Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma
Open accessAbstract
Although CDKN2A is the most frequent high-risk melanoma susceptibility gene, the underlying genetic factors for most melanoma-prone families remain unknown. Using whole-exome sequencing, we identified a rare variant that arose as a founder mutation in the telomere shelterin gene POT1 (chromosome 7, g.124493086C>T; p.Ser270Asn) in five unrelated melanoma-prone families from Romagna, Italy. Carriers of this variant had increased telomere lengths and numbers of fragile telomeres, suggesting that this variant perturbs telomere maintenance. Two additional rare POT1 variants were identified in all cases sequenced in two separate Italian families, one variant per family, yielding a frequency for POT1 variants comparable to that for CDKN2A mutations in this population. These variants were not found in public databases or in 2,038 genotyped Italian controls. We also identified two rare recurrent POT1 variants in US and French familial melanoma cases. Our findings suggest that POT1 is a major susceptibility gene for familial melanoma in several populations.
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Carriers of POT1 mutations have longer telomeres, likely because POT1-mediated inhibition of telomerase is lost.
“Carriers of these mutations have longer telomeres, presumably owing to the loss of POT1-mediated inhibition of telomerase (BOX 1).”
From Telomeres in cancer: tumour suppression and genome instability (2017) · cites this paper as [63]
Melanoma-predisposing POT1 mutations reduce POT1 binding to single-stranded telomeric DNA.
“As a consequence, the ability of POT1 to bind to single-stranded telomeric DNA is diminished.”
From Telomeres in cancer: tumour suppression and genome instability (2017) · cites this paper as [63]
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Cites
PLINK: a tool set for whole-genome association and population-based linkage analyses.
Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M. A. R., Bender, D., Maller, J., Sklar, P., de Bakker, P. I. W., Daly, M. J., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/519795 · Cited by 34,089 · see citing works
A framework for variation discovery and genotyping using next-generation DNA sequencing data
DePristo, M. A., Banks, E., Poplin, R. E., Garimella, K. V., Maguire, J., Hartl, C., Philippakis, A., del Angel, G., Rivas, M. A., Hanna, M., et al. (2011) · Nature Genetics · doi:10.1038/ng.806 · Cited by 11,216 · see citing works
Jalview Version 2—a multiple sequence alignment editor and analysis workbench
Waterhouse, A. M., Procter, J. B., Martin, D. M. A., Clamp, M. E., & Barton, G. J. (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp033 · Cited by 10,011 · see citing works
T-Coffee: A novel method for fast and accurate multiple sequence alignment.
Notredame, C., Higgins, D., & Heringa, J. (2000) · Journal of Molecular Biology · doi:10.1006/jmbi.2000.4042 · Cited by 7,321 · see citing works
COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer
Forbes, S. A., Bindal, N., Bamford, S., Cole, C., Kok, C. Y., Beare, D., Jia, M., Shepherd, R., Leung, K., Menzies, A., et al. (2011) · Nucleic Acids Research · doi:10.1093/nar/gkq929 · Cited by 2,278 · see citing works
How Shelterin Protects Mammalian Telomeres
Palm, W., & de Lange, T. (2008) · Annual Review of Genetics · doi:10.1146/annurev.genet.41.110306.130350 · Cited by 1,802 · see citing works
<i>TERT</i> Promoter Mutations in Familial and Sporadic Melanoma
Horn, S., Figl, A., Rachakonda, P. S., Fischer, C., Sucker, A., Gast, A., Kadel, S., Moll, I., Nagore, E., Hemminki, K., et al. (2013) · Science · doi:10.1126/science.1230062 · Cited by 1,799 · see citing works
Self-citationBrowning, B. L., & Browning, S. R. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.01.005 · Cited by 1,640 · see citing works
DNA Damage Foci at Dysfunctional Telomeres
Takai, H., Smogorzewska, A., & de Lange, T. (2003) · Current Biology · doi:10.1016/s0960-9822(03)00542-6 · Cited by 1,409 · see citing works
Germline p16 mutations in familial melanoma
Hussussian, C. J., Struewing, J. P., Goldstein, A. M., Higgins, P., Ally, D. S., Sheahan, M. D., Clark, W. H., Tucker, M. A., & Dracopoli, N. C. (1994) · Nature Genetics · doi:10.1038/ng0994-15 · Cited by 1,252 · see citing works
Self-citationMammalian Telomeres Resemble Fragile Sites and Require TRF1 for Efficient Replication
Sfeir, A., Kosiyatrakul, S. T., Hockemeyer, D., MacRae, S. L., Karlseder, J., Schildkraut, C. L., & de Lange, T. (2009) · Cell · doi:10.1016/j.cell.2009.06.021 · Cited by 990 · see citing works
Chambers Scott, A. (2007) · Hyomen Kagaku · Cited by 941 · see citing works
Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma
Zuo, L., Weger, J., Yang, Q., Goldstein, A. M., Tucker, M. A., Walker, G. J., Hayward, N., & Dracopoli, N. C. (1996) · Nature Genetics · doi:10.1038/ng0196-97 · Cited by 818 · see citing works
Self-citationGermline mutations in BAP1 predispose to melanocytic tumors
Wiesner, T., Obenauf, A. C., Murali, R., Fried, I., Griewank, K., Ulz, P., Windpassinger, C., Wackernagel, W., Loy, S., Wolf, I. H., et al. (2011) · Nature Genetics · doi:10.1038/ng.910 · Cited by 726 · see citing works
The POT1-TPP1 telomere complex is a telomerase processivity factor.
