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42 results on '"Alhopuro, Pia"'

1. Comparison of the ABC and ACMG systems for variant classification

Author

Houge, Gunnar, Bratland, Eirik, Aukrust, Ingvild, Tveten, Kristian, Žukauskaitė, Gabrielė, Sansovic, Ivona, Brea-Fernández, Alejandro J., Mayer, Karin, Paakkola, Teija, McKenna, Caoimhe, Wright, William, Markovic, Milica Keckarevic, Lildballe, Dorte L., Konecny, Michal, Smol, Thomas, Alhopuro, Pia, Gouttenoire, Estelle Arnaud, Obeid, Katharina, Todorova, Albena, Jankovic, Milena, Lubieniecka, Joanna M., Stojiljkovic, Maja, Buisine, Marie-Pierre, Haukanes, Bjørn Ivar, Lorans, Marie, Roomere, Hanno, Petit, François M., Haanpää, Maria K., Beneteau, Claire, Pérez, Belén, Plaseska-Karanfilska, Dijana, Rath, Matthias, Fuhrmann, Nico, Ferreira, Bibiana I., Stephanou, Coralea, Sjursen, Wenche, Maver, Aleš, Rouzier, Cécile, Chirita-Emandi, Adela, Gonçalves, João, Kuek, Wei Cheng David, Broly, Martin, Haer-Wigman, Lonneke, Thong, Meow-Keong, Tae, Sok-Kun, Hyblova, Michaela, den Dunnen, Johan T., and Laner, Andreas

Published
2024
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2. Correction to: Assessment of gene–disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA

Author

Revencu, Nicole, Eijkelenboom, Astrid, Bracquemart, Claire, Alhopuro, Pia, Armstrong, Judith, Baselga, Eulalia, Cesario, Claudia, Dentici, Maria Lisa, Eyries, Melanie, Frisk, Sofia, Karstensen, Helena Gásdal, Gene‑Olaciregui, Nagore, Kivirikko, Sirpa, Lavarino, Cinzia, Mero, Inger‑Lise, Michiels, Rodolphe, Pisaneschi, Elisa, Schönewolf‑Greulich, Bitten, Wieland, Ilse, Zenker, Martin, and Vikkula, Miikka

Published
2024
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3. Assessment of gene–disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA

Author

Revencu, Nicole, Eijkelenboom, Astrid, Bracquemart, Claire, Alhopuro, Pia, Armstrong, Judith, Baselga, Eulalia, Cesario, Claudia, Dentici, Maria Lisa, Eyries, Melanie, Frisk, Sofia, Karstensen, Helena Gásdal, Gene-Olaciregui, Nagore, Kivirikko, Sirpa, Lavarino, Cinzia, Mero, Inger-Lise, Michiels, Rodolphe, Pisaneschi, Elisa, Schönewolf-Greulich, Bitten, Wieland, Ilse, Zenker, Martin, and Vikkula, Miikka

Published
2024
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4. Cancer risk and tumour spectrum in 172 patients with a germline SUFU pathogenic variation: a collaborative study of the SIOPE Host Genome Working Group.

Author

Guerrini-Rousseau, Léa, Masliah-Planchon, Julien, Waszak, Sebastian, Alhopuro, Pia, Benusiglio, Patrick, Bourdeaut, Franck, Brecht, Ines, Del Baldo, Giada, Dhanda, Sandeep, Garrè, Maria, Gidding, Corrie, Hirsch, Steffen, Hoarau, Pauline, Jorgensen, Mette, Kratz, Christian, Lafay-Cousin, Lucie, Mastronuzzi, Angela, Pastorino, Lorenza, Pfister, Stefan, Schroeder, Christopher, Smith, Miriam, Vahteristo, Pia, Vibert, Roseline, Vilain, Catheline, Waespe, Nicolas, Winship, Ingrid, Evans, D, and Brugieres, Laurence

