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3. Relatives from hereditary breast and ovarian cancer and lynch syndrome families forgoing genetic testing: findings from the Swiss CASCADE cohort

Author

Sarki, M., Ming, C., Aceti, M., Fink, G., Aissaoui, S., Bürki, N., Graffeo, R., Heinimann, K., Caiata Zufferey, M., Monnerat, C., Rabaglio, M., Zürrer-Härdi, U., Chappuis, P. O., Katapodi, M. C., and The Cascade Consortium

Subjects
Medicine (miscellaneous), 610 Medicine & health, barriers to genetic care, cascade genetic screening, HBOC, healthcare system, relatives
Abstract

Cascade genetic testing of relatives from families with pathogenic variants associated with hereditary breast and ovarian cancer (HBOC) or Lynch syndrome (LS) has important implications for cancer prevention. We compared the characteristics of relatives from HBOC or LS families who did not have genetic testing (GT (−) group) with those who had genetic testing (GT (+) group), regardless of the outcome. Self-administered surveys collected cross-sectional data between September 2017 and December 2021 from relatives participating in the CASCADE cohort. We used multivariable logistic regression with LASSO variable selection. Among n = 115 relatives who completed the baseline survey, 38% (n = 44) were in the GT (−) group. Being male (OR: 2.79, 95% CI: 1.10–7.10) and without a previous cancer diagnosis (OR: 4.47, 95% CI: 1.03–19.42) increased the odds of being untested by almost three times. Individuals from families with fewer tested relatives had 29% higher odds of being untested (OR: 0.71, 95% CI: 0.55–0.92). Reasons for forgoing cascade testing were: lack of provider recommendation, lack of time and interest in testing, being afraid of discrimination, and high out-of-pocket costs. Multilevel interventions designed to increase awareness about clinical implications of HBOC and LS in males, referrals from non-specialists, and support for testing multiple family members could improve the uptake of cascade testing.

Published
2022

4. Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database (Genetics in Medicine, (2020), 22, 1, (15-25), 10.1038/s41436-019-0596-9)

Author

Dominguez-Valentin M., Sampson J. R., Seppala T. T., ten Broeke S. W., Plazzer J. -P., Nakken S., Engel C., Aretz S., Jenkins M. A., Sunde L., Bernstein I., Capella G., Balaguer F., Thomas H., Evans D. G., Burn J., Greenblatt M., Hovig E., de Vos tot Nederveen Cappel W. H., Sijmons R. H., Bertario L., Tibiletti M. G., Cavestro G. M., Lindblom A., Della Valle A., Lopez-Kostner F., Gluck N., Katz L. H., Heinimann K., Vaccaro C. A., Buttner R., Gorgens H., Holinski-Feder E., Morak M., Holzapfel S., Huneburg R., Knebel Doeberitz M., Loeffler M., Rahner N., Schackert H. K., Steinke-Lange V., Schmiegel W., Vangala D., Pylvanainen K., Renkonen-Sinisalo L., Hopper J. L., Win A. K., Haile R. W., Lindor N. M., Gallinger S., Le Marchand L., Newcomb P. A., Figueiredo J. C., Thibodeau S. N., Wadt K., Therkildsen C., Okkels H., Ketabi Z., Moreira L., Sanchez A., Serra-Burriel M., Pineda M., Navarro M., Blanco I., Green K., Lalloo F., Crosbie E. J., Hill J., Denton O. G., Frayling I. M., Rodland E. A., Vasen H., Mints M., Neffa F., Esperon P., Alvarez K., Kariv R., Rosner G., Pinero T. A., Gonzalez M. L., Kalfayan P., Tjandra D., Winship I. M., Macrae F., Moslein G., Mecklin J. -P., Nielsen M., Moller P., Dominguez-Valentin, M., Sampson, J. R., Seppala, T. T., ten Broeke, S. W., Plazzer, J. -P., Nakken, S., Engel, C., Aretz, S., Jenkins, M. A., Sunde, L., Bernstein, I., Capella, G., Balaguer, F., Thomas, H., Evans, D. G., Burn, J., Greenblatt, M., Hovig, E., de Vos tot Nederveen Cappel, W. H., Sijmons, R. H., Bertario, L., Tibiletti, M. G., Cavestro, G. M., Lindblom, A., Della Valle, A., Lopez-Kostner, F., Gluck, N., Katz, L. H., Heinimann, K., Vaccaro, C. A., Buttner, R., Gorgens, H., Holinski-Feder, E., Morak, M., Holzapfel, S., Huneburg, R., Knebel Doeberitz, M., Loeffler, M., Rahner, N., Schackert, H. K., Steinke-Lange, V., Schmiegel, W., Vangala, D., Pylvanainen, K., Renkonen-Sinisalo, L., Hopper, J. L., Win, A. K., Haile, R. W., Lindor, N. M., Gallinger, S., Le Marchand, L., Newcomb, P. A., Figueiredo, J. C., Thibodeau, S. N., Wadt, K., Therkildsen, C., Okkels, H., Ketabi, Z., Moreira, L., Sanchez, A., Serra-Burriel, M., Pineda, M., Navarro, M., Blanco, I., Green, K., Lalloo, F., Crosbie, E. J., Hill, J., Denton, O. G., Frayling, I. M., Rodland, E. A., Vasen, H., Mints, M., Neffa, F., Esperon, P., Alvarez, K., Kariv, R., Rosner, G., Pinero, T. A., Gonzalez, M. L., Kalfayan, P., Tjandra, D., Winship, I. M., Macrae, F., Moslein, G., Mecklin, J. -P., Nielsen, M., and Moller, P.

