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1. Fabry disease and incidence of cancer

Author

Sarah Bird, Efthymios Hadjimichael, Atul Mehta, Uma Ramaswami, and Derralynn Hughes

Subjects
Fabry disease, Lysosomal storage disorders, Haematology, Genetics, Cancer: Urological, Cancer: Dermatological, Medicine
Abstract

Abstract Background Fabry disease is an X-linked lysosomal storage disorder caused by deficient activity of α-galactosidase A and the resulting accumulation of the glycosphingolipid globotriaosylceramide (Gb3) and its derivatives, including globotriaosylsphingosine (Lyso-Gb3). Increased cellular and plasma levels of Gb3 and Lyso-Gb3 affect multiple organs, with specific clinical consequences for the kidneys, heart and brain. There is growing evidence that alterations in glycosphingolipids may have an oncogenic role and this prompted a review of cases of cancer and benign lesions in a large single centre cohort of Fabry patients. We also explored whether there is a difference in the risk of cancer in Fabry patients compared to the general population. Results Our results suggest that Fabry patients may have a marginally reduced rate of all cancer (incidence rate ratio 0.61, 95% confidence interval 0.37 to 0.99) but possibly increased rates of melanoma, urological malignancies and meningiomas. Conclusion Greater knowledge and awareness of cancer in patients with Fabry disease may help identify at-risk individuals and elucidate cancer mechanisms in this rare inherited disease, which may potentially be relevant to the wider cancer population.

Published
2017
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2. Fabry disease and incidence of cancer.

Author

Bird, Sarah, Hadjimichael, Efthymios, Mehta, Atul, Ramaswami, Uma, and Hughes, Derralynn

Subjects
*EPIDEMIOLOGY, *ANGIOKERATOMA corporis diffusum, *CARCINOGENS, *LEUCOCYTE elastase, *GLYCOSPHINGOLIPIDS
Abstract

Background: Fabry disease is an X-linked lysosomal storage disorder caused by deficient activity of α-galactosidase A and the resulting accumulation of the glycosphingolipid globotriaosylceramide (Gb3) and its derivatives, including globotriaosylsphingosine (Lyso-Gb3). Increased cellular and plasma levels of Gb3 and Lyso-Gb3 affect multiple organs, with specific clinical consequences for the kidneys, heart and brain. There is growing evidence that alterations in glycosphingolipids may have an oncogenic role and this prompted a review of cases of cancer and benign lesions in a large single centre cohort of Fabry patients. We also explored whether there is a difference in the risk of cancer in Fabry patients compared to the general population.Results: Our results suggest that Fabry patients may have a marginally reduced rate of all cancer (incidence rate ratio 0.61, 95% confidence interval 0.37 to 0.99) but possibly increased rates of melanoma, urological malignancies and meningiomas.Conclusion: Greater knowledge and awareness of cancer in patients with Fabry disease may help identify at-risk individuals and elucidate cancer mechanisms in this rare inherited disease, which may potentially be relevant to the wider cancer population. [ABSTRACT FROM AUTHOR]

Published
2017
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3. Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers

Author

Danielle Bodmer, C.A. Hulsbergen-van de Kaa, J.H.J.M. van Krieken, J.A. Witjes, Lambertus A. Kiemeney, Carolien M. Kets, Nicoline Hoogerbrugge, M.J.L. Ligtenberg, L Schaap, and R S van der Post

Subjects
Male, Genetics and epigenetic pathways of disease [NCMLS 6], Colorectal cancer, gastroenterology, Kaplan-Meier Estimate, Aetiology, screening and detection [ONCOL 5], Gastroenterology, Risk Factors, Genetics (clinical), Nuclear Proteins, Middle Aged, Immunohistochemistry, Lynch syndrome, Pedigree, MutS Homolog 2 Protein, urothelial cancer, bladder cancer, Original Article, Female, MutL Protein Homolog 1, Adult, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, HNPCC, cancer: urological, MLH1, Molecular epidemiology [NCEBP 1], Translational research [ONCOL 3], Internal medicine, Genetics, medicine, Humans, Genetic Predisposition to Disease, neoplasms, MSI, Adaptor Proteins, Signal Transducing, Aged, Bladder cancer, Hereditary cancer and cancer-related syndromes [ONCOL 1], business.industry, Carcinoma, Microsatellite instability, Cancer, nutritional and metabolic diseases, genetic screening/counselling, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, digestive system diseases, MSH6, Urinary Bladder Neoplasms, MSH2, Evaluation of complex medical interventions [NCEBP 2], Mutation, Urothelium, business, clinical genetics
Abstract