Subjects
central nervous system diseases, congenital, hereditary, and neonatal diseases and abnormalities, genetic counseling, genetic predisposition to disease, germ-line mutation
Abstract

BACKGROUND: Little is known about risks associated with germline SUFU pathogenic variants (PVs) known as a cancer predisposition syndrome. METHODS: To study tumour risks, we have analysed data of a large cohort of 45 unpublished patients with a germline SUFU PV completed with 127 previously published patients. To reduce the ascertainment bias due to index patient selection, the risk of tumours was evaluated in relatives with SUFU PV (89 patients) using the Nelson-Aalen estimator. RESULTS: Overall, 117/172 (68%) SUFU PV carriers developed at least one tumour: medulloblastoma (MB) (86 patients), basal cell carcinoma (BCC) (25 patients), meningioma (20 patients) and gonadal tumours (11 patients). Thirty-three of them (28%) had multiple tumours. Median age at diagnosis of MB, gonadal tumour, first BCC and first meningioma were 1.5, 14, 40 and 44 years, respectively. Follow-up data were available for 160 patients (137 remained alive and 23 died). The cumulative incidence of tumours in relatives was 14.4% (95% CI 6.8 to 21.4), 18.2% (95% CI 9.7 to 25.9) and 44.1% (95% CI 29.7 to 55.5) at the age of 5, 20 and 50 years, respectively. The cumulative risk of an MB, gonadal tumour, BCC and meningioma at age 50 years was: 13.3% (95% CI 6 to 20.1), 4.6% (95% CI 0 to 9.7), 28.5% (95% CI 13.4 to 40.9) and 5.2% (95% CI 0 to 12), respectively. Sixty-four different PVs were reported across the entire SUFU gene and inherited in 73% of cases in which inheritance could be evaluated. CONCLUSION: Germline SUFU PV carriers have a life-long increased risk of tumours with a spectrum dominated by MB before the age of 5, gonadal tumours during adolescence and BCC and meningioma in adulthood, justifying fine-tuned surveillance programmes.

Published
2022

6. Data from Mutations in the Circadian Gene CLOCK in Colorectal Cancer

Author

Alhopuro, Pia, primary, Björklund, Mikael, primary, Sammalkorpi, Heli, primary, Turunen, Mikko, primary, Tuupanen, Sari, primary, Biström, Mia, primary, Niittymäki, Iina, primary, Lehtonen, Heli J., primary, Kivioja, Teemu, primary, Launonen, Virpi, primary, Saharinen, Juha, primary, Nousiainen, Kari, primary, Hautaniemi, Sampsa, primary, Nuorva, Kyösti, primary, Mecklin, Jukka-Pekka, primary, Järvinen, Heikki, primary, Orntoft, Torben, primary, Arango, Diego, primary, Lehtonen, Rainer, primary, Karhu, Auli, primary, Taipale, Jussi, primary, and Aaltonen, Lauri A., primary

Published
2023
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7. Supplementary Data from Mutations in the Circadian Gene CLOCK in Colorectal Cancer

Author

Alhopuro, Pia, primary, Björklund, Mikael, primary, Sammalkorpi, Heli, primary, Turunen, Mikko, primary, Tuupanen, Sari, primary, Biström, Mia, primary, Niittymäki, Iina, primary, Lehtonen, Heli J., primary, Kivioja, Teemu, primary, Launonen, Virpi, primary, Saharinen, Juha, primary, Nousiainen, Kari, primary, Hautaniemi, Sampsa, primary, Nuorva, Kyösti, primary, Mecklin, Jukka-Pekka, primary, Järvinen, Heikki, primary, Orntoft, Torben, primary, Arango, Diego, primary, Lehtonen, Rainer, primary, Karhu, Auli, primary, Taipale, Jussi, primary, and Aaltonen, Lauri A., primary

Published
2023
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10. Brush border Myosin la has tumor suppressor activity in the intestine

