Liisa M. Pelttari
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View article: NTHL1 is a recessive cancer susceptibility gene
NTHL1 is a recessive cancer susceptibility gene Open
In search of novel breast cancer (BC) risk variants, we performed a whole-exome sequencing and variant analysis of 69 Finnish BC patients as well as analysed loss-of-function variants identified in DNA repair genes in the Finns from the Ge…
View article: Supplementary Figure 1 from <i>HOXB13</i> G84E Mutation in Finland: Population-Based Analysis of Prostate, Breast, and Colorectal Cancer Risk
Supplementary Figure 1 from <i>HOXB13</i> G84E Mutation in Finland: Population-Based Analysis of Prostate, Breast, and Colorectal Cancer Risk Open
PDF file - 90K, The first row shows the amino acid sequence. In the second row the predicted secondary structure is illustrated with blue (coil), red (alpha-helix) and green (beta-strand) bars. In the third row numerical value for the conf…
View article: Supplementary Table 5 from <i>HOXB13</i> G84E Mutation in Finland: Population-Based Analysis of Prostate, Breast, and Colorectal Cancer Risk
Supplementary Table 5 from <i>HOXB13</i> G84E Mutation in Finland: Population-Based Analysis of Prostate, Breast, and Colorectal Cancer Risk Open
PDF file - 43K, Table shows 30 amino acids having the lowest relative solvent accessibilities. The first column indicates the predicted class for the amino acid denoted by the letters B (buried) and E (exposed). Second Column shows the ami…
View article: Supplementary Table 1 from <i>HOXB13</i> G84E Mutation in Finland: Population-Based Analysis of Prostate, Breast, and Colorectal Cancer Risk
Supplementary Table 1 from <i>HOXB13</i> G84E Mutation in Finland: Population-Based Analysis of Prostate, Breast, and Colorectal Cancer Risk Open
PDF file - 84K, Different sample types included in the analyses are presented in this file.
View article: Supplementary Table 2 from <i>HOXB13</i> G84E Mutation in Finland: Population-Based Analysis of Prostate, Breast, and Colorectal Cancer Risk
Supplementary Table 2 from <i>HOXB13</i> G84E Mutation in Finland: Population-Based Analysis of Prostate, Breast, and Colorectal Cancer Risk Open
PDF file - 47K, Presentation of segregation analysis.
View article: Data from <i>HOXB13</i> G84E Mutation in Finland: Population-Based Analysis of Prostate, Breast, and Colorectal Cancer Risk
Data from <i>HOXB13</i> G84E Mutation in Finland: Population-Based Analysis of Prostate, Breast, and Colorectal Cancer Risk Open
Background: A recently identified germline mutation G84E in HOXB13 was shown to increase the risk of prostate cancer. In a family-based analysis by The International Consortium for Prostate Cancer Genetics (ICPCG), the G84E m…
View article: Supplementary Table 2 from <i>HOXB13</i> G84E Mutation in Finland: Population-Based Analysis of Prostate, Breast, and Colorectal Cancer Risk
Supplementary Table 2 from <i>HOXB13</i> G84E Mutation in Finland: Population-Based Analysis of Prostate, Breast, and Colorectal Cancer Risk Open
PDF file - 47K, Presentation of segregation analysis.
View article: Supplementary Table 1 from <i>HOXB13</i> G84E Mutation in Finland: Population-Based Analysis of Prostate, Breast, and Colorectal Cancer Risk
Supplementary Table 1 from <i>HOXB13</i> G84E Mutation in Finland: Population-Based Analysis of Prostate, Breast, and Colorectal Cancer Risk Open
PDF file - 84K, Different sample types included in the analyses are presented in this file.