Contains fulltext : 89346.pdf (Publisher’s version ) (Open Access) BACKGROUND: Colorectal, endometrial and upper urinary tract tumours are characteristic for Lynch syndrome (hereditary non-polyposis colon carcinoma, HNPCC). The aim of the present study was to establish whether carriers of mutations in mismatch repair genes MLH1, MSH2 or MSH6 are at increased risk of urinary bladder cancer. METHODS: Carriers and first degree relatives of 95 families with a germline mutation in the MLH1 (n=26), MSH2 (n=43), or MSH6 (n=26) gene were systematically questioned about the occurrence of carcinoma. The cumulative risk of cancer occurring before the age of 70 years (CR70) was compared to the CR70 of the general Dutch population. Microsatellite instability (MSI) testing and/or immunohistochemistry (IHC) for mismatch repair proteins was performed on bladder tumour tissue. RESULTS: Bladder cancer was diagnosed in 21 patients (90% men) from 19 Lynch syndrome families (2 MLH1, 15 MSH2, and 4 MSH6). CR70 for bladder cancer was 7.5% (95% CI 3.1% to 11.9%) for men and 1.0% (95% CI 0% to 2.4%) for women, resulting in relative risks for mutation carriers and first degree relatives of 4.2 (95% CI 2.2 to 7.2) for men and 2.2 (95% CI 0.3 to 8.0) for women. Men carrying an MSH2 mutation and their first degree relatives were at highest risks: CR70 for bladder and upper urinary tract cancer being 12.3% (95% CI 4.3% to 20.3%) and 5.9% (95% CI 0.7% to 11.1%). Bladder cancer tissue was MSI positive in 6/7 tumours and loss of IHC staining was found in 14/17 tumours, indicating Lynch syndrome aetiology. CONCLUSION: Patients with Lynch syndrome carrying an MSH2 mutation are at increased risk of urinary tract cancer including bladder cancer. In these cases surveillance should be considered. 01 juli 2010

Published
2010

4. A genome-wide association study of men with symptoms of testicular dysgenesis syndrome and its network biology interpretation

Author

Jorma Toppari, John E Nielsen, Gabriella Cohn-Cedermark, Marlene D. Dalgaard, Daniel Edsgärd, Gedske Daugaard, Jeremy D. Silver, Thomas Skøt Jensen, Ewa Rajpert-De Meyts, Yvonne Lundberg Giwercman, Tune H. Pers, Søren Brunak, Helena E. Virtanen, Thomas A. Gerds, Aleksander Giwercman, Henrik Leffers, Niels E Skakkebk, Niels Jørgensen, Nils Weinhold, Ramneek Gupta, and Anders Juul

Subjects
Male, Bone Morphogenetic Protein 7, Gonadal dysgenesis, Gene Expression, Genome-wide association study, Bioinformatics, Gonadal Dysgenesis, Linkage Disequilibrium, Male infertility, Cohort Studies, genome-wide, 0302 clinical medicine, Testis, GWAS, genetics, Protein Interaction Maps, Genetics (clinical), Genetics, 0303 health sciences, Stem Cell Factor, diabetes, systems biology, Neoplasms, Germ Cell and Embryonal, 3. Good health, 030220 oncology & carcinogenesis, oncology, Medical genetics, Proteoglycans, epidemiology, infertility, SNP array, reproductive medicine, Adult, Genetic Markers, medicine.medical_specialty, genetic epidemiology, Genotype, testis cancer, Biology, cancer: urological, Polymorphism, Single Nucleotide, 03 medical and health sciences, endocrinology, SDG 3 - Good Health and Well-being, Testicular Neoplasms, medicine, Humans, developmental, Genetic Predisposition to Disease, chromosomal, Testicular cancer, TDS, 030304 developmental biology, Complex Traits, Case-control study, Cancer, medicine.disease, Case-Control Studies, Receptors, Transforming Growth Factor beta, Genome-Wide Association Study
Abstract

