Johanna Rantala

article

Transcriptome‐wide association study of breast cancer risk by estrogen‐receptor status

Helian Feng, Alexander Gusev, Bogdan Pasaniuc, Lang Wu, more

Genetic Epidemiology > 44 > 5 > 442 - 468

Previous transcriptome‐wide association studies (TWAS) have identified breast cancer risk genes by integrating data from expression quantitative loci and genome‐wide association studies (GWAS), but analyses of breast cancer subtype‐specific associations have been limited. In this study, we conducted a TWAS using gene expression data from GTEx and summary statistics from the hitherto largest GWAS meta‐analysis...

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Description of two Serratia marcescens associated mastitis outbreaks in Finnish dairy farms and a review of literature

Mari Johanna Friman, Marjut Hannele Eklund, Anna Helena Pitkälä, Päivi Johanna Rajala-Schultz, more

Acta Veterinaria Scandinavica > 2019 > 61 > 1 > 1-11

Background Infection with Serratia spp. have been associated with mastitis outbreaks in dairy cattle herds. Environmental contamination or a point source, like a teat dip product, have often been observed to be potential sources of such outbreaks. We describe two Serratia marcescens associated mastitis outbreaks associated with a contaminated teat dip containing a tertiary alkyl amine, n,n-bis (3-aminopropyl)...

article

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

Timothy R. Rebbeck, Tara M. Friebel, Eitan Friedman, Ute Hamann, more

Human Mutation > 39 > 5 > 593 - 620

The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been reported in single populations, with the majority of reports focused on White in Europe and North America. The Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) has assembled data on 18,435 families with BRCA1 mutations and 11,351 families with BRCA2 mutations ascertained from 69 centers in 49 countries on six...

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Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3

Yosr Hamdi, Penny Soucy, Karoline B. Kuchenbaeker, Tomi Pastinen, more

Breast Cancer Research and Treatment > 2017 > 161 > 1 > 117-134

Purpose Cis-acting regulatory SNPs resulting in differential allelic expression (DAE) may, in part, explain the underlying phenotypic variation associated with many complex diseases. To investigate whether common variants associated with DAE were involved in breast cancer susceptibility among BRCA1 and BRCA2 mutation carriers, a list of 175 genes was developed based of their involvement in cancer-related...

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Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

Valentina Silvestri, Daniel Barrowdale, Anna Marie Mulligan, Susan L. Neuhausen, more

Breast Cancer Research > 2016 > 18 > 1 > 1-13

Background BRCA1 and, more commonly, BRCA2 mutations are associated with increased risk of male breast cancer (MBC). However, only a paucity of data exists on the pathology of breast cancers (BCs) in men with BRCA1/2 mutations. Using the largest available dataset, we determined whether MBCs arising in BRCA1/2 mutation carriers display specific pathologic features and whether these features differ...

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An international survey of surveillance schemes for unaffected BRCA1 and BRCA2 mutation carriers

Dana Madorsky-Feldman, Miri Sklair-Levy, Tamar Perri, Yael Laitman, more

Breast Cancer Research and Treatment > 2016 > 157 > 2 > 319-327

Female BRCA1/BRCA2 mutation carriers are at substantially increased risk for developing breast and/or ovarian cancer, and are offered enhanced surveillance including screening from a young age and risk-reducing surgery (RRS)—mastectomy (RRM) and/or salpingo-oophorectomy (RRSO). While there are established guidelines for early detection of breast cancer in high-risk women who have not undergone RRM,...

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Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

Karoline B Kuchenbaecker, Susan L Neuhausen, Mark Robson, Daniel Barrowdale, more

Breast Cancer Research > 2014 > 16 > 6 > 1-27

Introduction More than 70 common alleles are known to be involved in breast cancer (BC) susceptibility, and several exhibit significant heterogeneity in their associations with different BC subtypes. Although there are differences in the association patterns between BRCA1 and BRCA2 mutation carriers and the general population for several loci, no study has comprehensively evaluated the associations...