Wang, F., Podell, E. R., Zaug, A. J., Yang, Y., Baciu, P., Cech, T. R., & Lei, M. (2007) · Nature · doi:10.1038/nature05454 · Cited by 704 · see citing works
POT1 as a terminal transducer of TRF1 telomere length control
Loayza, D., & de Lange, T. (2003) · Nature · doi:10.1038/nature01688 · Cited by 696 · see citing works
Copy number variation detection and genotyping from exome sequence dataPreprint
Krumm, N., Sudmant, P. H., Ko, A., O’Roak, B. J., Malig, M., Coe, B. P., NHLBI Exome Sequencing Project, Quinlan, A. R., Nickerson, D. A., & Eichler, E. E. (2012) · Genome Research · doi:10.1101/gr.138115.112 · Cited by 639 · see citing works
Assignment of a Locus for Familial Melanoma, MLM, to Chromosome 9p13-p22
Cannon‐Albright, L., Goldgar, D. E., Meyer, L. J., Lewis, C. M., Anderson, D. E., Fountain, J. W., Hegi, M. E., Wiseman, R. W., Petty, E. M., Bale, A. E., et al. (1992) · Science · doi:10.1126/science.1439824 · Cited by 524 · see citing works
Lei, M., Podell, E., & Cech, T. (2004) · Nature Structural &Molecular Biology · doi:10.1038/nsmb867 · Cited by 503 · see citing works
Telomeres in the mouse have large inter-chromosomal variations in the number of T 2 AG 3 repeats
Zijlmans, J. M. J. M., Martens, U. M., Poon, S. S. S., Raap, A. K., Tanke, H. J., Ward, R. K., & Lansdorp, P. M. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.14.7423 · Cited by 501 · see citing works
Landi, M. T., Chatterjee, N., Yu, K. F., Goldin, L. R., Goldstein, A. M., Rotunno, M., Mirabello, L. J., Jacobs, K. B., Wheeler, W., Yeager, M., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.05.003 · Cited by 496 · see citing works
Self-citationLandi, M. T., Chatterjee, N., Yu, K. F., Goldin, L. R., Goldstein, A. M., Rotunno, M., Mirabello, L. J., Jacobs, K. B., Wheeler, W., Yeager, M., et al. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.09.012 · Cited by 495 · see citing works
Self-citationTPP1 is a homologue of ciliate TEBP-β and interacts with POT1 to recruit telomerase
Xin, H., Liu, D., Wan, M., Safari, A., Kim, H., Sun, W., O’Connor, M. S., & Songyang, Z. (2007) · Nature · doi:10.1038/nature05469 · Cited by 486 · see citing works
Detection of sharing by descent, long-range phasing and haplotype imputation
Kong, A., Masson, G., Frigge, M. L., Gylfason, A., Zusmanovich, P., Thorleifsson, G., Olason, P. I., Ingason, A., Steinberg, S., Rafnar, T., et al. (2008) · Nature Genetics · doi:10.1038/ng.216 · Cited by 447 · cited 1× · see citing works
“For subjects with no parent genotyped, we followed the concept of “surrogate parent” 42 to identify subjects who shared a long stretch of identity by descent (IBD) and resolved the phase for the stretch.”