Abstract

The original version of this Article did not contain details of Dutch Cancer Society (DCS) funding (grant number UL 2017-8223) in the Acknowledgements section. This has now been corrected in both the PDF and HTML versions of the Article.

Published
2020

6. Recommendations to improve identification of hereditary and familial colorectal cancer in Europe

Author

Vasen, H. F. A., Möslein, G., Alonso, A., Aretz, S., Bernstein, I., Bertario, L., Blanco, I., Bulow, S., Burn, J., Capella, G., Colas, C., Engel, C., Frayling, I., Rahner, N., Hes, F. J., Hodgson, S., Mecklin, J.-P., Møller, P., Myrhøj, T., Nagengast, F. M., Parc, Y., Ponz de Leon, M., Renkonen-Sinisalo, L., Sampson, J. R., Stormorken, A., Tejpar, S., Thomas, H. J. W., Wijnen, J., Lubinski, J., Järvinen, H., Claes, E., Heinimann, K., Karagiannis, J. A., Lindblom, A., Dove-Edwin, I., and Müller, H.

Published
2010
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7. Analysis in the Prospective Lynch Syndrome Database identifies sarcoma as part of the Lynch syndrome tumor spectrum

Author

Dominguez-Valentin M., Sampson J. R., Moller P., Seppala T. T., Plazzer J. -P., Nakken S., Engel C., Aretz S., Jenkins M. A., Sunde L., Bernstein I., Capella G., Balaguer F., Thomas H., Evans D. G., Burn J., Greenblatt M., Hovig E., Nielsen M., de Vos tot Nederveen Cappel W. H., Sijmons R. H., Bertario L., Tibiletti M. G., Cavestro G. M., Lindblom A., Valle A. D., Lopez-Kostner F., Gluck N., Katz L. H., Heinimann K., Vaccaro C. A., Buttner R., Gorgens H., Holinski-Feder E., Morak M., Holzapfel S., Huneburg R., von Knebel Doeberitz M., Loeffler M., Rahner N., Weitz J., Steinke-Lange V., ten Broeke S. W., Schmiegel W., Vangala D., Pylvanainen K., Renkonen-Sinisalo L., Hopper J. L., Win A. K., Haile R. W., Lindor N. M., Gallinger S., Le Marchand L., Newcomb P. A., Figueiredo J. C., Thibodeau S. N., Jensen L. H., Madsen M. B., Kroldrup L., Nilbert M., Moreira L., Sanchez A., Serra-Burriel M., Pineda M., Navarro M., Vidal J. B., Blanco I., Green K., Lalloo F., Crosbie E. J., Hill J., Denton O. G., Rodland E. A., Vasen H., Mints M., Neffa F., Esperon P., Alvarez K., Kariv R., Rosner G., Pinero T. A., Gonzalez M. L., Kalfayan P., Tjandra D., Winship I. M., Macrae F., Moslein G., Mecklin J. -P., Dominguez-Valentin, M., Sampson, J. R., Moller, P., Seppala, T. T., Plazzer, J. -P., Nakken, S., Engel, C., Aretz, S., Jenkins, M. A., Sunde, L., Bernstein, I., Capella, G., Balaguer, F., Thomas, H., Evans, D. G., Burn, J., Greenblatt, M., Hovig, E., Nielsen, M., de Vos tot Nederveen