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1. Sequence variants at the TERT-CLPTM1L locus associate with many cancer types

Author

Donghui Kan, Jack A. Schalken, Hafsteinn Saemundsson, Sebastian Navarrete, Onno van Hooij, Bjarni A. Agnarsson, D. Timothy Bishop, Gunnar Steineck, Johan Hansson, Rafn Ragnarsson, Thorunn Rafnar, Halla Skuladottir, Alejandro Tres, Eirikur Jonsson, Katja K H Aben, Eliane Kellen, Augustine Kong, Rafael Botella-Estrada, René A Termeer, Javier Banzo, Sigurborg Matthiasdottir, Henricus F. M. van der Heijden, Margret Jakobsdottir, Anna Salvarsdottir, Jose I. Mayordomo, Stefano Porru, Bardur Sigurgeirsson, Hafdis T. Helgadottir, Annika Lindblom, Giuseppe Matullo, Asgeir Sigurdsson, Gudmundur V. Einarsson, Frank Geller, Daniel F. Gudbjartsson, William J. Catalona, Steinunn Thorlacius, Rosa B. Barkardottir, Anne E. Kiltie, Rajesh Kumar, Unnur Thorsteinsdottir, Tomas Gudbjartsson, Maurice P. Zeegers, Berta Saez, Lambertus A. Kiemeney, Margret Asgeirsdottir, Helgi J Isaksson, Kari T. Kristinsson, Peter Rudnai, Jón Ólafsson, Steinn Jonsson, Kristin Thorisdottir, Gisli Masson, Petra J. de Verdier, Femmie de Vegt, Karl Olafsson, Paolo Vineis, Kvetoslava Koppova, Veronica Höiom, Hans J Smit, Jeffrey R. Gulcher, Silvia Polidoro, Thorvaldur Jonsson, Eduardo Nagore, Thorarinn Blondal, Thorgeir E. Thorgeirsson, Kristrun R. Benediktsdottir, Hjordis Bjarnason, Michael L. Frigge, Maria Vidal, Steinunn G Sveinsdottir, Raquel Andrés, Egbert Oosterwijk, Frank Buntinx, Gudmar Thorleifsson, Patrick Sulem, Pablo Juberías, Simon N. Stacey, Eugene Gurzau, Marcello Campagna, Kari Stefansson, Kristleifur Kristjansson, Ana Ferrer, Dolores Isla, Julius Gudmundsson, Kari Hemminki, deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland. thorunn.rafnar@decode.is, Populatie Genetica, Huisartsgeneeskunde, and RS: NUTRIM - R4 - Gene-environment interaction

Subjects
CLPTM1L, Male, Telomerase, Skin Neoplasms, Genetics and epigenetic pathways of disease [NCMLS 6], Colorectal cancer, Genome-wide association study, Aetiology, screening and detection [ONCOL 5], BASAL-CELL CARCINOMA, Linkage Disequilibrium, COLORECTAL-CANCER, Prostate cancer, GENOME-WIDE ASSOCIATION, PROSTATE-CANCER, LUNG-CANCER, TELOMERE LENGTH, BREAST-CANCER, SUSCEPTIBILITY LOCUS, COMMON VARIANTS, RISK-FACTOR, 0302 clinical medicine, Gene Frequency, Immune Regulation [NCMLS 2], Neoplasms, Genetics, 0303 health sciences, cancer, genome-wide association study, TERT, Middle Aged, Neoplasm Proteins, 3. Good health, 030220 oncology & carcinogenesis, Female, Quantitative Trait Loci, Biology, Polymorphism, Single Nucleotide, Article, Molecular epidemiology [NCEBP 1], 03 medical and health sciences, Breast cancer, Translational research [ONCOL 3], medicine, Humans, Genetic Predisposition to Disease, Telomerase reverse transcriptase, Lung cancer, Aged, 030304 developmental biology, Hereditary cancer and cancer-related syndromes [ONCOL 1], Carcinoma, Membrane Proteins, Cancer, medicine.disease, Carcinoma, Basal Cell, Case-Control Studies, Cancer research, Genome-Wide Association Study
Abstract

Contains fulltext : 81560.pdf (Publisher’s version ) (Closed access) The common sequence variants that have recently been associated with cancer risk are particular to a single cancer type or at most two. Following up on our genome-wide scan of basal cell carcinoma, we found that rs401681[C] on chromosome 5p15.33 satisfied our threshold for genome-wide significance (OR = 1.25, P = 3.7 x 10(-12)). We tested rs401681 for association with 16 additional cancer types in over 30,000 cancer cases and 45,000 controls and found association with lung cancer (OR = 1.15, P = 7.2 x 10(-8)) and urinary bladder, prostate and cervix cancer (ORs = 1.07-1.31, all P < 4 x 10(-4)). However, rs401681[C] seems to confer protection against cutaneous melanoma (OR = 0.88, P = 8.0 x 10(-4)). Notably, most of these cancer types have a strong environmental component to their risk. Investigation of the region led us to rs2736098[A], which showed stronger association with some cancer types. However, neither variant could fully account for the association of the other. rs2736098 corresponds to A305A in the telomerase reverse transcriptase (TERT) protein and rs401681 is in an intron of the CLPTM1L gene.

