When cancer is a rare disease
DOI:
https://doi.org/10.3989/arbor.2018.789n3006Keywords:
Familial cancer, hereditary cancer, cancer susceptibility syndromes, massive exome sequencing, genetic counselingAbstract
When a person inherits a mutation in a cancer susceptibility gene it means that he/she will have a high probability of developing cancer at an early age of onset and will live with several first and second degree familial members in the same situation. There are more than 200 clinical entities with cancer susceptibility and all of them have a familial and personal impact. Although their frequency is low, corresponding to around 5% of cancers, they have a high impact on the population. The identification of people at risk and their clinical follow up are important to provide adequate genetic counseling and help to reduce costs by focusing the different surveillance measures only on people with the highest probability of developing cancer. Determining the genes responsible and conducting a genetic study in families at risk constitute critical steps in this process. New technologies of massive sequencing have facilitated the search for genes associated with familial cancer. We expect to soon have a wide spectrum of the genetic bases of these syndromes and to be able to apply these results to clinical practice.
Downloads
References
Alimonti, A., Carracedo, A., Clohessy, J. G. Trotman, L. C., Nardella, C., Egia, A. […] y Richardson, A. L. (2010). Subtle variations in Pten dose determine cancer susceptibility. Nature Genetics, 42 (5), pp. 454-458. https://doi.org/10.1038/ng.556 PMid:20400965 PMCid:PMC3118559
American Cancer Society (2018). Cancer Facts & Figures 2018. Atlanta, Ga: American Cancer Society.
Ballew, B. J., Yeager, M., Jacobs, K., Giri, N., Boland, J., Burdett, L. [...] y Savage, S. A. (2013). Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in dyskeratosis congenita. Human Genetics, 132 (4), pp. 473-480. https://doi.org/10.1007/s00439-013-1265-8 PMid:23329068 PMCid:PMC3600110
Bennett, K. L., Campbell, R., Ganapathi, S., Zhou, M., Rini, B., Ganapathi, R. […] y Eng, C. (2011). Germline and somatic DNA methylation and epigenetic regulation of KILLIN in renal cell carcinoma. Genes, Chromosomes and Cancer, 50 (8), pp. 654-661. https://doi.org/10.1002/gcc.20887 PMid:21584899 PMCid:PMC3110575
Bennett, R. L., Steinhaus, K. A., Uhrich, S. B., O'Sullivan, C. K., Resta, R. G., Lochner-Doyle, D. [...] y Hamanishi, J. (1995). Recommendations for standardized human pedigree nomenclature. The American Journal of Human Genetics, 56, pp. 745-752. PMid:7887430 PMCid:PMC1801187
Blaydon, D. C., Etheridge, S. L., Risk, J. M., Hennies, H. C., Gay, L. J., Carroll, R. […] y Bishop, D. T. (2012). RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome. The American Journal of Human Genetics, 90 (2), pp. 340-346. https://doi.org/10.1016/j.ajhg.2011.12.008 PMid:22265016 PMCid:PMC3276661
Bogliolo, M., Schuster, B., Stoepker, C., Derkunt, B., Su, Y., Raams, A. […] y Casado, J. A. (2013). Mutations in ERCC4, Encoding the DNA-Repair Endonuclease XPF, Cause Fanconi Anemia. The American Journal of Human Genetics, 92 (5), pp. 800-806. https://doi.org/10.1016/j.ajhg.2013.04.002 PMid:23623386 PMCid:PMC3644630
Bonneau, D. y Longy, M. (2000). Mutations of the human PTEN gene. Human Mutation, 16 (2), pp. 109- 122. https://doi.org/10.1002/1098-1004(200008)16:2<109::AID-HUMU3>3.0.CO;2-0
Bubien, V., Bonnet, F., Brouste, V., Hoppe, S., Barouk-Simonet, E., David, A. [...] y Caux, F. (2013), High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. Journal of Medical Genetics, 50, pp. 255-263. https://doi.org/10.1136/jmedgenet-2012-101339 PMid:23335809
Cho, Y. J. y Liang, P. (2008). KILLIN is a p53- regulated nuclear inhibitor of DNA synthesis. Proceedings of the National Academy of Sciences, 105 (14), pp. 5396-5401. https://doi.org/10.1073/pnas.0705410105 PMid:18385383 PMCid:PMC2291080