Cappel, W. H., Sijmons, R. H., Bertario, L., Tibiletti, M. G., Cavestro, G. M., Lindblom, A., Valle, A. D., Lopez-Kostner, F., Gluck, N., Katz, L. H., Heinimann, K., Vaccaro, C. A., Buttner, R., Gorgens, H., Holinski-Feder, E., Morak, M., Holzapfel, S., Huneburg, R., von Knebel Doeberitz, M., Loeffler, M., Rahner, N., Weitz, J., Steinke-Lange, V., ten Broeke, S. W., Schmiegel, W., Vangala, D., Pylvanainen, K., Renkonen-Sinisalo, L., Hopper, J. L., Win, A. K., Haile, R. W., Lindor, N. M., Gallinger, S., Le Marchand, L., Newcomb, P. A., Figueiredo, J. C., Thibodeau, S. N., Jensen, L. H., Madsen, M. B., Kroldrup, L., Nilbert, M., Moreira, L., Sanchez, A., Serra-Burriel, M., Pineda, M., Navarro, M., Vidal, J. B., Blanco, I., Green, K., Lalloo, F., Crosbie, E. J., Hill, J., Denton, O. G., Rodland, E. A., Vasen, H., Mints, M., Neffa, F., Esperon, P., Alvarez, K., Kariv, R., Rosner, G., Pinero, T. A., Gonzalez, M. L., Kalfayan, P., Tjandra, D., Winship, I. M., Macrae, F., Moslein, G., and Mecklin, J. -P.

Subjects
Male, Adult, Oncology, Cancer Research, 2019-20 coronavirus outbreak, medicine.medical_specialty, sarcoma, Databases, Factual, Coronavirus disease 2019 (COVID-19), Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Sarcoma/diagnosis, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Humans, Medicine, Aged, business.industry, Sarcoma, Syndrome, Middle Aged, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, Lynch syndrome, MSH2, 030220 oncology & carcinogenesis, Colorectal Neoplasms, Hereditary Nonpolyposis/diagnosis, Female, 030211 gastroenterology & hepatology, business
Published
2020

9. Disease severity and genetic pathways in attenuated familial adenomatous polyposis vary greatly but depend on the site of the germline mutation

Author

Sieber, O.M., Segditsas, S., Knudsen, A.L., Zhang, J., Luz, J., Rowan, A.J., Spain, S.L., Thirlwell, C., Howarth, K.M., Jaeger, E.E.M., Robinson, J., Volikos, E., Silver, A., Kelly, G., Aretz, S., Frayling, I., Hutter, P., Dunlop, M., Guenther, T., Neale, K., Phillips, R., Heinimann, K., and Tomlinson, I.P.M.

Subjects
Colorectal cancer -- Genetic aspects, Colorectal cancer -- Development and progression, Gene mutations -- Analysis, Polyposis, Familial -- Research, Polyposis, Familial -- Genetic aspects, Polyposis, Familial -- Development and progression, Health
Published
2006

10. An ancestral Ashkenazi haplotype at the HMPS/CRAC1 locus on 15q13-q14 is associated with hereditary mixed polyposis syndrome

Author

Jaeger, E.E.M., Woodford-Richens, K.L., Lockett, M., Rowan, A.J. Sawyer, E.J., Heinimann, K., Rozen, P., Murday, V.A., Whitelaw, S.C., Ginsberg, A., Atkin, W.S., Lynch, H.T., Southey, M.C., Debinski, H., Eng, C., Bodmer, W.F., Talbot, I.C., Hodgson, S.V., Thomas, H.J.W., and Tomlinson, I.P.M.