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Refined histopathological predictors of BRCA1 and BRCA2mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia

Amanda B Spurdle, Fergus J Couch, Michael T Parsons, Lesley McGuffog, more

Breast Cancer Research > 2014 > 16 > 6 > 1-16

Introduction The distribution of histopathological features of invasive breast tumors in BRCA1 or BRCA2 germline mutation carriers differs from that of individuals with no known mutation. Histopathological features thus have utility for mutation prediction, including statistical modeling to assess pathogenicity of BRCA1 or BRCA2 variants of uncertain clinical significance. We analyzed large pathology...

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The use of telephone in genetic counseling versus in-person counseling: a randomized study on counselees’ outcome

Ulla Platten, Johanna Rantala, Annika Lindblom, Yvonne Brandberg, more

Familial Cancer > 2012 > 11 > 3 > 371-379

Increased demand for genetic counseling services necessitates exploring alternatives to in-person counseling. Telephone counseling is a less time-consuming and more cost-effective alternative. So far there is insufficient evidence to support a pre-counseling telephone model. This randomized questionnaire study aims to evaluate the oncogenetic counseling process and to compare the impact of the initial...

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The KL-VS sequence variant of Klotho and cancer risk in BRCA1 and BRCA2 mutation carriers

Yael Laitman, Karoline B. Kuchenbaecker, Johanna Rantala, Frans Hogervorst, more

Breast Cancer Research and Treatment > 2012 > 132 > 3 > 1119-1126

Klotho (KL) is a putative tumor suppressor gene in breast and pancreatic cancers located at chromosome 13q12. A functional sequence variant of Klotho (KL-VS) was previously reported to modify breast cancer risk in Jewish BRCA1 mutation carriers. The effect of this variant on breast and ovarian cancer risks in non-Jewish BRCA1/BRCA2 mutation carriers has not been reported. The KL-VS variant was genotyped...

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Exploring the link between MORF4L1 and risk of breast cancer

Griselda Martrat, Christopher A Maxwell, Emiko Tominaga, Montserrat Porta-de-la-Riva, more

Breast Cancer Research > 2011 > 13 > 2 > 1-14

Introduction Proteins encoded by Fanconi anemia (FA) and/or breast cancer (BrCa) susceptibility genes cooperate in a common DNA damage repair signaling pathway. To gain deeper insight into this pathway and its influence on cancer risk, we searched for novel components through protein physical interaction screens. Methods Protein physical interactions were screened using the yeast two-hybrid system...

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Detection and delineation of an unusual 17p11.2 deletion by array-CGH and refinement of the Smith–Magenis syndrome minimum deletion to ~650 kb

Jacqueline Schoumans, Johan Staaf, Göran Jönsson, Johanna Rantala, more

European Journal of Medical Genetics > 2005 > 48 > 3 > 290-300

Smith–Magenis syndrome (SMS) is a multiple congenital anomaly/mental retardation syndrome and it is characterized by an interstitial deletion of chromosome 17p11.2. SMS patients have a distinct phenotype which is believed to be caused by haploinsufficiency of one or more genes in the associated deleted region. Five non-deletion patients with classical phenotypic features of SMS have been reported...

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Search results for: Johanna Rantala

Transcriptome‐wide association study of breast cancer risk by estrogen‐receptor status

Description of two Serratia marcescens associated mastitis outbreaks in Finnish dairy farms and a review of literature

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3

Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

An international survey of surveillance schemes for unaffected BRCA1 and BRCA2 mutation carriers

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

Refined histopathological predictors of BRCA1 and BRCA2mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia

The use of telephone in genetic counseling versus in-person counseling: a randomized study on counselees’ outcome

The KL-VS sequence variant of Klotho and cancer risk in BRCA1 and BRCA2 mutation carriers

Exploring the link between MORF4L1 and risk of breast cancer

Detection and delineation of an unusual 17p11.2 deletion by array-CGH and refinement of the Smith–Magenis syndrome minimum deletion to ~650 kb

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