Comino-Méndez, I, Gracia-Aznárez, F. J., Schiavi, F., Landa, I., Leandro-García, L. J., Letón, R. [...] y Cascón, A. (2011). Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma. Nature Genetics, 43 (7), pp. 663-667. https://doi.org/10.1038/ng.861 PMid:21685915
Daniels, M. S., Rich, T., Weissman, S. y Pilarsky, R. (2012). Lifetime cancer risks of PTEN mutation carriers. Clinical Cancer Research, 18, p. 4213. https://doi.org/10.1158/1078-0432.CCR-12-0577 PMid:22723373
Delnatte, C., Sanlaville, D., Mougenot, J. F., Vermeexch, J. R., Houdayer, C., Blois, M. C. de […] y Stoppa-Lyonnet, D. (2006). Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes. The American Journal of Human Genetics, 78 (6), pp. 1066-1074. https://doi.org/10.1086/504301 PMid:16685657 PMCid:PMC1474102
Dienstmann, R., Rodon, J., Serra, V. y Tabernero, J. (2014). Picking the point of inhibition: a comparative review of PI3K/AKT/mTOR pathway inhibitors. Molecular Cancer Therapeutics, 13 (5), pp. 1021-1031. https://doi.org/10.1158/1535-7163.MCT-13-0639 PMid:24748656
Eng, C. (2001). PTEN Hamartoma Tumor Syndrome (PHTS). GeneReviews at GeneTests: Medical Genetics Information Resource. [En línea]. Disponible en https://www.ncbi.nlm.nih.gov/books/ NBK1488/
Eng, C. (2000). Will the real Cowden syndrome please stand up: revised diagnostic criteria. Journal of Medical Genetics, 37 (11), pp. 828-830. https://doi.org/10.1136/jmg.37.11.828 PMCid:PMC1734465
Eng, C. (2003). PTEN: One gene, many syndromes. Human Mutation, 22 (3), pp. 183-198. https://doi.org/10.1002/humu.10257 PMid:12938083
Faller, H., Schuler, M., Richard, M., Heckl, U., Weis, J. y Küffner, R. (2013). Effects of psycho-oncologic interventions on emotional distress and quality of life in adult patients with cancer: systematic review and meta-analysis. Journal of Clinical Oncology, 31 (6), pp. 782-793. https://doi.org/10.1200/JCO.2011.40.8922 PMid:23319686
Filippini, S. E. y Vega, A. (2013). Breast cancer genes: beyond BRCA1 and BRCA2. Frontiers in Bioscience, 18, pp. 1358- 1372. https://doi.org/10.2741/4185
Frank, S. A. (2004). Genetic predisposition to cancer - insights from population genetics. Nature Reviews Genetics, 5 (10), pp. 764-772. https://doi.org/10.1038/nrg1450 PMid:15510167
Ghoussaini, M., Pharoah, P. D. y Easton, D. F. (2013). Inherited genetic susceptibility to breast cancer: the beginning of the end or the end of the beginning? The American Journal of Pathology, 183 (4), pp. 1038-1051. https://doi.org/10.1016/j.ajpath.2013.07.003 PMid:23973388
Gorlin, R. J., Cohen Jr., M. M., Condon, L. M. y Burke, B. A. (1992). Bannayan- Riley-Ruvalcaba syndrome. American Journal of Medical Genetics, 44 (3), pp. 307-314. https://doi.org/10.1002/ajmg.1320440309 PMid:1336932
Gracia-Aznarez, F. J., Fernández, V., Pita, G., Peterlongo, P., Domínguez, O., Hoya, M. de la [...] y Benítez, J. (2013). Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles. PLoS One, 8 (2), e55681. https://doi.org/10.1371/journal.pone.0055681 PMid:23409019 PMCid:PMC3568132
Hilbers, F. S., Meijers, C. M., Laros, J. F., Galen, M. van, Hoogerbrugge, N., Vase, H. F. A. [...] Devilee, P. (2013). Exome sequencing of germline DNA from non- BRCA1/2 familial breast cancer cases selected on the basis of aCGH tumor profiling. PLoS One, 8 (1), e55734. https://doi.org/10.1371/journal.pone.0055734 PMid:23383274 PMCid:PMC3561352
Hollander, M. C., Blumenthal, G. M. y Dennis, P. A. (2011). PTEN loss in the continuum of common cancers, rare syndromes and mouse models. Nature Reviews Cancer, 11 (4), pp. 289-301. https://doi.org/10.1038/nrc3037 PMid:21430697
Komiya, T., Blumenthal, G. M., Ballas, M. S., Dechowdhury, R., Manu, M., Fioravanti, S. [...] y Hewitt, S. M. (2013). A pilot study of sirolimus (S) in subjects with Cowden syndrome (CS) with germ-line mutations in PTEN. Journal of Clinical Oncology, 31 (15_suppl), p. 2532.