Subjects
Polyposis, Familial -- Risk factors, Polyposis, Familial -- Genetic aspects, Genetic disorders -- Research, Ashkenazim -- Genetic aspects, Haplotypes -- Research, Chromosome mapping -- Research, Biological sciences
Published
2003

14. LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients

Author

Oliveira, J, Santos, R, Soares-Silva, I, Jorge, P, Vieira, E, Oliveira, M E, Moreira, A, Coelho, T, Ferreira, J C, Fonseca, M J, Barbosa, C, Prats, J, Aríztegui, M L, Martins, M L, Moreno, T, Heinimann, K, Barbot, C, Pascual-Pascual, S I, Cabral, A, Fineza, I, Santos, M, and Bronze-da-Rocha, E

Published
2008

18. The evolutionary landscape of colorectal tumorigenesis

Author

Cross, W., Kovac, M., Mustonen, V., Temko, D., Davis, H., Baker, A.-M., Biswas, S., Arnold, R., Chegwidden, L., Gatenbee, C., Anderson, A.R., Koelzer, V.H., Martinez, P., Jiang, X., Domingo, E., Woodcock, D.J., Feng, Y., Kovacova, M., Maughan, T., Adams, R., Bach, S., Beggs, A., Brown, L., Buffa, F., Cazier, J.-B., Blake, A., Wu, C.-H., Chatzpili, E., Richman, S., Dunne, P., Harkin, P., Higgins, G., Hill, J., Holmes, C., Horgan, D., Kaplan, R., Kennedy, R., Lawler, M., Leedham, S., McDermott, U., McKenna, G., Middleton, G., Morton, D., Murray, G., Quirke, P., Salto-Tellez, M., Samuel, L., Schuh, A., Sebag-Montefiore, D., Seymour, M., Sharma, R., Sullivan, R., Tomlinson, I., West, N., Wilson, R., Jansen, M., Rodriguez-Justo, M., Ashraf, S., Guy, R., Cunningham, C., East, J.E., Wedge, D.C., Wang, L.M., Palles, C., Heinimann, K., Sottoriva, A., Graham, T.A., and Tomlinson, I.P.M.

Subjects
0301 basic medicine, Adenoma, Fitness landscape, Carcinogenesis, Evolutionary landscape, Biology, medicine.disease_cause, Models, Biological, Article, Evolution, Molecular, 03 medical and health sciences, medicine, Humans, Stabilizing selection, Ecology, Evolution, Behavior and Systematics, Exome sequencing, Ecology, Manchester Cancer Research Centre, Genetic heterogeneity, ResearchInstitutes_Networks_Beacons/mcrc, Carcinoma, Cancer, medicine.disease, 030104 developmental biology, Evolutionary biology, Mutation, Colorectal Neoplasms
Abstract

The evolutionary events that cause colorectal adenomas (benign) to progress to carcinomas (malignant) remain largely undetermined. Using multi-region genome/exome sequencing of 24 benign and malignant colorectal tumours, we probe the evolutionary fitness landscape occupied by these neoplasms. Unlike carcinomas, advanced adenomas frequently harbour sub-clonal driver mutations, which are considered to be functionally important in the carcinogenic process, that have not swept to fixation, and have relatively high genetic heterogeneity. Carcinomas are distinguished from adenomas by widespread aneusomies that are usually clonal and often accrue in a “punctuated” fashion. We conclude that adenomas evolve across an undulating fitness landscape, whereas carcinomas occupy a sharper fitness peak, probably owing to stabilising selection.