Author

Mazzolini, Rocco, Dopeso, Higinio, Mateo-Lozano, Silvia, Chang, Wakam, Rodrigues, Paulo, Bazzocco, Sarah, Alazzouzi, Hafid, Landolfi, Stefania, Hernández-Losa, Javier, Andretta, Elena, Alhopuro, Pia, Espín, Eloy, Armengol, Manel, Tabernero, Josep, Ramón y Cajal, Santiago, Kloor, Matthias, Gebert, Johannes, Mariadason, John M., Schwartz, Simo, Aaltonen, Lauri A., Mooseker, Mark S., and Arango, Diego

Published
2012

11. Unregulated Smooth-Muscle Myosin in Human Intestinal Neoplasia

Author

Alhopuro, Pia, Phichith, Denis, Tuupanen, Sari, Sammalkorpi, Heli, Nybondas, Miranda, Saharinen, Juha, Robinson, James P., Yang, Zhaohui, Chen, Li-Qiong, Orntoft, Torben, Mecklin, Jukka-Pekka, Järvinen, Heikki, Eng, Charis, Moeslein, Gabriela, Shibata, Darryl, Houlston, Richard S., Lucassen, Anneke, Tomlinson, Ian P. M., Launonen, Virpi, Ristimäki, Ari, Arango, Diego, Karhu, Auli, Sweeney, H. Lee, and Aaltonen, Lauri A.

Published
2008
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12. The MDM2 Promoter SNP285C/309G Haplotype Diminishes Sp1 Transcription Factor Binding and Reduces Risk for Breast and Ovarian Cancer in Caucasians

Author

Knappskog, Stian, Bjørnslett, Merete, Myklebust, Line M., Huijts, Petra E.A., Vreeswijk, Maaike P., Edvardsen, Hege, Guo, Yongli, Zhang, Xuemei, Yang, Ming, Ylisaukko-oja, Sanna K., Alhopuro, Pia, Arola, Johanna, Tollenaar, Rob A.E.M., van Asperen, Christi J., Seynaeve, Caroline, Staalesen, Vidar, Chrisanthar, Ranjan, Løkkevik, Erik, Salvesen, Helga B., Evans, D. Gareth, Newman, William G., Lin, Dongxin, Aaltonen, Lauri A., Børresen-Dale, Anne-Lise, Tell, Grethe S., Stoltenberg, Camilla, Romundstad, Pål, Hveem, Kristian, Lillehaug, Johan R., Vatten, Lars, Devilee, Peter, Dørum, Anne, and Lønning, Per E.

Published
2011
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13. Cancer risk and tumour spectrum in 172 patients with a germlineSUFUpathogenic variation: a collaborative study of the SIOPE Host Genome Working Group

Author

Guerrini-Rousseau, Léa, primary, Masliah-Planchon, Julien, additional, Waszak, Sebastian M, additional, Alhopuro, Pia, additional, Benusiglio, Patrick R, additional, Bourdeaut, Franck, additional, Brecht, Ines B, additional, Del Baldo, Giada, additional, Dhanda, Sandeep Kumar, additional, Garrè, Maria Luisa, additional, Gidding, Corrie E M, additional, Hirsch, Steffen, additional, Hoarau, Pauline, additional, Jorgensen, Mette, additional, Kratz, Christian, additional, Lafay-Cousin, Lucie, additional, Mastronuzzi, Angela, additional, Pastorino, Lorenza, additional, Pfister, Stefan M, additional, Schroeder, Christopher, additional, Smith, Miriam Jane, additional, Vahteristo, Pia, additional, Vibert, Roseline, additional, Vilain, Catheline, additional, Waespe, Nicolas, additional, Winship, Ingrid M, additional, Evans, D Gareth, additional, and Brugieres, Laurence, additional

Published
2022
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16. Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis

Author

Sweet, Kevin, Bridgeman, Scott, Heinz, John, Willis, Joseph, Martin, Cossette, Pilarski, Robert, Eng, Charis, Xiao-Ping Zhou, Patocs, Attila, Lehtonen, Rainer, Aaltonen, Lauri A., Gallione, Carol, Khoo, Sok Kean, Prior, Thomas W., Marchuk, Douglas A., Sawada, Takeshi, Alhopuro, Pia, Frebourg, Thierry, and Teh, Bin Tean

Subjects
Peutz-Jeghers syndrome -- Diagnosis, Peutz-Jeghers syndrome -- Comparative analysis, Intestinal polyps -- Diagnosis, Intestinal polyps -- Comparative analysis
Abstract

Patients with unexplained hamartomatous or hyperplastic/mixed polyposis were systematically classified by extensive molecular analysis in the context of central rereview of histopathology results. Systematic molecular classification of 49 patients with unexplained hamartomatous or hyperplastic polyposis uncovered a potential novel susceptibility gene, ENG, for juvenile polyposis.

Published
2005

17. Candidate driver genes in microsatellite-unstable colorectal cancer

Author

Alhopuro, Pia, Sammalkorpi, Heli, Niittymäki, Iina, Biström, Mia, Raitila, Anniina, Saharinen, Juha, Nousiainen, Kari, Lehtonen, Heli J., Heliövaara, Elina, Puhakka, Jani, Tuupanen, Sari, Sousa, Sónia, Seruca, Raquel, Ferreira, Ana M., Hofstra, Robert M. W., Mecklin, Jukka-Pekka, Järvinen, Heikki, Ristimäki, Ari, rntoft, Torben F., Hautaniemi, Sampsa, Arango, Diego, Karhu, Auli, and Aaltonen, Lauri A.

Published
2012
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23. Distinct patterns of KRAS mutations in colorectal carcinomas according to germline mismatch repair defects and hMLH1 methylation status

Author

Oliveira, Carla, Westra, Jantine L., Arango, Diego, Ollikainen, Miina, Domingo, Enric, Ferreira, Ana, Velho, Sérgia, Niessen, Renee, Lagerstedt, Kristina, Alhopuro, Pia, Laiho, Paivi, Veiga, Isabel, Teixeira, Manuel R., Ligtenberg, Marjolijn, Kleibeuker, Jan H., Sijmons, Rolf H., Plukker, John T., Imai, Kohzoh, Lage, Pedro, Hamelin, Richard, Albuquerque, Cristina, Schwartz, Simo, Jr, Lindblom, Annika, Peltomaki, Päivi, Yamamoto, Hiroyuki, Aaltonen, Lauri A., Seruca, Raquel, and Hofstra, Robert M.W.

Published
2004

24. Somatic mutation analysis of MYH11 in breast and prostate cancer

Author

Waltering Kati, Winqvist Robert, Karhu Auli, Alhopuro Pia, Visakorpi Tapio, and Aaltonen Lauri A

Subjects
Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
Abstract

Abstract Background MYH11 (also known as SMMHC) encodes the smooth-muscle myosin heavy chain, which has a key role in smooth muscle contraction. Inversion at the MYH11 locus is one of the most frequent chromosomal aberrations found in acute myeloid leukemia. We have previously shown that MYH11 mutations occur in human colorectal cancer, and may also be associated with Peutz-Jeghers syndrome. The mutations found in human intestinal neoplasia result in unregulated proteins with constitutive motor activity, similar to the mutant myh11 underlying the zebrafish meltdown phenotype characterized by disrupted intestinal architecture. Recently, MYH1 and MYH9 have been identified as candidate breast cancer genes in a systematic analysis of the breast cancer genome. Methods The aim of this study was to investigate the role of somatic MYH11 mutations in two common tumor types; breast and prostate cancers. A total of 155 breast cancer and 71 prostate cancer samples were analyzed for those regions in MYH11 (altogether 8 exons out of 42 coding exons) that harboured mutations in colorectal cancer in our previous study. Results In breast cancer samples only germline alterations were observed. One prostate cancer sample harbored a frameshift mutation c.5798delC, which we have previously shown to result in a protein with unregulated motor activity. Conclusion Little evidence for a role of somatic MYH11 mutations in the formation of breast or prostate cancers was obtained in this study.