POT1 loss-of-function variants predispose to familial melanoma
Robles-Espinoza, C. D., Harland, M., Ramsay, A. J., Aoude, L. G., Quesada, V., Ding, Z., Pooley, K. A., Pritchard, A. L., Tiffen, J. C., Petljak, M., et al. (2014) · Nature Genetics · doi:10.1038/ng.2947 · Cited by 391 · see citing works
Martínez, P., Thanasoula, M., Muñoz, P., Liao, C., Tejera, Á. M., McNees, C. J., Flores, J. M., Fernández-Capetillo, Ó., Tarsounas, M., & Blasco, M. A. (2009) · Genes & Development · doi:10.1101/gad.543509 · Cited by 367 · see citing works
Homozygotes for CDKN2 (p16) germline mutation in Dutch familial melanoma kindreds
Gruis, N. A., van der Velden, P. A., Sandkuijl, L. A., Prins, D. E. M., Weaver-Feldhaus, J., Kamb, A., Bergman, W., & Frants, R. R. (1995) · Nature Genetics · doi:10.1038/ng0795-351 · Cited by 309 · see citing works
POT1 mutations cause telomere dysfunction in chronic lymphocytic leukemia
Ramsay, A. J., Quesada, V., Foronda, M., Conde, L., Martínez‐Trillos, A., Villamor, N., Rodrı́guez, D., Kwarciak, A., Garabaya, C., Gallardo, M., et al. (2013) · Nature Genetics · doi:10.1038/ng.2584 · Cited by 276 · see citing works
The telomerase reverse transcriptase is limiting and necessary for telomerase function in vivo
Liu, Y., Snow, B. E., Hande, M. P., Yeung, D., Erdmann, N. J., Wakeham, A., Itie, A., Siderovski, D. P., Lansdorp, P. M., Robinson, M. O., et al. (2000) · Current Biology · doi:10.1016/s0960-9822(00)00805-8 · Cited by 244 · see citing works
Self-citationGermline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita
Ballew, B. J., Yeager, M., Jacobs, K. B., Giri, N., Boland, J. F., Burdett, L. A., Alter, B. P., & Savage, S. A. (2013) · Human Genetics · doi:10.1007/s00439-013-1265-8 · Cited by 235 · see citing works
Self-citationDNA self-recognition in the structure of Pot1 bound to telomeric single-stranded DNA
Lei, M., Podell, E. R., Baumann, P., & Cech, T. R. (2003) · Nature · doi:10.1038/nature02092 · Cited by 195 · see citing works
DNA G-quartets in a 1.86 Å resolution structure of an Oxytricha nova telomeric protein-DNA complex
Horvath, M. P., & Schultz, S. C. (2001) · Journal of Molecular Biology · doi:10.1006/jmbi.2001.4766 · Cited by 169 · see citing works
BRCA2 acts as a RAD51 loader to facilitate telomere replication and capping
Badie, S., Escandell, J. M., Bouwman, P., Carlos, A. R., Thanasoula, M., Gallardo, M. M., Suram, A., Jaco, I., Benitez, J. J., Herbig, U., et al. (2010) · Nature Structural & Molecular Biology · doi:10.1038/nsmb.1943 · Cited by 164 · see citing works
Gu, P., Min, J., Wang, Y., Huang, C., Peng, T., Chai, W., & Chang, S. S. (2012) · The EMBO Journal · doi:10.1038/emboj.2012.96 · Cited by 162 · see citing works
Self-citationGenetic Epidemiology of Cutaneous Melanoma
Goldstein, A. M., & Tucker, M. A. (2001) · Archives of Dermatology · doi:10.1001/archderm.137.11.1493 · Cited by 150 · see citing works
Self-citationPuntervoll, H. E., Yang, X. R., Høberg‐Vetti, H., Bachmann, I. M., Avril, M.-F., Benfodda, M., Catricalà, C., Dalle, S., Duval‐Modeste, A. B., Ghiorzo, P., et al. (2013) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2012-101455 · Cited by 145 · see citing works
Self-citationA natural history of melanomas and dysplastic nevi
Tucker, M. A., Fraser, M. C., Goldstein, A. M., Struewing, J. P., King, M. A., Crawford, J. T., Chiazze, E. A., Zametkin, D. P., Fontaine, L. S., & Clark, W. H. (2002) · Cancer · doi:10.1002/cncr.10605 · Cited by 144 · see citing works
Self-citationLandi, M. T., Consonni, D., Rotunno, M., Bergen, A. W., Goldstein, A. M., Lubin, J. H., Goldin, L. R., Alavanja, M. C. R., Morgan, G. D., Subar, A. F., et al. (2008) · BMC Public Health · doi:10.1186/1471-2458-8-203 · Cited by 130 · see citing works
Self-citationFamilial melanoma, pancreatic cancer and germline CDKN2A mutations
Goldstein, A. M. (2004) · Human Mutation · doi:10.1002/humu.9247 · Cited by 130 · see citing works