Published
2018

21. Attenuated familial adenomatous polyposis: results from an international collaborative study

Author

Knudsen, AL, Bülow, S, Tomlinson, I, Möslein, G, Heinimann, K, and Christensen, IJ

Abstract

AIM: The study aimed to describe genetical and clinical features of attenuated familial adenomatous polyposis (AFAP) and to propose clinical criteria and guidelines for treatment and surveillance. METHOD: A questionnaire study was carried out of polyposis registries with data on patients with presumed AFAP, defined as having ≤ 100 colorectal adenomas at age ≥ 25. RESULTS: One hundred and ninety-six patients were included. The median number of adenomas was 25 (0-100) with a uniform distribution of colorectal adenomas and carcinomas (CRC). Age at CRC diagnosis was delayed by 15 years compared with classic FAP. Eighty-two patients had a colectomy and an ileorectal anastomosis and 5/82 (6%) had a secondary proctectomy. The location of the mutation in the APC gene was known in 69/171 (40%) tested patients. Only 15/29 (52%) of mutations in APC were found in parts of the gene usually associated with AFAP (the 5' end, exon 9 and 3' end). CONCLUSIONS: A subset of FAP patients with a milder phenotype does exist and treatment and surveillance had to be modified accordingly. The mutation detection rate is lower than in classic FAP and mutations in AFAP patients are located throughout the APC gene. We propose the following clinical diagnostic criteria for AFAP: a dominant mode of inheritance of colorectal adenomatosis and

Published
2016

22. Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion

Author

Denora, Ps, Schlesinger, D, Casali, Carlo, Kok, F, Tessa, A, Boukhris, A, Azzedine, H, Dotti, Mt, Bruno, C, Truchetto, J, Biancheri, R, Fedirko, E, DI ROCCO, M, Bueno, C, Malandrini, A, Battini, R, Sickl, E, DE LEVA MF, BOESPFLUG TANGUY, O, Silvestri, G, Simonati, A, Said, E, Ferbert, A, Criscuolo, C, Heinimann, K, Modoni, A, Weber, P, Palmeri, S, Plasilova, M, Pauri, Flavia, Cassandrini, D, Battisti, C, Pini, A, Tosetti, M, Hauser, E, Masciullo, M, DI FABIO, R, Piccolo, F, Denis, E, Cioni, G, Massa, R, Della, Giustina, E, Calabrese, O, Melone, Ma, DE MICHELE, G, Federico, A, Bertini, E, Durr, A, Brockmann, K, VAN DER KNAAP MS, Zatz, M, Filla, A, Brice, A, Stevanin, G, Santorelli, Fm, Denora, P., Schlesinger, D., Casali, C., Kok, F., Tessa, A., Boukhris, A., Azzedine, H., Dotti, M., Bruno, C., Trucchetto, J., Biancheri, R., Fedirko, E., DI ROCCO, M., Bueno, C., Malandrini, A., Battini, R., Sickl, E., DE LEVA, F., BOESPFLUG TANGUY, O., Silvestri, G., Simonati, A., Said, E., Ferbert, A., Criscuolo, C., Heinimann, K., Modoni, A., Weber, P., Palmeri, S., Plasilova, M., Pauri, F., Cassandrini, D., Battisti, C., Pini, A., Tosetti, M., Hauser, E., Masciullo, M., DI FABIO, R., Piccolo, F., Denis, E., Cioni, G., Massa, R., DELLA GIUSTINA, E., Calabrese, O., Melone, Mariarosa Anna Beatrice, DE MICHELE, G., Federico, A., Bertini, E., Durr, A., Brockmann, K., VAN DER KNAPP, M., Zatz, M., Filla, A., Brice, A., Stevanin, G., Santorelli, F., Pediatric surgery, NCA - Childhood White Matter Diseases, Denora, P, Schlesinger, D, Casali, C, Kok, F, Tessa, A, Boukhris, A, Azzedine, H, Dotti, Mt, Bruno, C, Truchetto, J, Biancheri, R, Fedirko, E, Di Rocco, M, Bueno, C, Malandrini, A, Battini, R, Sickl, E, de Leva, Mf, Boespflug Tanguy, O, Silvestri, G, Simonati, A, Said, E, Ferbert, A, Criscuolo, C, Heinimann, K, Modoni, A, Weber, P, Palmeri, S, Plasilova, M, Pauri, F, Cassandrini, D, Battisti, C, Pini, A, Tosetti, M, Hauser, E, Masciullo, M, Fabio, Rd, Piccolo, F, Denis, E, Cioni, G, Massa, R, Giustina, Ed, Calabrese, O, Melone, Ma, DE MICHELE, Giuseppe, Federico, A, Bertini, E, Durr, A, Brockmann, K, van der Knaap, M, Zatz, M, Filla, Alessandro, Brice, A, Stevanin, G, Santorelli, F. M., Di Fabio, R, Della Giustina, E, and Other departments