Background Testicular dysgenesis syndrome (TDS) is a common disease that links testicular germ cell cancer, cryptorchidism and some cases of hypospadias and male infertility with impaired development of the testis. The incidence of these disorders has increased over the last few decades, and testicular cancer now affects 1% of the Danish and Norwegian male population. Methods To identify genetic variants that span the four TDS phenotypes, the authors performed a genome-wide association study (GWAS) using Affymetrix Human SNP Array 6.0 to screen 488 patients with symptoms of TDS and 439 selected controls with excellent reproductive health. Furthermore, they developed a novel integrative method that combines GWAS data with other TDS-relevant data types and identified additional TDS markers. The most significant findings were replicated in an independent cohort of 671 Nordic men. Results Markers located in the region of TGFBR3 and BMP7 showed association with all TDS phenotypes in both the discovery and replication cohorts. An immunohistochemistry investigation confirmed the presence of transforming growth factor beta receptor type III (TGFBR3) in peritubular and Leydig cells, in both fetal and adult testis. Single-nucleotide polymorphisms in the KITLG gene showed significant associations, but only with testicular cancer. Conclusions The association of single-nucleotide polymorphisms in the TGFBR3 and BMP7 genes, which belong to the transforming growth factor b signalling pathway, suggests a role for this pathway in the pathogenesis of TDS. Integrating data from multiple layers can highlight findings in GWAS that are biologically relevant despite having border significance at currently accepted statistical levels.

Published
2011
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5. Novel FH mutations in families with hereditary leiomyomatosis renal cell cancer (HLRCC) and in patients with isolated type 2 papillary renal cell carcinoma

Author

Catherine Dugast, Christelle Pruvost-Balland, Dan Lipsker, Nicolas Janin, Isabelle Coupier, Isabelle Mortemousque, Sophie Deveaux, Brigitte Gilbert-Dussardier, Laurence Faivre, Pierre Vabres, Emmanuel Van Glabeke, Hélène Dollfus, Min-Han Tan, Dominique Leroux, Pierre Rustin, Bernard Escudier, Marie-Françoise Avril, Joelle Roume, Veronica Cusin, Virginie Verkarre, Johny Bombled, Luc Thomas, Felicia Malthieu, Betty Gardie, Jean Feunteun, Darouna Kattygnarath, Jean -Baptiste Meric, Arnaud Mejean, Ghislaine Plessis, Olivier Caron, Victoria Perrier-Trudova, Stéphane Richard, Frédéric Caux, Virginie Joulin, Gilbert M. Lenoir, Abdelhamid Slama, Christine Maugard, Serena Rooker, Michel Barrois, Sandrine Lefevre, Brigitte Bressac-de Paillerets, Audrey Remenieras, Christine Theodore, Didier Bessis, Michelle Steinraths, Michel Field, Bruce Poppe, Yves Leport, Carol Cremin, Patrick Collignon, Barbara McGilliwray, Nadem Soufir, Bin Tean Teh, Cytokines et Immunologie des Tumeurs Humaines (U753), Université Paris-Sud - Paris 11 (UP11)-Institut Gustave Roussy (IGR)-Institut National de la Santé et de la Recherche Médicale (INSERM), Onco-génétique, Département de médecine oncologique [Gustave Roussy], Institut Gustave Roussy (IGR)-Institut Gustave Roussy (IGR), Hématopoïèse normale et pathologique, Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Gustave Roussy (IGR)-Université Paris-Sud - Paris 11 (UP11), Physiopathologie, conséquences fonctionnelles et neuroprotection des atteintes du cerveau en développement, Université Paris Diderot - Paris 7 (UPD7)-IFR2-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire de Biochimie, Hôpital de Bicêtre, AP-HP, Le Kremlin-Bicêtre, Service de Dermatologie [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Dermatologie, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Institut Gustave Roussy (IGR), Service de dermatologie [Avicenne], Hôpital Avicenne [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris 13 (UP13), Service de Génétique Médicale, Centre Hospitalier Intercommunal, Toulon, Service d'Oncogénétique et Génétique Médicale, BC Cancer Agency, Vancouver, Service de Génétique Médicale, Hôpital Civil, Strasbourg, Consultation d'Oncogénétique, CHU, Rennes, Département d'immunothérapie, Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Genetic Services, Royal North Shore Hospital, St Leonards, Service de Génétique, CHU, Poitiers, Centre hospitalier universitaire de Poitiers (CHU Poitiers), Département de Génétique, CHU, Liège, Cabinet de Dermatologie, Vire, Service d'onco-hématologie et génétique, CHU Grenoble, Service de Dermatologie, Hôpital Civil, Strasbourg, Centre médico-chirurgical Atlantique, Puilboreau, Laboratoire de diagnostic génétique, Hôpital Universitaire de Strasbourg, Strasbourg, Service d'urologie [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-CHU Necker - Enfants Malades [AP-HP], Service de Génétique Médicale, Hôpital Bretonneau, Tours, Service de Génétique [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Center for Medical Genetics, Universiteit Gent, Gand, Service de Dermatologie, Hôpital Saint Louis, AP-HP, Paris, Molecular Genetics Laboratory, Capital Coasts DHB, Wellington South, Consultation de Génétique Médicale, Hôpital Ambroise Paré, AP-HP, Boulogne, Consultation de Génétique, Hôpital Bichat-Claude Bernard, AP-HP, Paris, Division of Medical Genetics,Victoria General Hospital, Victoria, BC, Department of Medical Oncology, National Cancer Centre, Service d'Oncologie Médicale, Hôpital Foch, Suresnes, Service de Dermatologie, Centre Hospitalier Sud, Hospices Civils, Lyon, Service de Dermatologie (CHU de Dijon), Service d'Urologie, Hôpital André Grégoire, Service d'Onco-Hématologie, Centre Médical de Bligny, Briis sous Forges, CHU Necker - Enfants Malades [AP-HP], Stabilité Génétique et Oncogenèse (UMR 8200), Université Paris-Sud - Paris 11 (UP11)-Institut Gustave Roussy (IGR)-Centre National de la Recherche Scientifique (CNRS), Centre Expert National Cancer Rares PREDIR, Service d'Urologie, CHU de Bicêtre, Le Kremlin-Bicêtre, Van Andel Research Institute, Grand Rapids, Michigan, Van Andel Institute [Grand Rapids], Génétique Oncologique EPHE, Faculté de Médecine Paris-Sud, Le Kremlin-Bicêtre, Peer, Hal, Université Paris 13 (UP13)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Avicenne [AP-HP], and Universiteit Gent = Ghent University (UGENT)

