lensch MW, Tischkowitz M, Christianson TA, Reifsteck CA, Speckhart SA, Jakobs PM, O’Dwyer ME, Olson SB, le Beau MM, Hodgson SV, Mathew CG, larson RA, Bagby GC Jr. (2003) Acquired FANCA dysfunction and cytogenetic instability in adult acute myelogenous leukemia. Blood 102 (1): 7-16.

Crabtree M, Sieber OM, Lipton L, Hodgson SV, Lamlum H, Thomas HJ, Neale K, Phillips RK, Heinimann K, Tomlinson IP. (2003) Refining the relation between ‘first hits’ and ‘second hits’ at the APC locus: the ‘loose fit’ model and evidence for differences in somatic mutation spectra among patients. Oncogene 22 (27): 4257-4265.

Lim W, Hearle N, Shah B, Murday V, Hodgson SV, Lucassen A, Eccles D, Talbot I, Neale K, Lim AG, O’Donohue J, Donaldson A, Macdonald RC, Young ID, Robinson MH, Lee PW, Stodley BJ, tomlinson I, Alderson D, Holbrok AG, Vyas S, Swarbrick ET, Lewis AA, Phillips RK, Houlston RS. (2003) Further observations on LKB1/STK11 status and cancer risk in Peutz-Jegher syndrome. Br J Cancer 89 (2): 308-313

Lipton L, Fleischmann C, Sieber OM, Thomas HJ, Hodgson SV, Tomlinson IP, Houlston RS. (2003) Contribution of the CHEK2 1100delC variant to risk of multiple colorectal adenoma and carcinoma. Cancer Lett. 200(2): 149-152.

Tischkowitz M, Ameziane N, Waisfisz Q, De Winter JP, Harris R, Taniguchi T, D’Andrea A, Hodgson SV, Mathew CG, Joenje H. (2003) Bi-allelic silencing of the Fanconi anaemia gene FANCF in acute myeloid leukaemia. Br J Haematol. 123 (3): 469-71.

2002

Sieber OM, Lamlum H, Crabtree MD, Rowan AJ, Barclay E, Lipton L, Hodgson S, Thomas HJ, Neale K, Phillips RK, Farrington SM, Dunlop MG, Mueller HJ, Bisgaard ML, Bulow S, Fidalgo P, Albuquerque C, Scarano MI, Bodmer W, Tomlinson IP, Heinimann K. (2002) Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or "multiple" colorectal adenomas. Proc Natl Acad Sci. USA 99, 2954-2958.

Bish A, Sutton S, Jacobs C, Levene S, Ramirez A, Hodgson S. (2002) Changes in psychological distress after cancer genetic counselling: a comparison of affected and unaffected women. Br J Cancer 86, 43-50.

Brown MA, Lo LJ, Catteau A, Xu CF, Lindeman GJ, Hodgson S, Solomon E. (2002) Germline BRCA1 promoter deletions in UK and Australian familial breast cancer patients: Identification of a novel deletion consistent with BRCA1:psiBRCA1 recombination. Human Mutat. 19 (4), 435-442.

Evans HS, Moller H, Robinson D, Lewis CM, Bell CM, Hodgson SV. (2002) The risk of subsequent primary cancers after colorectal cancer in southeast England. Gut 50, 647-652.

Groves C, Lamlum H, Crabtree M, Williamson J, Taylor C, Bass S, Cuthbert-Heavens D, Hodgson S, Phillips R, Tomlinson I. (2002) Mutation cluster region, association between germline and somatic mutations and genotype-phenotype correlation in upper gastrointestinal familial adenomatous polyposis. Am J Pathol 160, 2055-2061.

Crabtree MD, Tomlinson IPM, Hodgson SV, Neale K, Phillips RKS, Houlston RS. (2002) Explaining variation in familial adenomatous polyposis: relationship between genotype and phenotype and evidence for modifier genes. Gut 51, 420-423.

Bish A, Sutton S, Jacobs C, Levene S, Ramirez A, Hodgson S. (2002) No news is (not necessarily) good news: impact of preliminary results for BRCA1. Genet Med. 4, 353-338.

Meitz JC, Edwards SM, Easton DF, Murkin A, Ardern-Jones A, Jackson RA, Williams S, Dearnaley DP, Stratton MR, Houlston RS, The Cancer Research UK/BPG UK Familial Prostate Cancer Study Collaborators, Eeles R. (2002) HPC2/ELAC2 polymorphisms and prostate cancer risk: analysis by age of onset of disease. Br J Cancer 87, 905-908.

McCarron SL, Edwards S, Evans PR, Gibbs R, Dearnaley DP, Dowe A, Southgate C, The Cancer Research Campaign/British Prostate Group United Kingdom Familial Prostate Cancer Study Collaborators, Easton DF, Eeles RA, Howell WM. (2002) Influence of cytokine gene polymorphisms on the development of prostate cancer. Cancer Res. 62, 3369-3372.