Subjects
Male, ARHSP, DNA Mutational Analysis, medicine.disease_cause, Mutation screening, SPG11, TCC, 0302 clinical medicine, Gene Frequency, Genotype, Gene duplication, Missense mutation, Genetics (clinical), Genetics, 0303 health sciences, Mutation, education.field_of_study, medicine.diagnostic_test, mutation screening, Middle Aged, Pedigree, 3. Good health, Morocco, Female, Settore MED/26 - Neurologia, Brazil, Adult, Adolescent, ARHSP, TCC, SPG11, mutation screening, Population, Genes, Recessive, Biology, Young Adult, 03 medical and health sciences, medicine, Humans, Genetic Testing, education, Allele frequency, 030304 developmental biology, Genetic testing, Family Health, Base Sequence, Portugal, Spastic Paraplegia, Hereditary, MUTAÇÃO GENÉTICA, Haplotype, Proteins, Haplotypes, Algeria, Agenesis of Corpus Callosum, Gene Deletion, 030217 neurology & neurosurgery
Abstract

Autosomal recessive spastic paraplegia with thinning of corpus callosum (ARHSP-TCC) is a complex form of HSP initially described in Japan but subsequently reported to have a worldwide distribution with a particular high frequency in multiple families from the Mediterranean basin. We recently showed that ARHSP-TCC is commonly associated with mutations in SPG11/KIAA1840 on chromosome 15q. We have now screened a collection of new patients mainly originating from Italy and Brazil, in order to further ascertain the spectrum of mutations in SPG11, enlarge the ethnic origin of SPG11 patients, determine the relative frequency at the level of single Countries (i.e., Italy), and establish whether there is one or more common mutation. In 25 index cases we identified 32 mutations; 22 are novel, including 9 nonsense, 3 small deletions, 4 insertions, 1 in/del, 1 small duplication, 1 missense, 2 splice-site, and for the first time a large genomic rearrangement. This brings the total number of SPG11 mutated patients in the SPATAX collection to 111 cases in 44 families and in 17 isolated cases, from 16 Countries, all assessed using homogeneous clinical criteria. While expanding the spectrum of mutations in SPG11, this larger series also corroborated the notion that even within apparently homogeneous population a molecular diagnosis cannot be achieved without full gene sequencing.

Published
2009

24. Recurrent chromosomal gains and heterogeneous driver mutations characterise papillary renal cancer evolution

Author

Kovac, M, Navas, C, Horswell, S, Salm, M, Bardella, C, Rowan, A, Stares, M, Castro-Giner, F, Fisher, R, De Bruin, EC, Kovacova, M, Gorman, M, Makino, S, Williams, J, Jaeger, E, Jones, A, Howarth, K, Larkin, J, Pickering, L, Gore, M, Nicol, DL, Hazell, S, Stamp, G, O'Brien, T, Challacombe, B, Matthews, N, Phillimore, B, Begum, S, Rabinowitz, A, Varela, I, Chandra, A, Horsfield, C, Polson, A, Tran, M, Bhatt, R, Terracciano, L, Eppenberger-Castori, S, Protheroe, A, Maher, E, El Bahrawy, M, Fleming, S, Ratcliffe, P, Heinimann, K, Swanton, C, and Tomlinson, I