Lee, J. O., Yang, H., Georgescu, M. M. Cristofano, A., Maehama, T., Shi, Y. [...] y Pavletich, N. P. (1999). Crystal structure of the PTEN tumor suppressor: implications for its phosphoinositide phosphatase activity and membrane association. Cell, 99 (3), pp. 323-334. https://doi.org/10.1016/S0092-8674(00)81663-3
Liaw, D., Marsh, D. J., Li, J., Dahia, P. L., Wang, S. I., Zheng, Z. [...] y Parsons, R. (1997). Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nature Genetics, 16 (1), pp. 64-67. https://doi.org/10.1038/ng0597-64 PMid:9140396
Lindor, N. M., Greene, M. H. y Mayo Familial Cancer Program (1998). The concise handbook of family cancer syndromes. Journal of the National Cancer Institute, 90 (14), pp. 1039-1071. https://doi.org/10.1093/jnci/90.14.1039
Lloyd, K. M. y Dennis, M. (1963). Cowden´s disease: a possible new symptom complex with multiple system involvement. Annals of Internal Medicine, 58 (1), pp. 136-142. https://doi.org/10.7326/0003-4819-58-1-136
Lu, Y., Ek, W. E., Whiteman, D., Vaughan, T. L., Spurdle, A. B., Easton, D. F. [...] y Macgregor, S. (2014). Most common 'sporadic' cancers have a significant germline genetic component. Human Molecular Genetics, 23 (22), pp. 6112- 6118. https://doi.org/10.1093/hmg/ddu312 PMid:24943595 PMCid:PMC4271103
Maehama, T. y Dixon, J. E. (1998). The tumor suppressor PTEN/NMAC1, dephosphorylates the lipid second messenger, phosphatidylinositol 3,4,5-triphosphate. Journal of Biological Chemistry, 273 (22), pp. 13375-13378. https://doi.org/10.1074/jbc.273.22.13375
Marsh, D. J. y Zori, R. T. (2002). Genetic insights into familial cancers-update and recent discoveries. Cancer Letters, 181 (2), pp. 125-164. https://doi.org/10.1016/S0304-3835(02)00023-X
McKusick, V. A. (1998). Mendelian Inheritance in Man: a catalog of human genes and genetic disorders. Johns Hopkins University.
Meindl, A., Hellebrand, H., Wiek, C., Erven, V., Wappenschmidt, B., Niederacher, D. [...] y Hanenberg, H. (2010). Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. Nature Genetics, 42 (5), pp. 410-414. https://doi.org/10.1038/ng.569 PMid:20400964
Milne, R. L. y Benítez, J. (2008). Current strategies in the search for low penetrance genes in cancer. Histology and Histopathology, 23 (4), pp. 507-514. PMid:18228208
Nagy, R., Sweet, K. y Eng, C. (2004). Highly penetrant hereditary cancer syndromes. Oncogene, 23 (38), pp. 6445-6470. https://doi.org/10.1038/sj.onc.1207714 PMid:15322516
Nelen, M. R., Padberg, G. W., Peeters, E. A. J., Lin, A. Y., Helm, B. van den, Frants, R. R. [...] y Eng, C. (1996). Localization of the gene for Cowden disease to chromosome 10q22-23. Nature Genetics, 13 (1), pp. 114- 116. https://doi.org/10.1038/ng0596-114 PMid:8673088
Ni, Y. y Eng, C. (2012). Vitamin E protects against lipid peroxidation and rescues tumorigenic phenotypes in cowden/cowden-like patient-derived lymphoblast cells with germline SDHx variants. Clinical Cancer Research, 18, pp. 4954-4961. https://doi.org/10.1158/1078-0432.CCR-12-1055 PMid:22829200 PMCid:PMC3445717
Nieuwenhuis, M. H., Kets, C. M., Murphy- Ryan, M., Yntema, H. G., Evans, D. G., Colas, C. [...] y Vasen, H. F. A. (2013). Cancer risk and genotype-phenotype correlations in PTEN hamartoma tumor syndrome. Familial Cancer, 13 (1), pp. 57-63. https://doi.org/10.1007/s10689-013-9674-3 PMid:23934601
Offit K. (1998). Clinical Cancer Genetics. Risk Counseling & Management. New York: Wiley.