Published
2009
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2. ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma

Author

Thorunn Rafnar, Johan Hansson, Daniel F. Gudbjartsson, Raquel Andrés, Pablo Juberías, Margret Jakobsdottir, Solveig Gretarsdottir, Jeffrey R. Gulcher, Konstantinos Kostulas, Bardur Sigurgeirsson, Berta Saez, Kristin Thorisdottir, Rajesh Kumar, Jón Ólafsson, Margaret A. Tucker, Patrick Sulem, Veronica Magnusson, Kari Stefansson, Dominique Scherer, Simon N. Stacey, Eugene Gurzau, Stacy Steinberg, Augustine Kong, Eduardo Nagore, Lambertus A. Kiemeney, Peter Rudnai, Kristrun R. Benediktsdottir, Rafael Botella-Estrada, Annika Lindblom, Kvetoslava Koppova, Unnur Thorsteinsdottir, Matilde Grasa, Virtudes Soriano, Agnar Helgason, Steinunn G Sveinsdottir, Jose I. Mayordomo, Rafn Ragnarsson, and Alisa M. Goldstein

Subjects
Adult, Skin Neoplasms, Adolescent, Aetiology, screening and detection [ONCOL 5], Biology, Polymorphism, Single Nucleotide, Molecular epidemiology [NCEBP 1], Gene Frequency, Translational research [ONCOL 3], Genetics, medicine, Eye color, Odds Ratio, Humans, Basal cell carcinoma, Genetic Predisposition to Disease, TYRP1, Registries, Neoplasm Metastasis, Melanoma, Genetic association, Aged, Molecular diagnosis, prognosis and monitoring [UMCN 1.2], Aged, 80 and over, Membrane Glycoproteins, Eye Color, Hereditary cancer and cancer-related syndromes [ONCOL 1], integumentary system, Monophenol Monooxygenase, Pigmentation, Haplotype, Cancer, Odds ratio, Middle Aged, medicine.disease, Molecular biology, Europe, Carcinoma, Basal Cell, Case-Control Studies, Cutaneous melanoma, Agouti Signaling Protein, Oxidoreductases, Receptor, Melanocortin, Type 1
Abstract

Contains fulltext : 69041.pdf (Publisher’s version ) (Closed access) Fair color increases risk of cutaneous melanoma (CM) and basal cell carcinoma (BCC). Recent genome-wide association studies have identified variants affecting hair, eye and skin pigmentation in Europeans. Here, we assess the effect of these variants on risk of CM and BCC in European populations comprising 2,121 individuals with CM, 2,163 individuals with BCC and over 40,000 controls. A haplotype near ASIP, known to affect a similar spectrum of pigmentation traits as MC1R variants, conferred significant risk of CM (odds ratio (OR) = 1.45, P = 1.2 x 10(-9)) and BCC (OR = 1.33, P = 1.2 x 10(-6)). The variant in TYR encoding the R402Q amino acid substitution, previously shown to affect eye color and tanning response, conferred risk of CM (OR = 1.21, P = 2.8 x 10(-7)) and BCC (OR = 1.14, P = 6.1 x 10(-4)). An eye color variant in TYRP1 was associated with risk of CM (OR = 1.15, P = 4.6 x 10(-4)). The association of all three variants is robust with respect to adjustment for the effect of pigmentation.

Published
2008

4. [Primary cutaneous diffuse large B-cell lymphoma, leg type]

Author

Cristina, Corredera Carrión, Victoria, Fuentelsaz Del Barrio, Pablo, Juberías Gutiérrez, Victoria, Lezcano Biosca, Mariano, Ara Martin, and Francisco José, Carapeto

Subjects
Aged, 80 and over, Skin Neoplasms, Humans, Female, Lymphoma, Large B-Cell, Diffuse
Published
2009