Subjects
Adult, Male, DNA Copy Number Variations, TUMOR TYPES, Loss of Heterozygosity, Polymorphism, Single Nucleotide, Chromosomes, Article, ACTIVATION, MD Multidisciplinary, Humans, COMPARATIVE GENOMIC HYBRIDIZATION, Exome, Carcinoma, Renal Cell, Phylogeny, Aged, Aged, 80 and over, Science & Technology, ORIGIN, Antibodies, Monoclonal, Chromosome Mapping, Exons, Histone-Lysine N-Methyltransferase, Sequence Analysis, DNA, CELL CARCINOMA, Middle Aged, GENE, Kidney Neoplasms, Multidisciplinary Sciences, Gene Expression Regulation, Neoplastic, COPY NUMBER, Mutation, Science & Technology - Other Topics, CLEAR-CELL, INACTIVATION, Female, MET PROTOONCOGENE
Abstract

Papillary renal cell carcinoma (pRCC) is an important subtype of kidney cancer with a problematic pathological classification and highly variable clinical behaviour. Here we sequence the genomes or exomes of 31 pRCCs, and in four tumours, multi-region sequencing is undertaken. We identify BAP1, SETD2, ARID2 and Nrf2 pathway genes (KEAP1, NHE2L2 and CUL3) as probable drivers, together with at least eight other possible drivers. However, only ~10% of tumours harbour detectable pathogenic changes in any one driver gene, and where present, the mutations are often predicted to be present within cancer sub-clones. We specifically detect parallel evolution of multiple SETD2 mutations within different sub-regions of the same tumour. By contrast, large copy number gains of chromosomes 7, 12, 16 and 17 are usually early, monoclonal changes in pRCC evolution. The predominance of large copy number variants as the major drivers for pRCC highlights an unusual mode of tumorigenesis that may challenge precision medicine approaches., Papillary renal cell carcinoma (pRCC) is a subtype of kidney cancer characterized by highly variable clinical behaviour. Here the authors sequence either the genomes or exomes of 31 pRCCs and identify several genes in sub-clones and large copy number variants in major clones that may be important drivers of pRCC.

Published
2014

29. Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts

Author

Vasen, H.F.A., Blanco, I., Aktan-Collan, K., Gopie, J.P., Alonso, A., Aretz, S., Bernstein, I., Bertario, L., Burn, J., Capella, G., Colas, C., Engel, C., Frayling, I.M., Genuardi, M., Heinimann, K., Hes, F.J., Hodgson, S.V., Karagiannis, J.A., Lalloo, F., Lindblom, A., Mecklin, J.P., Moller, P., Myrhoj, T., Nagengast, F.M., Parc, Y., Leon, M.P. de, Renkonen-Sinisalo, L., Sampson, J.R., Stormorken, A., Sijmons, R.H., Tejpar, S., Thomas, H.J.W., Rahner, N., Wijnen, J.T., Jarvinen, H.J., Moslein, G., Mallorca Grp, Clinical sciences, and Medical Genetics

Subjects
Male, Settore MED/03 - GENETICA MEDICA, 0302 clinical medicine, Public health surveillance, QUALITY-OF-LIFE, Risk Factors, Neoplasms, Medicine, Public Health Surveillance, Lynch syndrome (HNPCC, Gastroenterology, NONPOLYPOSIS COLORECTAL-CANCER, MSH2 MUTATION CARRIERS, Cost-effectiveness analysis, Colonoscopy, Middle Aged, Lynch syndrome, 3. Good health, 030220 oncology & carcinogenesis, 030211 gastroenterology & hepatology, Female, Systematic search, Adult, medicine.medical_specialty, MEDLINE, BLADDER-CANCER, COST-EFFECTIVENESS ANALYSIS, guidelines, HNPCC, RC0254, 03 medical and health sciences, Young Adult, Quality of life (healthcare), Translational research [ONCOL 3], Humans, PROPHYLACTIC SALPINGO-OOPHORECTOMY, Aged, Gynecology, business.industry, Endometrial cancer, DRAKE HEALTH REGISTRY, Colonoscopy/standards, ENDOMETRIAL CANCER, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, BODY-MASS INDEX, MSH6, Family medicine, MISMATCH-REPAIR GENES, Colorectal Neoplasms, Hereditary Nonpolyposis/complications, business, Neoplasms/diagnosis
Abstract