View article: Supplementary Figure 1 from <i>HOXB13</i> G84E Mutation in Finland: Population-Based Analysis of Prostate, Breast, and Colorectal Cancer Risk
Supplementary Figure 1 from <i>HOXB13</i> G84E Mutation in Finland: Population-Based Analysis of Prostate, Breast, and Colorectal Cancer Risk Open
PDF file - 90K, The first row shows the amino acid sequence. In the second row the predicted secondary structure is illustrated with blue (coil), red (alpha-helix) and green (beta-strand) bars. In the third row numerical value for the conf…
View article: Supplementary Table 5 from <i>HOXB13</i> G84E Mutation in Finland: Population-Based Analysis of Prostate, Breast, and Colorectal Cancer Risk
Supplementary Table 5 from <i>HOXB13</i> G84E Mutation in Finland: Population-Based Analysis of Prostate, Breast, and Colorectal Cancer Risk Open
PDF file - 43K, Table shows 30 amino acids having the lowest relative solvent accessibilities. The first column indicates the predicted class for the amino acid denoted by the letters B (buried) and E (exposed). Second Column shows the ami…
View article: Supplementary Table 4 from <i>HOXB13</i> G84E Mutation in Finland: Population-Based Analysis of Prostate, Breast, and Colorectal Cancer Risk
Supplementary Table 4 from <i>HOXB13</i> G84E Mutation in Finland: Population-Based Analysis of Prostate, Breast, and Colorectal Cancer Risk Open
PDF file - 39K, The first column indicates the predicted class for the amino acid denoted by the letters B (buried) and E (exposed). Second Column shows the amino acid while in third column the amino acid position is indicated. Fourth colu…
View article: Supplementary Table 3 from <i>HOXB13</i> G84E Mutation in Finland: Population-Based Analysis of Prostate, Breast, and Colorectal Cancer Risk
Supplementary Table 3 from <i>HOXB13</i> G84E Mutation in Finland: Population-Based Analysis of Prostate, Breast, and Colorectal Cancer Risk Open
PDF file - 38K, Table includes the results of six tolerance predictors and two protein stability predictors included in Pon-P selected for in silico analysis.
View article: Data from <i>HOXB13</i> G84E Mutation in Finland: Population-Based Analysis of Prostate, Breast, and Colorectal Cancer Risk
Data from <i>HOXB13</i> G84E Mutation in Finland: Population-Based Analysis of Prostate, Breast, and Colorectal Cancer Risk Open
Background: A recently identified germline mutation G84E in HOXB13 was shown to increase the risk of prostate cancer. In a family-based analysis by The International Consortium for Prostate Cancer Genetics (ICPCG), the G84E m…
View article: Supplementary Table 3 from <i>HOXB13</i> G84E Mutation in Finland: Population-Based Analysis of Prostate, Breast, and Colorectal Cancer Risk
Supplementary Table 3 from <i>HOXB13</i> G84E Mutation in Finland: Population-Based Analysis of Prostate, Breast, and Colorectal Cancer Risk Open
PDF file - 38K, Table includes the results of six tolerance predictors and two protein stability predictors included in Pon-P selected for in silico analysis.
View article: Supplementary Table 4 from <i>HOXB13</i> G84E Mutation in Finland: Population-Based Analysis of Prostate, Breast, and Colorectal Cancer Risk
Supplementary Table 4 from <i>HOXB13</i> G84E Mutation in Finland: Population-Based Analysis of Prostate, Breast, and Colorectal Cancer Risk Open
PDF file - 39K, The first column indicates the predicted class for the amino acid denoted by the letters B (buried) and E (exposed). Second Column shows the amino acid while in third column the amino acid position is indicated. Fourth colu…
View article: Correction to: Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia
Correction to: Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia Open
View article: Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia
Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia Open
View article: Diagnostic Utility of Next-Generation Sequencing-Based Panel Testing in 543 Patients with Suspected Skeletal Dysplasia
Diagnostic Utility of Next-Generation Sequencing-Based Panel Testing in 543 Patients with Suspected Skeletal Dysplasia Open
Background: Skeletal dysplasia is typically diagnosed using a combination of radiographic imaging, clinical examinations, and molecular testing. Identifying a molecular diagnosis for an individual with a skeletal dysplasia can lead to impr…
View article: New VOUS in
New VOUS in Open
We present the case of a three-year-old girl with normal family history who was admitted to our hospital for medical recovery. The patient had microcephaly, pontocerebellar hypoplasia, slight facial dysmorphism, axial hypotonia, epileptic …
View article: Additional file 2 of Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia
Additional file 2 of Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia Open
Additional file 2. Diagnostic prenatal variants.