Kote-Jarai Z, Durocher F, Edwards SM, Hamoudi R, Jackson RA, Ardern-Jones A, Murkin A, Dearnaley DP, Kirby R, Houlston R, The CRC/BPG UK Familial Prostate Cancer Collaborators, Easton DF, Eeles R. (2002) Association between the GCG polymorphism of the selenium dependent GPX1 gene and the risk of young onset prostate cancer. Prostate Cancer Prostatic Dis. 5, 189-192.

Tischkowitz MD, Hodgson SV, Fentiman IS. (2002) Male breast cancer: aetiology, genetics and clinical management. Int J Clin Pract 56, 750-754.

Sieber OM, Heinimann K, Gorman P, Lamlum H, Crabtree M, Simpson CA, Davies D, Neale K, Hodgson SV, Roylance RR, Phillips RK, Bodmer WF, Tomlinson IP. (2002) Analysis of chromosomal instability in human colorectal adenomas with two mutational hits at APC. Proc Natl Acad Sci USA 99, 16910-16915.

Leach MO, Eeles RA, Turnbull LW, Dixon AK, Brown J, Hoff RJ, Coulthard A, Dixon JM, Easton DF, Evans DG, Gilbert FJ, Hawnaur J, Hayes C, Kessar P, Lakhani S, Liney G, Moss SM, Padhani AP, Pointon LJ, Sydenham M, Walker LG, Warren RM, Haites NE, Morrison P, Cole T, Rayter Z, Donaldson A, Shere M, Rankin J, Goudie D, Steel CM, Davidson R, Chu C, Ellis I, Mackay J, Hodgson SV, Homfray T, Douglas F, Quarrell OW, Eccles DM, Gilbert FG, Crothers G, Walker CP, Jones A, Slack N, Britton P, Sheppard DG, Walsh J, Whitehouse G, Teh W, Rankin S, Boggis C, Potterton J, McLean L, Gordon PA, Rubin C. (2002) The UK national study of magnetic resonance imaging as a method of screening for breast cancer (MARIBS). J Exp Clin Cancer Res. 21(Suppl 3), 107-114.

2001

Kerr TP, Duward A, Hodgson SV, Hughes E, Robb SA. (2001) Hyperkalaemic cardiac arrest in a manifesting carrier of Duchenne muscular dystrophy following general anaesthesia. Eur J Pediatr. 160, 579-580.

Zhou XP, Woodford-Richens K, Lehtonen R, Kurose K, Aldred M, Hampel H, Launonen V, Virta S, Pilarski R, Salovaara R, Bodmer WF, Conrad BA, Dunlop M, Hodgson SV, Iwama T, Jarvinen H, Kellokumpu I, Kim JC, Leggett B, Markie D, Mecklin JP, Neale K, Phillips R. Piris J, Rozen P, Houlston RS, Aaltonen LA, Tomlinson IP, Eng C. (2001) Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes. Am J Hum Genet. 69, 704-711.

Mackie Ogilvie C, Harrison RH, Horsley SW, Hodgson SV, Kearney L. (2001) A mitotically stable marker chromosome negative for whole chromosome libraries, centromere probes and chromosome specific telomere regions: a novel class of supernumerary marker chromosome? Cytogenet. Cell Genet. 92, 69-73.

123 Fenton PA, Clarke SE, Owen W, Hibbert J, Hodgson SV. (2001) Cribriform variant papillary thyroid cancer: a characteristic of familial adenomatous polyposis. Thyroid 11, 193-197.

Evans HS, Lewis CM, Robinson D, Bell CM, Moller H, Hodgson SV. (2001) Incidence of multiple primary cancers in a cohort of women diagnosed with breast cancer in southeast England. Br J Cancer 84, 435-440.

Kote-Jarai Z, Easton D, Edwards SM, Jefferies S, Durocher F, Jackson RA, Singh R., Ardern-Jones A, Murkin A, Dearnaley DP, Shearer R, Kirby R, Houlston R, Eeles R. The CRC/BPG UK Familial Prostate Cancer Study Collaborators (2001) Relationship between glutathione S-transferase M1, P1 and T1 polymorphisms and early onset prostate cancer. Pharmacogenetics 11, 325-330.

Evans HS, Lewis CM, Robinson D, Bell CM, Moller H, Hodgson SV. (2001) Cancer risks in women with 2 breast or ovarian cancers: clues to genetic cancer susceptibility. Int J Cancer 94, 758-759.

Eccles D, Simmonds P, Goddard J. Coultas M, Hodgson S, Lalloo F, Evans G, Haites N. (2001) Familial breast cancer: an investigation into the outcome of treatment for early stage disease. Familial Cancer 1, 65-72.

Lipton L, Thomas HJW, Eeles R, Houlston RS, Longmuir M, Davison R, Hodgson SV, Murday VA, Norbury CG, Taylor C, Tomlinson IPM (2001) Apparent Mendelian inheritance of breast and colorectal cancer: chance, genetic heterogeneity or a new gene? Familial Cancer 1, 189-195.

2000

Olavesen MG, Hampe J, Mirza MM., Saiz R, Lewis CM, Bridger S, Teare D, Easton DF, Herrmann T, Scott G, Hirst J, Sanderson J, Hodgson SV, Lee J, MacPherson A, Schreiber S, Lennard-Jones JE, Curran ME, Mathew CG. (2000) Analysis of single-nucleotide polymorphisms in the interleukin-4 receptor gene for association with inflammatory bowel disease. Immunogenet. 51, 1-7.

