Search Results - "Launonen, V"

Increased risk of cancer in patients with fumarate hydratase germline mutation by Lehtonen, H J, Kiuru, M, Ylisaukko-oja, S K, Salovaara, R, Herva, R, Koivisto, P A, Vierimaa, O, Aittomäki, K, Pukkala, E, Launonen, V, Aaltonen, L A

“…Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a tumour predisposition syndrome caused by heterozygous germline mutations in the fumarate hydratase…”
Get full text

Mutation analysis of aryl hydrocarbon receptor interacting protein (AIP) gene in colorectal, breast, and prostate cancers by GEORGITSI, M, KARHU, A, WINQVIST, R, VISAKORPI, T, WALTERING, K, VAHTERISTO, P, LAUNONEN, V, AALTONEN, L. A

“…Germline mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene were recently identified in individuals with pituitary adenoma…”
Get full text

LKB1 exonic and whole gene deletions are a common cause of Peutz-Jeghers syndrome by Volikos, E, Robinson, J, Aittomäki, K, Mecklin, J-P, Järvinen, H, Westerman, A M, de Rooji, F W M, Vogel, T, Moeslein, G, Launonen, V, Tomlinson, I P M, Silver, A R J, Aaltonen, L A

“…Background:LKB1/STK11 germline mutations cause Peutz-Jeghers syndrome (PJS). The existence of a second PJS locus is controversial, the evidence in its favour…”
Get full text

Microsatellite marker analysis in screening for hereditary nonpolyposis colorectal cancer (HNPCC) by LOUKOLA, Anu, EKLIN, Katja, LAIHO, Päivi, SALOVAARA, Reijo, KRISTO, Paula, JÄRVINEN, Heikki, MECKLIN, Jukka-Pekka, LAUNONEN, Virpi, AALTONEN, Lauri A

“…Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant cancer predisposition syndrome caused by germ-line mutations in DNA mismatch repair…”
Get full text

No evidence of somatic aryl hydrocarbon receptor interacting protein mutations in sporadic endocrine neoplasia by Raitila, A, Georgitsi, M, Karhu, A, Tuppurainen, K, Mäkinen, M J, Birkenkamp-Demtröder, K, Salmenkivi, K, Ørntoft, T F, Arola, J, Launonen, V, Vahteristo, P, Aaltonen, L A

“…Germline mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene were recently observed in patients with pituitary adenoma predisposition…”
Get full text

Frequent loss of SMAD4/DPC4 protein in colorectal cancers by Salovaara, R, Roth, S, Loukola, A, Launonen, V, Sistonen, P, Avizienyte, E, Kristo, P, Järvinen, H, Souchelnytskyi, S, Sarlomo-Rikala, M, Aaltonen, L A

“…Background and aims: Loss of DNA sequences from chromosome 18q21 is a major genetic change in colorectal tumorigenesis. Multiple genes have been identified in…”
Get full text

Mutation analysis of the CHK2 gene in families with hereditary breast cancer by ALLINEN, M, HUUSKO, P, MÄNTYNIEMI, S, LAUNONEN, V, WINQVIST, R

“…Recently CHK2 was functionally linked to the p53 pathway, and mutations in these two genes seem to result in a similar Li-Fraumeni syndrome (LFS) or…”
Get full text

No evidence for dual role of loss of heterozygosity in hereditary non-polyposis colorectal cancer by TUUPANEN, S, KARHU, A, JÄRVINEN, H, MECKLIN, J. P, LAUNONEN, V, AALTONEN, L. A

“…Hereditary non-polyposis colorectal cancer (HNPCC) is caused by germline mutations in mismatch repair (MMR) genes, mostly MLH1 and MSH2. Somatic inactivation…”
Get full text

Mutation analysis of three genes encoding novel LKB1-interacting proteins, BRG1, STRADα, and MO25α, in Peutz–Jeghers syndrome by Alhopuro, P, Katajisto, P, Lehtonen, R, Ylisaukko-oja, S K, Näätsaari, L, Karhu, A, Westerman, A M, Wilson, J H P, de Rooij, F W M, Vogel, T, Moeslein, G, Tomlinson, I P, Aaltonen, L A, Mäkelä, T P, Launonen, V

“…Mutations in LKB1 lead to Peutz-Jeghers syndrome (PJS). However, only a subset of PJS patients harbours LKB1 mutations. We performed a mutation analysis of…”
Get full text