Lynch syndrome (LS) is characterised by the\ud development of colorectal cancer, endometrial cancer\ud and various other cancers, and is caused by a mutation\ud in one of the mismatch repair genes: MLH1, MSH2,\ud MSH6 or PMS2. In 2007, a group of European experts\ud (the Mallorca group) published guidelines for the clinical\ud management of LS. Since then substantial new\ud information has become available necessitating an\ud update of the guidelines. In 2011 and 2012 workshops\ud were organised in Palma de Mallorca. A total of 35\ud specialists from 13 countries participated in the\ud meetings. The first step was to formulate important\ud clinical questions. Then a systematic literature search\ud was performed using the Pubmed database and manual\ud searches of relevant articles. During the workshops the\ud outcome of the literature search was discussed in detail.\ud The guidelines described in this paper may be helpful for\ud the appropriate management of families with LS.\ud Prospective controlled studies should be undertaken to\ud improve further the care of these families.

Published
2013

35. Exome sequencing identifies mutations inKIF14as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype

Author

Filges, I., primary, Nosova, E., additional, Bruder, E., additional, Tercanli, S., additional, Townsend, K., additional, Gibson, W.T., additional, Röthlisberger, B., additional, Heinimann, K., additional, Hall, J.G., additional, Gregory-Evans, C.Y., additional, Wasserman, W.W., additional, Miny, P., additional, and Friedman, J.M., additional

Published
2013
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38. Mismatch repair deficiency: a temozolomide resistance factor in medulloblastoma cell lines that is uncommon in primary medulloblastoma tumours

Author

von Bueren, A O, primary, Bacolod, M D, additional, Hagel, C, additional, Heinimann, K, additional, Fedier, A, additional, Kordes, U, additional, Pietsch, T, additional, Koster, J, additional, Grotzer, M A, additional, Friedman, H S, additional, Marra, G, additional, Kool, M, additional, and Rutkowski, S, additional

Published
2012
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44. Prognostic and predictive value of TOPK stratified by KRAS and BRAF gene alterations in sporadic, hereditary and metastatic colorectal cancer patients

Author

Zlobec, I, primary, Molinari, F, additional, Kovac, M, additional, Bihl, M P, additional, Altermatt, H J, additional, Diebold, J, additional, Frick, H, additional, Germer, M, additional, Horcic, M, additional, Montani, M, additional, Singer, G, additional, Yurtsever, H, additional, Zettl, A, additional, Terracciano, L, additional, Mazzucchelli, L, additional, Saletti, P, additional, Frattini, M, additional, Heinimann, K, additional, and Lugli, A, additional

Published
2009
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45. Recommendations to improve identification of hereditary and familial colorectal cancer in Europe

Author

Vasen, H. F. A., primary, Möslein, G., additional, Alonso, A., additional, Aretz, S., additional, Bernstein, I., additional, Bertario, L., additional, Blanco, I., additional, Bulow, S., additional, Burn, J., additional, Capella, G., additional, Colas, C., additional, Engel, C., additional, Frayling, I., additional, Rahner, N., additional, Hes, F. J., additional, Hodgson, S., additional, Mecklin, J.-P., additional, Møller, P., additional, Myrhøj, T., additional, Nagengast, F. M., additional, Parc, Y., additional, Ponz de Leon, M., additional, Renkonen-Sinisalo, L., additional, Sampson, J. R., additional, Stormorken, A., additional, Tejpar, S., additional, Thomas, H. J. W., additional, Wijnen, J., additional, Lubinski, J., additional, Järvinen, H., additional, Claes, E., additional, Heinimann, K., additional, Karagiannis, J. A., additional, Lindblom, A., additional, Dove-Edwin, I., additional, and Müller, H., additional

Published
2009
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