Dobson-Stone C, Cox RD, Lonie L, Southam L, Fraser M, Wise C, Bernier F, Hodgson S, Porter DE, Hamish A, Simpson RW, Monaco AP. (2000) Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostoses. Eur J Hum Genet. 8, 24-32.

Hodgson SV, Haites NE, Caligo M, Chang-Claude J, Eccles D, Evans G, Moller P, Morrison P, Steel CM., Stoppa-Lyonnet D, Vasen H. (2000) A survey of the current clinical facilities for the management of familial cancer in Europe. European Union BIOMED II Demonstration Project: Familial Breast Cancer: audit of a new development in medical practice in European centres. J Med Genet. 37, 605-607.

Woodford-Richens K, Bevan S, Churchman M, Dowling B, Jones D, Norbury CG, Hodgson SV, Desai D, Neale K, Phillips RK, Young J, Leggett B, Dunlop M, Rozen P, Eng C, Markie D, Rodriguez-Bigas MA, Sheridan E, Iwama T, Eccles D. Smith GT, Kim JC, Kim KM, Sampson JR, Evans G, Tejpar S, Bodmer WF, Tomlinson IPM, Houlston RS. (2000) Analysis of genetic and phenotypic heterogeneity in juvenile polyposis. Gut 46, 656-660.

Lai CSL, Fisher SE, Hurst JA, Levy ER, Hodgson SV, Fox M, Jeremiah S, Povey S, Jamison Curtis D, Green ED, Vargha-Khadem F, Monaco AP. (2000) The SPCH1 region on human 7q31: genomic characterization of the critical interval and localization of translocations associated with speech and language disorder. Am J Hum Genet. 67, 357-368.

Langford K, Hodgson S, Seller M, Maxwell D (2000) Pallister-Killian syndrome presenting through nuchal translucency screening for trisomy 21. Prenat Diagnosis 20, 670-672.

Woodford-Richens K, Williamson J, Bevan S, Young J, Leggett B, Frayling I, Thway Y, Hodgson S, Kim JC, Iwama T, Novelli M, Sheer D, Poulsom R, Wright N, Houlston R, Tomlinson I. (2000) Allelic loss at SMAD4 in polyps from juvenile polyposis patients and use of fluorescence in situ hybridization to demonstrate clonal origin of the epithelium. Cancer Res. 60, 2477-2482.

Warburton P, Baird G, Chen W, Morris K, Jacobs BW, Hodgson S, Docherty Z. (2000) Support for linkage of autism and specific language impairment to 7q3 from two chromosome rearrangements involving band 7q31. Am J Med Genet. 96, 228-234.

Hodgson S, Wilkinson M. (2000) Possibility of a dominant negative effect of some point mutations. Am J Med Genet. 93, 164.

Thiselton DL, Zito I, Plant C, Jay M, Hodgson SV, Bird AC, Bhattacharya SS, Hardcastle AJ. (2000) Novel frameshift mutations in the RP2 gene and polymorphic variants. Human Mutat. 15, 580.

Badzioch M, Eeles R, Leblanc G, Foulkes WD, Giles G, Edwards S, Goldgar D, Hopper JL, Bishop DT, Moller P, Heimdal K, Easton D, Simard J. (2000) The CRC/BPG UK Familial Prostate Cancer Study Coordinators and Collaborators, The EU Biomed Collaborators (2000) Suggestive evidence for a site specific prostate cancer gene on chromosome 1p36. J Med Genet. 37, 947-949.

Gayther SA, de Foy KA, Harrington P, Pharoah P, Dunsmuir WD, Edwards SM, Gillett C, Ardern-Jones A, Dearnaley DP, Easton DF, Ford D, Shearer RJ, Kirby RS, Dowe AL, Kelly J, Stratton MR, Ponder BA, Barnes D, Eeles RA, The Cancer Research Campaign/British Prostate Group United Kingdom Familial Prostate StudyCollaborators (2000) The frequency of germ-line mutations in the breast cancer predisposition genes BRCA1 and BRCA2 in familial prostate cancer. Cancer Res. 60, 4513-4518.

Forrest MS, Edwards SM, Hamoudi RA, Dearnaley DP, Arden-Jones A, Dowe A, Murkin A, Kelly J, Teare MD, Easton DF, Knowles MA, Bishop DT, Eeles RA. The CRC/BPG UK Familial Prostate Cancer Study Coordinators and Collaborators, The EU Biomed Collaborators (2000) No evidence of germline PTEN mutations in familial prostate cancer. J Med Genet. 37, 210-212.

Ellis D, Greenman J, Hodgson S, McCall S, Lalloo F, Cameron J, Izatt L, Scott G, Jacobs C, Watts S. Chorley W, Perrett C, Macdermot K, Mohammed S, Evans G, Mathew CG. (2000) Low prevalence of germline BRCA1 mutations in early onset breast cancer without a family history. J Med Genet. 37, 792-794.