Orloff, M. S., He, X., Peterson, C., Chen, F., Chen, J. L., Mester, J. L., y Eng, C. (2013). Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes. The American Journal of Human Genetics, 92 (1), pp. 76-80. https://doi.org/10.1016/j.ajhg.2012.10.021 PMid:23246288 PMCid:PMC3542473
Osorio, A., Endt, D., Fernández, F., Eirich, K., Hoya, M. de la, Schmutzler, R. [...] y Benítez, J. (2012). Predominance of pathogenic missense variants in the RAD51C gene occurring in breast and ovarian cancer families. Human Molecular Genetics, 21 (13), pp. 2889-2898. https://doi.org/10.1093/hmg/dds115 PMid:22451500
Pascarenco, O. D., Boeriu, A., Mocan, S., Pascarenco, G., Drasoveanu, S., Galeanu, M. y Dobru, D. (2014). Barrett's esophagus and intestinal metaplasia of gastric cardia: prevalence, clinical, endoscopic and histological features. Journal of Gastrointestinal and Liver Diseases, 23 (1), pp. 19-25. PMid:24689092
Pilarski, R., Burt, R., Kohlman, W., Pho, L., Shannon, K. M. y Swisher, E. (2013). Cowden Syndrome and the PTEN Hamartoma Tumor Syndrome: Systematic review and revised diagnostic criteria. Journal of the National Cancer Institute, 105 (21), pp. 1607-1616. https://doi.org/10.1093/jnci/djt277 PMid:24136893
Rivera, B., Perea, J., Sánchez, E., Villapun, M., Sánchez-Tomé, E., Mercadillo [...] y Urioste, M. (2014). A novel AXIN2 germline variant associated with attenuated FAP without signs of oligondontia or ectodermal dysplasia. European Journal of Human Genetics, 22 (3), pp. 423-426. https://doi.org/10.1038/ejhg.2013.146 PMid:23838596 PMCid:PMC3925274
Roberts, N. J., Jiao, Y., Yu, J., Kopolovich, L., Petersen, G. M., Bondy, M. L. [...] y Klein, A. P. (2012). ATM mutations in patients with hereditary pancreatic cancer. Cancer Discovery, 2, pp. 41-46. https://doi.org/10.1158/2159-8290.CD-11-0194 PMid:22585167 PMCid:PMC3676748
Robles-Espinoza, C. D., Harland, M., Ramsay, A. J., Aoude, L. G., Quesada, V., Ding, Z. […] y Adams, D. J. (2014). POT1 loss-of-function variants predispose to familial melanoma. Nature Genetics, 46 (5), pp. 478-481. https://doi.org/10.1038/ng.2947 PMid:24686849 PMCid:PMC4266105
Rosa-Rosa, J. M., Gracia-Aznárez, F. J., Hodges, E., Pita, G., Rooks, M., Xuan, Z. [...] y Benítez, J. (2010). Deep sequencing of target linkage assay-identified regions in familial breast cancer: methods, analysis pipeline and troubleshooting. PLoS One, 5 (4), e9976. https://doi.org/10.1371/journal.pone.0009976 PMid:20368986 PMCid:PMC2848842
Salem, O. S. y Steck, W. D. (1983). Cowden´s disease (multiple hamartoma and neoplasia syndrome): A case report and review of the English literature. Journal of the American Academy of Dermatology, 8 (5), pp. 686-696. https://doi.org/10.1016/S0190-9622(83)70081-2
Schneider, K. (2002). Counselling About Cancer. Strategies for Genetic Counselling (2.ª ed). New York: Wiley.