5. New common variants affecting susceptibility to basal cell carcinoma

Author

Rajesh Kumar, Katja K H Aben, Kvetoslava Koppova, Berta Saez, Licia Rivoltini, Annika Lindblom, Kristin Thorisdottir, Daniel F. Gudbjartsson, Kristleifur Kristjansson, Julius Gudmundsson, Kari Hemminki, Ichiro Okamoto, Bardur Sigurgeirsson, Kari Stefansson, Yolanda Gilaberte, Johan Hansson, Maria G Di Mauro, Veronica Höiom, Jona Saemundsdottir, Pablo Juberías, Johannes J. Bonenkamp, Sigurjon A. Gudjonsson, Eduardo Nagore, Monica Rodolfo, Thorarinn Blondal, Rafn Ragnarsson, Margaret R. Karagas, Margret Jakobsdottir, Lambertus A. Kiemeney, Unnur Thorsteinsdottir, Andrea Maurichi, Solveig Gretarsdottir, Judith Wendt, Rafael Botella-Estrada, Kristrun R. Benediktsdottir, Thorunn Rafnar, Peter Rudnai, Hubert Pehamberger, Pia Hochleitner, Droplaug N Magnusdottir, Cristina Corredera, Heather H. Nelson, Asgeir Sigurdsson, Gyda Bjornsdottir, Gisli Masson, Hjordis Bjarnason, Mario Santinami, Jón Ólafsson, Esther de Vries, Hilma Holm, Matilde Grasa, Michael L. Frigge, Valgerdur Steinthorsdottir, Gudmar Thorleifsson, Michelle M. van Rossum, Jeffrey R Gulcher, Simon N. Stacey, Eugene Gurzau, Patrick Sulem, Dominique Scherer, Jose I. Mayordomo, Augustine Kong, Victoria Fuentelsaz, Virtudes Soriano, and Public Health

Subjects
SLC45A2, Skin Neoplasms, Molecular Sequence Data, Locus (genetics), Single-nucleotide polymorphism, Genome-wide association study, Coronary Artery Disease, Aetiology, screening and detection [ONCOL 5], Biology, Polymorphism, Single Nucleotide, Auto-immunity, transplantation and immunotherapy [N4i 4], Article, Linkage Disequilibrium, Molecular epidemiology [NCEBP 1], CDKN2A, Translational research [ONCOL 3], CDKN2B, Genetics, medicine, Humans, Basal cell carcinoma, Genetic Predisposition to Disease, Melanoma, neoplasms, integumentary system, Hereditary cancer and cancer-related syndromes [ONCOL 1], Membrane Proteins, medicine.disease, Molecular biology, Neoplasm Proteins, Keratin 5, Carcinoma, Basal Cell, biology.protein, Carcinoma, Squamous Cell, Keratin-5, Chromosomes, Human, Pair 9, Chromosomes, Human, Pair 7, Genome-Wide Association Study
Abstract

Contains fulltext : 81164.pdf (Publisher’s version ) (Closed access) In a follow-up to our previously reported genome-wide association study of cutaneous basal cell carcinoma (BCC), we describe here several new susceptibility variants. SNP rs11170164, encoding a G138E substitution in the keratin 5 (KRT5) gene, affects risk of BCC (OR = 1.35, P = 2.1 x 10(-9)). A variant at 9p21 near CDKN2A and CDKN2B also confers susceptibility to BCC (rs2151280[C]; OR = 1.19, P = 6.9 x 10(-9)), as does rs157935[T] at 7q32 near the imprinted gene KLF14 (OR = 1.23, P = 5.7 x 10(-10)). The effect of rs157935[T] is dependent on the parental origin of the risk allele. None of these variants were found to be associated with melanoma or fair-pigmentation traits. A melanoma- and pigmentation-associated variant in the SLC45A2 gene, L374F, is associated with risk of both BCC and squamous cell carcinoma. Finally, we report conclusive evidence that rs401681[C] in the TERT-CLPTM1L locus confers susceptibility to BCC but protects against melanoma.

Published
2009

6. Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits

Author

Jon Thor Bergthorsson, Eduardo Nagore, Kristrun R. Benediktsdottir, Kari Stefansson, Veronica Höiom, Yolanda Gilaberte, Rafn Ragnarsson, Theodora Thorlacius, Johan Hansson, Rajesh Kumar, Agnar Helgason, Francisco José Carapeto, Frank Geller, Simon N. Stacey, Jona Saemundsdottir, Eugene Gurzau, Daniel F. Gudbjartsson, Jón Ólafsson, Gudbjorn F. Jonsson, Asgeir Sigurdsson, Steinunn Thorlacius, Aslaug Jonasdottir, Rafael Botella-Estrada, Margret Jakobsdottir, Patrick Sulem, Jose I. Mayordomo, Thorarinn Blondal, Steinunn G Sveinsdottir, Bardur Sigurgeirsson, Unnur Thorsteinsdottir, Gyda Bjornsdottir, Pablo Juberías, Dominique Scherer, Magali Mouy, Gudmar Thorleifsson, Pilar Tabuenca, Virtudes Soriano, Thorunn Rafnar, Kristin Thorisdottir, Augustine Kong, Matilde Grasa, Kvetoslava Koppova, Peter Rudnai, Kristleifur Kristjansson, Julius Gudmundsson, and Sigurjon A. Gudjonsson

