Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Susanna Koivuluoma"'
Autor:
Timo A Kumpula, Sandra Vorimo, Taneli T Mattila, Luke O'Gorman, Galuh Astuti, Anna Tervasmäki, Susanna Koivuluoma, Tiina M Mattila, Mervi Grip, Robert Winqvist, Outi Kuismin, Jukka Moilanen, Alexander Hoischen, Christian Gilissen, Tuomo Mantere, Katri Pylkäs
Publikováno v:
PLoS Genetics, Vol 19, Iss 8, p e1010889 (2023)
Copy number variants (CNVs) are a major source of genetic variation and can disrupt genes or affect gene dosage. They are known to be causal or underlie predisposition to various diseases. However, the role of CNVs in inherited breast cancer suscepti
Externí odkaz:
https://doaj.org/article/39bcaeff36374f21a232d35722e005e7
Autor:
Timo Kumpula, Anna Tervasmäki, Tuomo Mantere, Susanna Koivuluoma, Laura Huilaja, Kaisa Tasanen, Robert Winqvist, Richarda M. deVoer, Katri Pylkäs
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 11, Pp n/a-n/a (2020)
ABSTRACT Background Rare protein truncating variants of NTHL1 gene are causative for the recently described, recessively inherited NTHL1 tumor syndrome that is characterized by an increased lifetime risk for colorectal cancer, colorectal polyposis, a
Externí odkaz:
https://doaj.org/article/2b80213427474918929055ee28d4513a
Autor:
Timo A. Kumpula, Susanna Koivuluoma, Leila Soikkonen, Sandra Vorimo, Jukka Moilanen, Robert Winqvist, Tuomo Mantere, Outi Kuismin, Katri Pylkäs
Publikováno v:
Familial Cancer.
CHEK2 is a well-established breast cancer susceptibility gene. The most frequent pathogenic CHEK2 variant is 1100delC, a loss-of-function mutation conferring 2-fold risk for breast cancer. This gene also harbors other rare variants encountered in the
Autor:
Susanna Koivuluoma, Sandra Vorimo, Tiina M. Mattila, Anna Tervasmäki, Timo Kumpula, Outi Kuismin, Robert Winqvist, Jukka Moilanen, Tuomo Mantere, Katri Pylkäs
TINF2 is a critical subunit of the shelterin complex, which protects and maintains the length of telomeres. Pathogenic missense and truncating TINF2 mutations are causative for dyskeratosis congenita (DC), a rare, dominantly inherited bone marrow fai
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f82ca51eaee43bed77387d88cb2876ed
http://urn.fi/urn:nbn:fi-fe2023053150756
http://urn.fi/urn:nbn:fi-fe2023053150756
Autor:
Susanna Koivuluoma, Seppo Helisalmi, Anita Korpioja, Anne M. Remes, Virpi Moilanen, Johanna Krüger, Katri Pylkäs, Mikko Hiltunen
Publikováno v:
Journal of Alzheimer's Disease. 82:761-770
Background: Rare variants of SORL1 have been associated with an increased risk of early-onset or late-onset Alzheimer’s disease (AD). However, a lot remains to be clarified about their significance in the pathogenesis of the disease. Objective: To
Autor:
Anna Tervasmäki, Robert Winqvist, Jukka S. Moilanen, Timo Kumpula, Saila Kauppila, Susanna Koivuluoma, Katri Pylkäs, Outi Kuismin
Publikováno v:
European journal of cancer (Oxford, England : 1990). 143
Background Breast cancer is strongly influenced by hereditary risk factors. Yet, the known susceptibility genes and genomic loci explain only about half of the familial component of the disease. To identify novel breast cancer predisposing gene defec
Autor:
Robert Winqvist, Outi Kuismin, Susanna Koivuluoma, Katri Pylkäs, Jukka S. Moilanen, Riikka Keski-Filppula
Publikováno v:
Genetics in Medicine
Purpose Some 10% of familial adenomatous polyposis (FAP) and 80% of attenuated polyposis (AFAP) cases remain molecularly unexplained. We scrutinized such cases by exome-wide and targeted methods to search for novel susceptibility genes. Methods Exome
Autor:
Arto Mannermaa, Saila Kauppila, Katri Pylkäs, Mervi Grip, Arja Jukkola-Vuorinen, Robert Winqvist, Tuomo Mantere, Susanna Koivuluoma, Peeter Karihtala, Jaana M. Hartikainen, Anna Tervasmäki, Hang-Mao Lee
Publikováno v:
International Journal of Cancer. 142:2286-2292
Several known breast cancer susceptibility genes with moderate-to-high risk alleles encode proteins involved in DNA damage response (DDR). As these explain less than half of the hereditary breast cancer cases, additional predisposing alleles are like
Autor:
Raman Devarajan, Hellevi Peltoketo, Tuomo Mantere, Niina Laurila, Susanna Koivuluoma, Anna Tervasmäki, Hanna Tuppurainen, Leila Eshraghi, Katri Pylkäs, Veli-Pekka Ronkainen
Publikováno v:
International Journal of Cancer
Strong inherited predisposition to breast cancer is estimated to cause about 5–10% of all breast cancer cases. As the known susceptibility genes, such as BRCA1 and BRCA2, explain only a fraction of this, additional predisposing genes and related bi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17277b7b0aafad0610115ebbafbb79d0
http://urn.fi/urn:nbn:fi-fe2019093030494
http://urn.fi/urn:nbn:fi-fe2019093030494
Autor:
Anna, Tervasmäki, Tuomo, Mantere, Jaana M, Hartikainen, Saila, Kauppila, Hang-Mao, Lee, Susanna, Koivuluoma, Mervi, Grip, Peeter, Karihtala, Arja, Jukkola-Vuorinen, Arto, Mannermaa, Robert, Winqvist, Katri, Pylkäs
Publikováno v:
International journal of cancer. 142(11)
Several known breast cancer susceptibility genes with moderate-to-high risk alleles encode proteins involved in DNA damage response (DDR). As these explain less than half of the hereditary breast cancer cases, additional predisposing alleles are like