Published
2008
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25. Cancer risk and tumour spectrum in 172 patients with a germline SUFUpathogenic variation: a collaborative study of the SIOPE Host Genome Working Group

Author

Guerrini-Rousseau, Léa, Masliah-Planchon, Julien, Waszak, Sebastian M, Alhopuro, Pia, Benusiglio, Patrick R, Bourdeaut, Franck, Brecht, Ines B, Del Baldo, Giada, Dhanda, Sandeep Kumar, Garrè, Maria Luisa, Gidding, Corrie E M, Hirsch, Steffen, Hoarau, Pauline, Jorgensen, Mette, Kratz, Christian, Lafay-Cousin, Lucie, Mastronuzzi, Angela, Pastorino, Lorenza, Pfister, Stefan M, Schroeder, Christopher, Smith, Miriam Jane, Vahteristo, Pia, Vibert, Roseline, Vilain, Catheline, Waespe, Nicolas, Winship, Ingrid M, Evans, D Gareth, and Brugieres, Laurence

Abstract

BackgroundLittle is known about risks associated with germline SUFUpathogenic variants (PVs) known as a cancer predisposition syndrome.MethodsTo study tumour risks, we have analysed data of a large cohort of 45 unpublished patients with a germline SUFUPV completed with 127 previously published patients. To reduce the ascertainment bias due to index patient selection, the risk of tumours was evaluated in relatives with SUFUPV (89 patients) using the Nelson-Aalen estimator.ResultsOverall, 117/172 (68%) SUFUPV carriers developed at least one tumour: medulloblastoma (MB) (86 patients), basal cell carcinoma (BCC) (25 patients), meningioma (20 patients) and gonadal tumours (11 patients). Thirty-three of them (28%) had multiple tumours. Median age at diagnosis of MB, gonadal tumour, first BCC and first meningioma were 1.5, 14, 40 and 44 years, respectively. Follow-up data were available for 160 patients (137 remained alive and 23 died). The cumulative incidence of tumours in relatives was 14.4% (95% CI 6.8 to 21.4), 18.2% (95% CI 9.7 to 25.9) and 44.1% (95% CI 29.7 to 55.5) at the age of 5, 20 and 50 years, respectively. The cumulative risk of an MB, gonadal tumour, BCC and meningioma at age 50 years was: 13.3% (95% CI 6 to 20.1), 4.6% (95% CI 0 to 9.7), 28.5% (95% CI 13.4 to 40.9) and 5.2% (95% CI 0 to 12), respectively. Sixty-four different PVs were reported across the entire SUFUgene and inherited in 73% of cases in which inheritance could be evaluated.ConclusionGermline SUFUPV carriers have a life-long increased risk of tumours with a spectrum dominated by MB before the age of 5, gonadal tumours during adolescence and BCC and meningioma in adulthood, justifying fine-tuned surveillance programmes.

Published
2022
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26. Loss of SUFU Function in Familial Multiple Meningioma

Author

Aavikko, Mervi, Li, Song-Ping, Saarinen, Silva, Alhopuro, Pia, Kaasinen, Eevi, Morgunova, Ekaterina, Li, Yilong, Vesanen, Kari, Smith, Miriam J., Evans, D. Gareth R., Pöyhönen, Minna, Kiuru, Anne, Auvinen, Anssi, Aaltonen, Lauri A., Taipale, Jussi, and Vahteristo, Pia

Published
2012
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27. Brush border Myosin Ia has tumor suppressor activity in the intestine