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Génin, E., Pelet, A., Begeot, F., Lyonnet, S., & Abel, L. (2004) · Journal of Medical Genetics · doi:10.1136/jmg.2003.017962 · Cited by 125 · see citing works
Chaudru, V., Chompret, A., Paillerets, B. B., Spatz, A., Avril, M.-F., & Démenais, F. (2004) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/djh136 · Cited by 103 · see citing works
Self-citationStrand-specific fluorescence in situ hybridization: the CO-FISH family
Bailey, S. M., Goodwin, E. H., & Cornforth, M. N. (2004) · Cytogenetic and Genome Research · doi:10.1159/000079565 · Cited by 100 · see citing works
Human Telomeres Maintain Their Overhang Length at Senescence
Chai, W., Shay, J. W., & Wright, W. E. (2005) · Molecular and Cellular Biology · doi:10.1128/mcb.25.6.2158-2168.2005 · Cited by 72 · see citing works
Self-citationVallabhaneni, H., O’Callaghan, N. J., Sidorova, J. M., & Liu, Y. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003639 · Cited by 60 · see citing works
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Eliason, M. J., Larson, A. A., Florell, S. R., Zone, J. J., Cannon‐Albright, L., Samlowski, W. E., & Leachman, S. A. (2006) · Journal of Investigative Dermatology · doi:10.1038/sj.jid.5700094 · Cited by 60 · see citing works
Wang, Y., Erdmann, N., Giannone, R. J., Wu, J., Gomez, M., & Liu, Y. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0504635102 · Cited by 45 · see citing works
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Landi, M. T., Goldstein, A. M., Tsang, S., Munroe, D. J., Modi, W., Ter‐Minassian, M., Steighner, R., Dean, M. C., Metheny, N., Staats, B. J., et al. (2004) · Journal of Medical Genetics · doi:10.1136/jmg.2003.016907 · Cited by 43 · see citing works
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Theobald, D. L., & Schultz, S. C. (2003) · The EMBO Journal · doi:10.1093/emboj/cdg415 · Cited by 41 · see citing works
Classen, S., Ruggles, J. A., & Schultz, S. C. (2001) · Journal of Molecular Biology · doi:10.1006/jmbi.2000.5191 · Cited by 41 · see citing works
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Kendellen, M. F., Barrientos, K. S., & Counter, C. M. (2009) · Molecular and Cellular Biology · doi:10.1128/mcb.00286-09 · Cited by 33 · see citing works
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Self-citationLong Telomeres Bypass the Requirement for Telomere Maintenance in Human Tumorigenesis
Taboski, M. A. S., Sealey, D., Dorrens, J., Tayade, C., Betts, D. H., & Harrington, L. A. (2012) · Cell Reports · doi:10.1016/j.celrep.2011.12.004 · Cited by 24 · see citing works
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Bodelón, C., Pfeiffer, R. M., Bollati, V., Debbache, J., Calista, D., Ghiorzo, P., Fargnoli, M. C., Bianchi‐Scarrà, G., Peris, K., Hoxha, M., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0052466 · Cited by 21 · see citing works
Self-citationAnalysis of Telomere Length and Telomerase Activity
Hathcock, K. S., Hodes, R. J., & Weng, N. (2004) · Current Protocols in Immunology · doi:10.1002/0471142735.im1030s62 · Cited by 20 · see citing works
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- Authors
- NCI DCEG Cancer Sequencing Working Group, Shi, J., Laboratory, N. D. C. G. R., French Familial Melanoma Study Group, Yang, X. R., Ballew, B., Rotunno, M., Calista, D., Fargnoli, M. C., Ghiorzo, P., Bressac-de Paillerets, B., Nagore, E., Avril, M. F., Caporaso, N. E., McMaster, M. L., Cullen, M., Wang, Z., Zhang, X., Bruno, W., Pastorino, L., Queirolo, P., Banuls-Roca, J., Garcia-Casado, Z., Vaysse, A., Mohamdi, H., Riazalhosseini, Y., Foglio, M., Jouenne, F., Hua, X., Hyland, P. L., Yin, J., Vallabhaneni, H., Chai, W., Minghetti, P., Pellegrini, C., Ravichandran, S., Eggermont, A., Lathrop, M., Peris, K., Scarra, G. B., Landi, G., Savage, S. A., Sampson, J. N., He, J., Yeager, M., Goldin, L. R., Demenais, F., Chanock, S. J., Tucker, M. A., Goldstein, A. M., Liu, Y., & Landi, M. T.
