Search Results - "Porkka, Noora"

Epidemiological, clinical and molecular characterization of Lynch‐like syndrome: A population‐based study by Porkka, Noora, Lahtinen, Laura, Ahtiainen, Maarit, Böhm, Jan P., Kuopio, Teijo, Eldfors, Samuli, Mecklin, Jukka‐Pekka, Seppälä, Toni T., Peltomäki, Päivi

“…Colorectal carcinomas that are mismatch repair (MMR)‐deficient in the absence of MLH1 promoter methylation or germline mutations represent Lynch‐like syndrome…”
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Does breast carcinoma belong to the Lynch syndrome tumor spectrum? - Somatic mutational profiles vs. ovarian and colorectal carcinomas by Porkka, Noora K, Olkinuora, Alisa, Kuopio, Teijo, Ahtiainen, Maarit, Eldfors, Samuli, Almusa, Henrikki, Mecklin, Jukka-Pekka, Peltomäki, Päivi

“…Inherited DNA mismatch repair (MMR) defects cause predisposition to colorectal, endometrial, ovarian, and other cancers occurring in Lynch syndrome (LS). It is…”
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Abstract 5369: Tumorigenesis in Lynch syndrome: Somatic mutation profiles compared to sporadic counterparts by Porkka, Noora, Olkinuora, Alisa, Mäki-Nevala, Satu, Eldfors, Samuli, Peltomäki, Päivi

“…Abstract Lynch syndrome (LS) is the most prevalent cancer predisposition syndrome in which germline mutation in one of four DNA mismatch repair (MMR) genes…”
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Converging endometrial and ovarian tumorigenesis in Lynch syndrome: Shared origin of synchronous carcinomas by Niskakoski, Anni, Pasanen, Annukka, Porkka, Noora, Eldfors, Samuli, Lassus, Heini, Renkonen-Sinisalo, Laura, Kaur, Sippy, Mecklin, Jukka-Pekka, Bützow, Ralf, Peltomäki, Päivi

“…The diagnosis of carcinoma in both the uterus and the ovary simultaneously is not uncommon and raises the question of synchronous primaries vs. metastatic…”
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Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations by Porkka, Noora, Valo, Satu, Nieminen, Taina T, Olkinuora, Alisa, Mäki-Nevala, Satu, Eldfors, Samuli, Peltomäki, Päivi

“…Genomic instability and epigenetic aberrations are important classifiers of human tumors, yet, their interrelations are poorly understood. We used Lynch…”
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Abstract 4491: Pseudoexons may underlie unbalanced expression of APC alleles in familial adenomatous polyposis by Nieminen, Taina Tuulikki, Pavicic, Walter, Porkka, Noora, Jarvinen, Heikki J., Lepisto, Anna, Peltomaki, Paivi

“…Abstract Familial Adenomatous Polyposis (FAP) is caused by germline mutations in the APC gene. Clinically, the disease can be subdivided into classical FAP…”
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Pseudoexons provide a mechanism for allele-specific expression of APC in familial adenomatous polyposis by Nieminen, Taina T, Pavicic, Walter, Porkka, Noora, Kankainen, Matti, Järvinen, Heikki J, Lepistö, Anna, Peltomäki, Päivi

“…Allele-specific expression (ASE) of the Adenomatous Polyposis Coli (APC) gene occurs in up to one-third of families with adenomatous polyposis (FAP) that have…”
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Genetic alterations in periprosthetic soft-tissue masses from patients with metal-on-metal hip replacement by Sarhadi, Virinder Kaur, Parkkinen, Jyrki, Reito, Aleksi, Nieminen, Jyrki, Porkka, Noora, Wirtanen, Tiina, Laitinen, Minna, Eskelinen, Antti, Knuutila, Sakari

“…Adverse soft tissue reactions in patients with metal-on-metal (MoM) hip replacement are associated with cobalt (Co) and chromium (Cr) particles released from…”
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