Subjects
Adult, Male, Proband, Skin Neoplasms, Genotype, Mutation, Missense, Biology, Bioinformatics, urologic and male genital diseases, Fumarate Hydratase, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, INDEL Mutation, Neoplastic Syndromes, Hereditary, Cell Line, Tumor, Leiomyomatosis, medicine, Genetics, Humans, Missense mutation, Molecular genetics, Frameshift Mutation, Carcinoma, Renal Cell, Germ-Line Mutation, Genetics (clinical), Aged, 030304 developmental biology, Gene Rearrangement, 0303 health sciences, Papillary renal cell carcinomas, Cancer, Middle Aged, medicine.disease, Penetrance, Kidney Neoplasms, Pedigree, 3. Good health, Codon, Nonsense, 030220 oncology & carcinogenesis, Mutation, Uterine Neoplasms, Cancer research, Cancer: urological, Female, Hereditary leiomyomatosis and renal cell carcinoma, Kidney cancer, Gene Deletion
Abstract

International audience; Background Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant disorder predisposing humans to cutaneous and uterine leiomyomas; in 20% of affected families, type 2 papillary renal cell cancers (PRCCII) also occur with aggressive course and poor prognosis. HLRCC results from heterozygous germline mutations in the tumor suppressor fumarate hydratase (FH) gene. Methods As part of the French National Cancer Institute (INCa) "Inherited predispositions to kidney cancer" network, we performed sequence analysis and a functional study of FH in 56 families with clinically proven or suspected HLRCC and in 23 patients with isolated PRCCII (5 familial and 18 sporadic). Results We identified 32 different germline FH mutations (15 missense, six frameshifts, four nonsense, one deletion/insertion, five splice site and one complete deletion) in 40/56 (71.4%) families with proven or suspected HLRCC and in 4/23 (17.4%) probands with PRCCII alone, including 2 sporadic cases. Twenty-one of these were novel and all were demonstrated as deleterious by significant reduction of FH enzymatic activity. In addition, five asymptomatic parents in three families were confirmed as carrying disease-causing mutations. Conclusions This study identified and characterized 21 novel FH mutations and demonstrated that PRCCII can be the only one manifestation of HLRCC. Due to the incomplete penetrance of HLRCC, we propose to extend the FH mutation analysis to every patient with PRCCII occurring before 40 yrs of age or when renal tumor harbors characteristic histologic features, in order to discover previously ignored HLRCC-affected families.

Published
2011
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6. A germline mutation in PBRM1 predisposes to renal cell carcinoma.