Shi, J., Yang, X. R., Ballew, B., Rotunno, M., Calista, D., Fargnoli, M. C. [...] y Landi, M. T (2014). Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma. Nature Genetics, 46 (5), pp. 482-486. https://doi.org/10.1038/ng.2941 PMid:24686846 PMCid:PMC4056593
Snape, K., Ruark, E., Tarpey, P., Renwick, A., Turnbull, C., Seal, S. […] y Rahman, N. (2012). Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancer. Breast Cancer Research Treatement, 134 (1), pp. 429-433. https://doi.org/10.1007/s10549-012-2057-x PMid:22527104 PMCid:PMC3781770
Sociedad Espa-ola de Oncología Médica (SEOM). Las cifras del cáncer en Espa-a 2018. [En línea]. Disponible en https:// www.seom.org/seomcms/images/stories/recursos/Las_Cifras_del_cancer_ en_Espana2018.pdf
Southey, M. C., Park, D. J., Nguyen-Dumont, T., Campbell, I., Thompson, E., Trainer, A. H. […] y Goldgar, D. E. (2013). COMPLEXO: identifying the missing heritability of breast cancer via next generation collaboration. Breast Cancer Ressearch, 15 (3), 402. https://doi.org/10.1186/bcr3434 PMid:23809231 PMCid:PMC3706918
Tan, M. H., Mester, J. L., Ngeow, J., Ribicki, L. A., Orloff, M. S. y Eng, C. (2012). Lifetime cancer risks in individuals with germline PTEN mutations. Clinical Cancer Research, 18 (2), pp. 400-407. https://doi.org/10.1158/1078-0432.CCR-11-2283 PMid:22252256 PMCid:PMC3261579
Tan, M. H., Mester, J., Peterson, C., Yang, Y., Chen, J. L., Rybicki, L. A [...] y Eng, C. (2011). A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands. The American Journal of Human Genetics, 88 (1), pp. 42-56. https://doi.org/10.1016/j.ajhg.2010.11.013 PMid:21194675 PMCid:PMC3014373
Thompson, E. R., Doyle, M. A., Ryland, G. L., Rowley, S. M., Choong, D. Y., Tothill, R. W. [...] y Campbell, I. G. (2012). Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles. PLoS Genetics, 8 (9), e1002894. https://doi.org/10.1371/journal.pgen.1002894 PMCid:PMC3459953
Tucker, T., Marra, M. y Friedman, J. M. (2009). Massively parallel sequencing: the next big thing in genetic medicine. The American Journal of Human Genetics, 85 (2), pp. 142-154. https://doi.org/10.1016/j.ajhg.2009.06.022 PMCid:PMC2725244
Urioste Azcorra, M. (2011). Detección e identificación de síndromes de susceptibilidad al cáncer. En Bandrés Moya, F. (ed.) y Urioste Azcorra, M. (coord.) Planteamientos básicos del cáncer hereditario: principales síndromes. Madrid: Fundación Tejerina, pp. 27-46.
Valle, L., Perea, J., Carbonell, P., Fernández, V., Dotor, A. M., Benítez, J. y Urioste, M. (2007). Clinicopathologic and pedigree differences in Amsterdam I-positive hereditary nonpolyposis colorrectal cancer families according to tumor microsatellite instability status. Journal of Clinical Oncology, 25 (7), pp. 781-786. https://doi.org/10.1200/JCO.2006.06.9781
Vogelstein, B. y Kinzler, K. W. (2002). The Genetic Basis of Human Cancer (2.ª ed.). New York: McGraw-Hill.
Zhang, S. y Yu, D. (2010). PI (3) king apart PTEN´s role in cancer. Clinical Cancer Research, 16, pp. 4325-4330. https://doi.org/10.1158/1078-0432.CCR-09-2990
Zhuang, Z., Yang, C., Lorenzo, F., Merino, M., Fojo, T., Kebebew, E. […] y Pacak, K. (2012). Somatic HIF2A gain-of-function mutations in paraganglioma with polycythemia. The New England Journal of Medicine, 367 (10), pp. 922-930 https://doi.org/10.1056/NEJMoa1205119
Published
How to Cite
Issue
Section
License
Copyright (c) 2018 Consejo Superior de Investigaciones Científicas (CSIC)
This work is licensed under a Creative Commons Attribution 4.0 International License.
© CSIC. Manuscripts published in both the printed and online versions of this Journal are the property of Consejo Superior de Investigaciones Científicas, and quoting this source is a requirement for any partial or full reproduction.All contents of this electronic edition, except where otherwise noted, are distributed under a “Creative Commons Attribution 4.0 International” (CC BY 4.0) License. You may read here the basic information and the legal text of the license. The indication of the CC BY 4.0 License must be expressly stated in this way when necessary.
Self-archiving in repositories, personal webpages or similar, of any version other than the published by the Editor, is not allowed.