Aryl hydrocarbon receptor interacting protein mutations seem not to associate with familial non-medullary thyroid cancer by Raitila, A., Georgitsi, M., Bonora, E., Vargiolu, M., Tuppurainen, K., Mäkinen, M. J., Vierimaa, O., Salmela, P. I., Launonen, V., Vahteristo, P., Aaltonen, L. A., Romeo, G., Karhu, Auli

“…Background : Over 95% of all thyroid malignancies are non-medullary thyroid carcinomas (NMTC). Familial NMTC are more aggressive and mortality is higher as…”
Get full text

No SMAD4 hypermethylation in colorectal cancer by ROTH, S, LAIHO, P, SALOVAARA, R, LAUNONEN, V, AALTONEN, L. A

“…The chromosome region 18q21 is frequently deleted in colorectal cancers. Three candidate tumour suppressor genes, DCC, SMAD4 and SMAD2, map to this region. The…”
Get full text

Screening for microsatellite instability target genes in colorectal cancers by Vilkki, S, Launonen, V, Karhu, A, Sistonen, P, Västrik, I, Aaltonen, L A

“…Background: Defects in the DNA repair system lead to genetic instability because replication errors are not corrected. This type of genetic instability is a…”
Get full text

Germline and Somatic Mutation Analysis of MLH3 in MSI-Positive Colorectal Cancer by Loukola, Anu, Vilkki, Susa, Singh, Jaskiran, Launonen, Virpi, Aaltonen, Lauri A.

“…Microsatellite instability (MSI) is characteristic of hereditary nonpolyposis colorectal cancer, and occurs in a subset (10 to 15%) of unselected colorectal…”
Get full text

Evidence of Founder Mutations in Finnish BRCA1 and BRCA2 Families by Huusko, Pia, Pääkkönen, Kati, Launonen, Virpi, Pöyhönen, Minna, Blanco, Guillermo, Kauppila, Antti, Puistola, Ulla, Kiviniemi, Heikki, Kujala, Marika, Leisti, Jaakko, Winqvist, Robert

Get full text

E-cadherin is not frequently mutated in hereditary gastric cancer by AVIZIENYTE, Egle, LAUNONEN, Virpi, SALOVAARA, Reijo, KIVILUOTO, Tuula, AALTONEN, Lauri A

Get full text

Chromosome 11q22.3-q25 LOH in Ovarian Cancer: Association with a More Aggressive Disease Course and Involved Subregions by Launonen, Virpi, Stenbäck, Frej, Puistola, Ulla, Bloigu, Risto, Huusko, Pia, Kytölä, Soili, Kauppila, Antti, Winqvist, Robert

“…Chromosome 11q deletions are common in various malignancies, including ovarian cancer. However, the clinical significance of these genetic lesions as well as…”
Get full text

Mutation and LOH analysis of ACO2 in colorectal cancer: no evidence of biallelic genetic inactivation by Laiho, P, Hienonen, T, Mecklin, J-P, Järvinen, H, Karhu, A, Launonen, V, Aaltonen, L A

Get full text

MED12, the Mediator Complex Subunit 12 Gene, Is Mutated at High Frequency in Uterine Leiomyomas by MÄKINEN, Netta, MEHINE, Miika, AAVIKKO, Mervi, KATAINEN, Riku, VIROLAINEN, Elina, BÖHLING, Tom, KOSKI, Taru A, LAUNONEN, Virpi, SJÖBERG, Jari, TAIPALE, Jussi, VAHTERISTO, Pia, AALTONEN, Lauri A, TOLVANEN, Jaana, KAASINEN, Eevi, YILONG LI, LEHTONEN, Heli J, GENTILE, Massimiliano, JIAN YAN, ENGE, Martin, TAIPALE, Minna

“…Uterine leiomyomas, or fibroids, are benign tumors that affect millions of women worldwide and that can cause considerable morbidity. To study the genetic…”
Get full text

ATM mutations in Finnish breast cancer patients by Allinen, M, Launonen, V, Laake, K, Jansen, L, Huusko, P, Kääriäinen, H, Børresen-Dale, A-L, Winqvist, R

Get full text

Mutation analysis of BRCA1 and BRCA2 in Turkish cancer families: a novel mutation BRCA2 3414del4 found in male breast cancer by Balcı, A, Huusko, P, Pääkkönen, K, Launonen, V, Üner, A, Ekmekçi, A, Winqvist, R

“…Since the identification of the BRCA1 and BRCA2 breast–ovarian cancer susceptibility genes, mutation analyses have been carried out in different populations…”
Get full text