View article: Additional file 1 of Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia
Additional file 1 of Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia Open
Additional file 1. Variants in non-diagnostic cases with suspicious VUSes.
View article: Additional file 3 of Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia
Additional file 3 of Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia Open
Additional file 3. Panel gene content and targeted non-coding variants.
View article: Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in <i>RAD51C</i> and <i>RAD51D</i>
Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in <i>RAD51C</i> and <i>RAD51D</i> Open
Background The purpose of this study was to estimate precise age-specific tubo-ovarian carcinoma (TOC) and breast cancer (BC) risks for carriers of pathogenic variants in RAD51C and RAD51D. Methods We analyzed data from 6178 families, 125 …
View article: Recurrent moderate‐risk mutations in Finnish breast and ovarian cancer patients
Recurrent moderate‐risk mutations in Finnish breast and ovarian cancer patients Open
Mutations in BRCA1 and BRCA2 genes predispose to breast and ovarian cancer (BC/OC) with a high lifetime risk, whereas mutations in PALB2 , CHEK2 , ATM , FANCM , RAD51C and RAD51D genes cause a moderately elevated risk. In the Finnish popul…
View article: rs495139 in the TYMS-ENOSF1 Region and Risk of Ovarian Carcinoma of Mucinous Histology
rs495139 in the TYMS-ENOSF1 Region and Risk of Ovarian Carcinoma of Mucinous Histology Open
Thymidylate synthase (TYMS) is a crucial enzyme for DNA synthesis. TYMS expression is regulated by its antisense mRNA, ENOSF1. Disrupted regulation may promote uncontrolled DNA synthesis and tumor growth. We sought to replicate our previou…
View article: Genetics of Breast and Ovarian Cancer Predisposition with a Focus on RAD51C and RAD51D Genes
Genetics of Breast and Ovarian Cancer Predisposition with a Focus on RAD51C and RAD51D Genes Open
Breast and ovarian cancers are common cancers affecting women. Family history of the disease is a major risk factor for both cancers. Even though several susceptibility alleles have been identified, genetic predisposition to breast and ova…
View article: Variants in genes encoding small GTPases and association with epithelial ovarian cancer susceptibility
Variants in genes encoding small GTPases and association with epithelial ovarian cancer susceptibility Open
Epithelial ovarian cancer (EOC) is the fifth leading cause of cancer mortality in American women. Normal ovarian physiology is intricately connected to small GTP binding proteins of the Ras superfamily (Ras, Rho, Rab, Arf, and Ran) which g…
View article: Adult height is associated with increased risk of ovarian cancer: a Mendelian randomisation study
Adult height is associated with increased risk of ovarian cancer: a Mendelian randomisation study Open
Women with a genetic propensity to being taller have increased risk of ovarian cancer. This suggests genes influencing height are involved in pathways promoting ovarian carcinogenesis.
View article: Assessment of moderate coffee consumption and risk of epithelial ovarian cancer: a Mendelian randomization study
Assessment of moderate coffee consumption and risk of epithelial ovarian cancer: a Mendelian randomization study Open
We found no evidence indicative of a strong association between EOC risk and genetically predicted coffee or caffeine levels. However, our estimates were not statistically inconsistent with earlier observational studies and we were unable …
View article: CHEK2 c.1100delC mutation is associated with an increased risk for male breast cancer in Finnish patient population
CHEK2 c.1100delC mutation is associated with an increased risk for male breast cancer in Finnish patient population Open
These data suggest that the CHEK2 c.1100delC mutation is associated with an increased risk for MBC in the Finnish population.