Author

Benusiglio PR, Couvé S, Gilbert-Dussardier B, Deveaux S, Le Jeune H, Da Costa M, Fromont G, Memeteau F, Yacoub M, Coupier I, Leroux D, Méjean A, Escudier B, Giraud S, Gimenez-Roqueplo AP, Blondel C, Frouin E, Teh BT, Ferlicot S, Bressac-de Paillerets B, Richard S, and Gad S

Subjects
Carcinoma, Renal Cell diagnosis, DNA Mutational Analysis, DNA-Binding Proteins, Exons, Female, Heterozygote, Humans, Immunohistochemistry, Kidney Neoplasms diagnosis, Male, Nuclear Proteins metabolism, Pedigree, Transcription Factors metabolism, Carcinoma, Renal Cell genetics, Genetic Predisposition to Disease, Germ-Line Mutation, Kidney Neoplasms genetics, Nuclear Proteins genetics, Transcription Factors genetics
Abstract

Background: Many cases of familial renal cell carcinoma (RCC) remain unexplained by mutations in the known predisposing genes or shared environmental factors. There are therefore additional, still unidentified genes involved in familial RCC. PBRM1 is a tumour suppressor gene and somatic mutations are found in 30-45% of sporadic clear cell (cc) RCC., Methods: We selected 35 unrelated patients with unexplained personal history of ccRCC and at least one affected first-degree relative, and sequenced the PBRM1 gene., Results: A germline frameshift mutation (c.3998_4005del [p.Asp1333Glyfs]) was found in one patient. The patient's mother, his sister and one niece also had ccRCC. The mutation co-segregated with the disease as the three affected relatives were carriers, while an unaffected sister was not, according with autosomal-dominant transmission. Somatic studies supported these findings, as we observed both loss of heterozygosity for the mutation and loss of protein expression in renal tumours., Conclusions: We show for the first time that an inherited mutation in PBRM1 predisposes to RCC. International studies are necessary to estimate the contribution of PBRM1 to RCC susceptibility, estimate penetrance and then integrate the gene into routine clinical practice., (Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.)

Published
2015
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7. Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers.

Author

Van der Post, R. S., Kiemeney, L. A., Witjes, J. A., Hulsbergen-van de Kaa, C. A., Bodmer, D., Schaap, L., Kets, C. M., Van Krieken, J. H. J. M., and Hoogerbrugge, N.

Subjects
COLON cancer, ENDOMETRIAL cancer, URINARY organ cancer, LYNCH syndrome II, MICROSATELLITE repeats, MEDICAL genetics
Abstract

Background Colorectal, endometrial and upper urinary tract tumours are characteristic for Lynch syndrome (hereditary non-polyposis colon carcinoma, HNPCC). The aim of the present study was to establish whether carriers of mutations in mismatch repair genes MLH1, MSH2 or MSH6 are at increased risk of urinary bladder cancer. Methods Carriers and first degree relatives of 95 families with a germline mutation in the MLH1 (n=26), MSH2 (n=43), or MSH6 (n=26) gene were systematically questioned about the occurrence of carcinoma. The cumulative risk of cancer occurring before the age of 70 years (CR70) was compared to the CR70 of the general Dutch population. Microsatellite instability (MSI) testing and/or immunohistochemistry (IHC) for mismatch repair proteins was performed on bladder tumour tissue. Results Bladder cancer was diagnosed in 21 patients (90% men) from 19 Lynch syndrome families (2 MLH1, 15 MSH2, and 4 MSH6). CR70 for bladder cancer was 7.5% (95% CI 3.1% to 11.9%) for men and 1.0% (95% CI 0% to 2.4%) for women, resulting in relative risks for mutation carriers and first degree relatives of 4.2 (95% CI 2.2 to 7.2) for men and 2.2 (95% CI 0.3 to 8.0) for women. Men carrying an MSH2 mutation and their first degree relatives were at highest risks: CR70 for bladder and upper urinary tract cancer being 12.3% (95% CI 4.3% to 20.3%) and 5.9% (95% CI 0.7% to 11.1%). Bladder cancer tissue was MSI positive in 6/7 tumours and loss of IHC staining was found in 14/17 tumours, indicating Lynch syndrome aetiology. Conclusion Patients with Lynch syndrome carrying an MSH2 mutation are at increased risk of urinary tract cancer including bladder cancer. In these cases surveillance should be considered. [ABSTRACT FROM AUTHOR]

Published
2010
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