Author

Mazzolini, Rocco, primary, Dopeso, Higinio, additional, Mateo-Lozano, Silvia, additional, Chang, Wakam, additional, Rodrigues, Paulo, additional, Bazzocco, Sarah, additional, Alazzouzi, Hafid, additional, Landolfi, Stefania, additional, Hernández-Losa, Javier, additional, Andretta, Elena, additional, Alhopuro, Pia, additional, Espín, Eloy, additional, Armengol, Manel, additional, Tabernero, Josep, additional, Ramón y Cajal, Santiago, additional, Kloor, Matthias, additional, Gebert, Johannes, additional, Mariadason, John M., additional, Schwartz, Simo, additional, Aaltonen, Lauri A., additional, Mooseker, Mark S., additional, and Arango, Diego, additional

Published
2012
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28. Candidate driver genes in microsatellite-unstable colorectal cancer

Author

Alhopuro, Pia, primary, Sammalkorpi, Heli, additional, Niittymäki, Iina, additional, Biström, Mia, additional, Raitila, Anniina, additional, Saharinen, Juha, additional, Nousiainen, Kari, additional, Lehtonen, Heli J., additional, Heliövaara, Elina, additional, Puhakka, Jani, additional, Tuupanen, Sari, additional, Sousa, Sónia, additional, Seruca, Raquel, additional, Ferreira, Ana M., additional, Hofstra, Robert M. W., additional, Mecklin, Jukka-Pekka, additional, Järvinen, Heikki, additional, Ristimäki, Ari, additional, Ørntoft, Torben F., additional, Hautaniemi, Sampsa, additional, Arango, Diego, additional, Karhu, Auli, additional, and Aaltonen, Lauri A., additional

Published
2011
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29. Mutations in the Circadian Gene CLOCK in Colorectal Cancer

Author

Alhopuro, Pia, primary, Björklund, Mikael, additional, Sammalkorpi, Heli, additional, Turunen, Mikko, additional, Tuupanen, Sari, additional, Biström, Mia, additional, Niittymäki, Iina, additional, Lehtonen, Heli J., additional, Kivioja, Teemu, additional, Launonen, Virpi, additional, Saharinen, Juha, additional, Nousiainen, Kari, additional, Hautaniemi, Sampsa, additional, Nuorva, Kyösti, additional, Mecklin, Jukka-Pekka, additional, Järvinen, Heikki, additional, Orntoft, Torben, additional, Arango, Diego, additional, Lehtonen, Rainer, additional, Karhu, Auli, additional, Taipale, Jussi, additional, and Aaltonen, Lauri A., additional

Published
2010
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34. SMAD4 Levels and Response to 5-Fluorouracil in Colorectal Cancer

Author

Alhopuro, Pia, primary, Alazzouzi, Hafid, additional, Sammalkorpi, Heli, additional, Dávalos, Verónica, additional, Salovaara, Reijo, additional, Hemminki, Akseli, additional, Järvinen, Heikki, additional, Mecklin, Jukka-Pekka, additional, Schwartz, Simo, additional, Aaltonen, Lauri A., additional, and Arango, Diego, additional

Published
2005
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35. Mutations in Two Short Noncoding Mononucleotide Repeats in Most Microsatellite-Unstable Colorectal Cancers

Author

Hienonen, Tuija, primary, Sammalkorpi, Heli, additional, Enholm, Susa, additional, Alhopuro, Pia, additional, Barber, Thomas D., additional, Lehtonen, Rainer, additional, Nupponen, Nina N., additional, Lehtonen, Heli, additional, Salovaara, Reijo, additional, Mecklin, Jukka-Pekka, additional, Järvinen, Heikki, additional, Koistinen, Riitta, additional, Arango, Diego, additional, Launonen, Virpi, additional, Vogelstein, Bert, additional, Karhu, Auli, additional, and Aaltonen, Lauri A., additional

Published
2005
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36. SMAD4 as a Prognostic Marker in Colorectal Cancer

Author

Alazzouzi, Hafid, primary, Alhopuro, Pia, additional, Salovaara, Reijo, additional, Sammalkorpi, Heli, additional, Järvinen, Heikki, additional, Mecklin, Jukka-Pekka, additional, Hemminki, Akeseli, additional, Schwartz, Simo, additional, Aaltonen, Lauri A., additional, and Arango, Diego, additional