Subjects
Adult, Aging, Skin Neoplasms, Adolescent, Chromosomal Proteins, Non-Histone, Biology, Polymorphism, Single Nucleotide, Quantitative Trait, Heritable, Genetics, medicine, Guanine Nucleotide Exchange Factors, Humans, Basal cell carcinoma, Genetic Predisposition to Disease, Melanoma, Alleles, Aged, Aged, 80 and over, Models, Genetic, Pigmentation, Cancer, Middle Aged, medicine.disease, Adipose Tissue, Carcinoma, Basal Cell, Chromosomes, Human, Pair 1, Mutation, Cancer research, Carcinoma, Squamous Cell, RNA
Abstract

To search for new sequence variants that confer risk of cutaneous basal cell carcinoma (BCC), we conducted a genome-wide SNP association study of 930 Icelanders with BCC and 33,117 controls. After analyzing 304,083 SNPs, we observed signals from loci at 1p36 and 1q42, and replicated these associations in additional sample sets from Iceland and Eastern Europe. Overall, the most significant signals were from rs7538876 on 1p36 (OR = 1.28, P = 4.4 x 10(-12)) and rs801114 on 1q42 (OR = 1.28, P = 5.9 x 10(-12)). The 1p36 locus contains the candidate genes PADI4, PADI6, RCC2 and ARHGEF10L, and the gene nearest to the 1q42 locus is the ras-homolog RHOU. Neither locus was associated with fair pigmentation traits that are known risk factors for BCC, and no risk was observed for melanoma. Approximately 1.6% of individuals of European ancestry are homozygous for both variants, and their estimated risk of BCC is 2.68 times that of noncarriers.

Published
2008

7. Linfoma primario cutáneo de células grandes B difuso de las piernas

Author

Francisco José Carapeto, Pablo Juberías Gutiérrez, Victoria Lezcano Biosca, Victoria Fuentelsaz Del Barrio, Mariano Ara Martín, and Cristina Corredera Carrión

Subjects
business.industry, Medicine, General Medicine, business, Nuclear medicine
Abstract

Mujer de 81 anos que presentaba placas y tumoraciones eritematoviolaceas e infiltradas, asintomaticas, de 8 meses de evolucion en la pierna derecha (fig. 1). La biopsia cutanea mostro un infiltrado denso y difuso de celulas linfoides centroblasticas (fig. 2A) e inmunoblasticas (fig. 2B), con estudio inmunohistoquimico confirmatorio de estirpe linfoide B: CD79a y CD20 positivos (fig. 2C y D). Tras descartar afectacion sistemica, se administro tratamiento quimioterapeutico con regimen CHOP (ciclofosfamida, doxorrubicina, vincristina y prednisona) mas rituximab, con remision clinica completa de las lesiones, que no han redicivado tras 6 meses de seguimiento (fig. 3).

Published
2009
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8. Erratum: Corrigendum: ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma

Author

Matilde Grasa, Virtudes Soriano, Pablo Juberías, Agnar Helgason, Annika Lindblom, Steinunn G Sveinsdottir, Rafael Botella-Estrada, Rajesh Kumar, Bardur Sigurgeirsson, Dominique Scherer, Patrick Sulem, Kari Stefansson, Kristin Thorisdottir, Jeffrey R. Gulcher, Eduardo Nagore, Kvetoslava Koppova, Kristrun R. Benediktsdottir, Jón Ólafsson, Simon N. Stacey, Eugene Gurzau, Lambertus A. Kiemeney, Unnur Thorsteinsdottir, Johan Hansson, Augustine Kong, Margret Jakobsdottir, Raquel Andrés, Margaret A. Tucker, Solveig Gretarsdottir, Stacy Steinberg, Veronica Magnusson, Konstantinos Kostulas, Peter Rudnai, Daniel F. Gudbjartsson, Thorunn Rafnar, Rafn Ragnarsson, Alisa M. Goldstein, Jose I. Mayordomo, and Berta Saez

Subjects
Genetics, Cutaneous melanoma, medicine, Cancer research, Basal cell carcinoma, sense organs, Biology, medicine.disease, neoplasms
Abstract

Corrigendum: ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma

Published
2008
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