Veli-Matti Kosma

Genetic liability to psoriasis predicts severe disease outcomes

Jake Saklatvala, Samuel Lessard, Maris Teder‐Laving, Laurent F. Thomas et autres

BACKGROUND: Psoriasis is a common inflammatory skin disease with heterogeneous presentation. Up to 30% of individuals have severe disease with a greater surface area of skin involvement, co-morbidity burden and impact on quality of life. Prognostic biomarkers of psoriasis severity could improve …

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Large-scale genome-wide analyses with proteomics integration reveal novel loci and biological insights into frailty

Jonathan K. L. Mak, Chenxi Qin, M J T Krüger, Anna Kuukka et autres

Abstract Frailty is a clinically relevant phenotype with notable gaps in our understanding of its etiology. Using the Hospital Frailty Risk Score (HFRS) to define frailty, we performed a genome-wide association study in FinnGen (N = 500,737), replicated the results in the …

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High expression of miR-7974 predicts poor prognosis and is associated with autophagy in estrogen receptor-positive breast cancer

Stralina Eneh, Jaana M. Hartikainen, Sami Heikkinen, Reijo Sironen et autres

Estrogen receptor-positive (ER+) breast cancers (BC) cause death despite well-established treatments. MicroRNAs (miRNAs) have potential as biomarkers specific to cancer subtypes and tissues, therefore miRNA-based biomarkers could help improve patient survival. In this study, we investigated a relatively unknown miRNA, miR-7974. We …

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Circulating Micro-RNAs Predict the Risk of Recurrence in Triple-Negative Breast Cancer

Jouni Kujala, Maria Tengström, Sami Heikkinen, Mari Taipale et autres

Triple-negative breast cancer (TNBC) is an aggressive subtype of breast cancer with a high tendency for developing a recurrent disease. Circulating micro-RNAs (cmiRNAs) obtained through liquid biopsy are potential prognostic biomarkers for the assessment of TNBC recurrence risk. In this study, we …

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Genetic Susceptibility to Acute Viral Bronchiolitis

Anu Pasanen, Minna K. Karjalainen, Matti Korppi, Mikko Hallman et autres

BACKGROUND: Acute viral bronchiolitis is a major cause of infant hospitalizations worldwide. Childhood bronchiolitis is considered a risk factor for asthma, suggesting shared genetic factors and biological pathways. Genetic risk loci may provide new insights into disease pathogenesis. METHODS: We conducted a …

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Correction: Publisher Correction: Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation

Maya Ghoussaini, Stacey L. Edwards, Kyriaki Michailidou, Silje Nord et autres

Nature Communications 5: Article number: 4999 (2014); Published: 23 September 2014; Updated: 10 April 2018 The original version of this Article had an incorrect volume number of 4; it should have been 5. This has now been corrected in both the PDF …

Joint associations of a polygenic risk score and environmental risk factors for breast cancer in the Breast Cancer Association Consortium

Anja Rudolph, Minsun Song, Mark N. Brook, Roger L. Milne et autres

Background: Polygenic risk scores (PRS) for breast cancer can be used to stratify the population into groups at substantially different levels of risk. Combining PRS and environmental risk factors will improve risk prediction; however, integrating PRS into risk prediction models requires evaluation …

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Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus

Hisani N. Horne, Charles C. Chung, Han Zhang, Kai Yu et autres

The Cancer Genetic Markers of Susceptibility genome-wide association study (GWAS) originally identified a single nucleotide polymorphism (SNP) rs11249433 at 1p11.2 associated with breast cancer risk. To fine-map this locus, we genotyped 92 SNPs in a 900kb region (120,505,799-121,481,132) flanking rs11249433 in 45,276 …

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Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

Fergus J. Couch, Karoline Kuchenbaecker, Kyriaki Michailidou, Gustavo Mendoza-Fandiño et autres

Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P<5 × 10(-8)) with oestrogen receptor (ER)-negative breast cancer and BRCA1-associated breast cancer risk. In this study, to identify new ER-negative susceptibility loci, we …

us, gb, no, it, fi, ca, de, se, is, es, dk, au, br, be, fr, nl, ps, ua, Afrique du Sud, gr, il, pl (code pays fourni par la source)

Heterogeneity of luminal breast cancer characterised by immunohistochemical expression of basal markers

Hyuna Sung, Montserrat García‐Closas, Jenny Chang‐Claude, Fiona M. Blows et autres

BACKGROUND: Luminal A breast cancer defined as hormone receptor positive and human epidermal growth factor receptor 2 (HER2) negative is known to be heterogeneous. Previous study showed that luminal A tumours with the expression of basal markers ((cytokeratin (CK) 5 or CK5/6) …

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A polymorphism in the base excision repair gene PARP2 is associated with differential prognosis by chemotherapy among postmenopausal breast cancer patients

Petra Seibold, Peter Schmezer, Sabine Behrens, Kyriaki Michailidou et autres

BACKGROUND: Personalized therapy considering clinical and genetic patient characteristics will further improve breast cancer survival. Two widely used treatments, chemotherapy and radiotherapy, can induce oxidative DNA damage and, if not repaired, cell death. Since base excision repair (BER) activity is specific for …

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BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers

Huong Meeks, Honglin Song, Kyriaki Michailidou, Manjeet K. Bolla et autres

BACKGROUND: The K3326X variant in BRCA2 (BRCA2*c.9976A>T; p.Lys3326*; rs11571833) has been found to be associated with small increased risks of breast cancer. However, it is not clear to what extent linkage disequilibrium with fully pathogenic mutations might account for this association. There …

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