- Affiliations
- National Institutes of Health (US)
- Ospedale “M. Bufalini” di Cesena (IT)
- University of L'Aquila (IT)
- Fundación Instituto Valenciano de Oncología (ES)
- Ospedale Policlinico San Martino (IT)
- Hospital General Universitario de Alicante Doctor Balmis (ES)
- Inserm (FR)
- Institut Gustave Roussy (FR)
- Washington State University Spokane (US)
- Frederick National Laboratory for Cancer Research (US)
- Université Paris-Sud (FR)
- Fondation Jean Dausset-CEPH (FR)
- Corresponding author
- Landi, Maria Teresa
- ORCID
- Shi, Jianxin
- Ballew, Bari
- Rotunno, Melissa
- Fargnoli, Maria Concetta
- Ghiorzo, Paola
- Nagore, Eduardo
- Avril, Marie Francoise
- McMaster, Mary L
- Wang, Zhaoming
- Zhang, Xijun
- Bruno, William
- Pastorino, Lorenza
- Queirolo, Paola
- Vaysse, Amaury
- Mohamdi, Hamida
- Riazalhosseini, Yasser
- Jouenne, Fanélie
- Hua, Xing
- Hyland, Paula L
- Yin, Jinhu
- Vallabhaneni, Haritha
- Chai, Weihang
- Minghetti, Paola
- Pellegrini, Cristina
- Ravichandran, Sarangan
- Eggermont, Alexander
- Lathrop, Mark
- Peris, Ketty
- Savage, Sharon A
- Sampson, Joshua N
- He, Ji
- Yeager, Meredith
- Goldin, Lynn R
- Demenais, Florence
- Chanock, Stephen J
- Tucker, Margaret A
- Goldstein, Alisa M
- Liu, Yie
- Landi, Maria Teresa
- Venue
- Nature Genetics
- Published
- 2014-03-30
- Volume
- 46
- Issue
- 5
- Pages
- 482-486
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC4056593
- OpenAlex
- W2051870471
- Cited by
- 331
- References
- 55
- Citations by year
- 2026: 17 · 2025: 12 · 2024: 23 · 2023: 25 · 2022: 24 · 2021: 26 · 2020: 41 · 2019: 21 · 2018: 30 · 2017: 26 · 2016: 38 · 2015: 38 · 2014: 10
- FWCI
- 18.04
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- CINECA IRIS Institutial Research Information System (University of Genoa) (submittedVersion)
- Archivio Istituzionale della Ricerca - Università degli Studi dell Aquila (submittedVersion)
- Funders
- National Institutes of Health (HHSN261200800001C)
- National Cancer Institute (HHSN261200800001E), Z01CP004410)
- Topics
- Health Sciences › Medicine › Oncology › Cutaneous Melanoma Detection and Management
- Health Sciences › Medicine › Physiology › Telomeres, Telomerase, and Senescence
- Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
- Keywords
- POT1, melanoma susceptibility, founder mutation, rare missense variants, telomere length, telomere fragility, telomere maintenance, CDKN2A, genetic susceptibility
- MeSH terms
- Shelterin Complex, Cutaneous Malignant Melanoma, Melanoma, Cutaneous Malignant, Amino Acid Sequence, Base Sequence, France, Humans, Italy, Melanoma, Models, Molecular, Molecular Sequence Data, Neoplasms, Connective Tissue, Pedigree, Skin Neoplasms, United States, Sequence Alignment, In Situ Hybridization, Fluorescence, Sequence Analysis, DNA, Computational Biology, Genetic Predisposition to Disease, Mutation, Missense, Telomere-Binding Proteins, Exome, Telomere Homeostasis
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