Published
2005
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39. An insertion/deletion polymorphism in the α2b-adrenergic receptor gene is a novel genetic risk factor for acute coronary events

Author

Snapir, Amir, primary, Heinonen, Paula, additional, Tuomainen, Tomi-Pekka, additional, Alhopuro, Pia, additional, Karvonen, Matti K, additional, Lakka, Timo A, additional, Nyyssönen, Kristiina, additional, Salonen, Riitta, additional, Kauhanen, Jussi, additional, Valkonen, Veli-Pekka, additional, Pesonen, Ullamari, additional, Koulu, Markku, additional, Scheinin, Mika, additional, and Salonen, Jukka T, additional

Published
2001
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40. Somatic mutation analysis of MYH11 in breast and prostate cancer.

Author

Alhopuro, Pia, Karhu, Auli, Winqvist, Robert, Waltering, Kati, Visakorpi, Tapio, and Aaltonen, Lauri A.

Subjects
GENETIC mutation, SOMATIC cells, BREAST cancer, PROSTATE cancer, SMOOTH muscle, MYOSIN, ACUTE myeloid leukemia, GENETICS
Abstract

Background: MYH11 (also known as SMMHC) encodes the smooth-muscle myosin heavy chain, which has a key role in smooth muscle contraction. Inversion at the MYH11 locus is one of the most frequent chromosomal aberrations found in acute myeloid leukemia. We have previously shown that MYH11 mutations occur in human colorectal cancer, and may also be associated with Peutz-Jeghers syndrome. The mutations found in human intestinal neoplasia result in unregulated proteins with constitutive motor activity, similar to the mutant myh11 underlying the zebrafish meltdown phenotype characterized by disrupted intestinal architecture. Recently, MYH1 and MYH9 have been identified as candidate breast cancer genes in a systematic analysis of the breast cancer genome. Methods: The aim of this study was to investigate the role of somatic MYH11 mutations in two common tumor types; breast and prostate cancers. A total of 155 breast cancer and 71 prostate cancer samples were analyzed for those regions in MYH11 (altogether 8 exons out of 42 coding exons) that harboured mutations in colorectal cancer in our previous study. Results: In breast cancer samples only germline alterations were observed. One prostate cancer sample harbored a frameshift mutation c.5798delC, which we have previously shown to result in a protein with unregulated motor activity. Conclusion: Little evidence for a role of somatic MYH11 mutations in the formation of breast or prostate cancers was obtained in this study. [ABSTRACT FROM AUTHOR]

Published
2008
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41. Mutation analysis of MYH11 in acute myeloid leukemia.

Author

Sammalkorpi, Heli, Alhopuro, Pia, Niittymäki, Iina, Ørntoft, Torben F., Hokland, Peter, Karhu, Auli, and Aaltonen, Lauri A.

Subjects
*LETTERS to the editor, *ACUTE myeloid leukemia
Abstract

A letter to the editor is presented in response to the article regarding MYH11 mutation analysis in acute myeloid leukemia.

Published
2008
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42. [Fever from the cold--familial cold autoinflammatory syndrome].

Author

Alhopuro P, Klimenko T, and Aittomäki K

Subjects
Adult, Female, Humans, Male, Mutation, NLR Family, Pyrin Domain-Containing 3 Protein, Pedigree, Amyloidosis, Familial genetics, Carrier Proteins genetics, Fever genetics
Abstract

Familial cold autoinflammatory syndrome (FCAS) is a dominantly inherited syndrome caused by mutations of the CIAS1 gene. It is characterized by recurrent episodes involving fever, urticaria, articular symptoms and conjunctivitis. The episodes may be associated with exposure to cold. In some families, association with reactive AA amyloidosis has been described for the syndrome. We describe a Finnish family, in which at least 16 persons were affected with FCAS, and one person had been diagnosed with renal amyloidosis.

Published
2009

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