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Kristiina Aittomäki

Kristiina Aittomäki

D-Index & Metrics

Medicine

D-Index
108
Citations
43847
World Ranking
5994
National Ranking
65

Overview

Kristiina Aittomäki is affiliated with the University of Helsinki in Finland. Their research primarily spans the fields of Biochemistry, Genetics and Molecular Biology, with a significant focus on Genetics, Cancer Research, Oncology, Molecular Biology, and Pathology and Forensic Medicine.

The scientist's work covers a variety of topics related to cancer and genetic factors, including:

  • BRCA gene mutations in cancer
  • Cancer Genomics and Diagnostics
  • Genetic factors in colorectal cancer
  • Ovarian cancer diagnosis and treatment
  • Genomic variations and chromosomal abnormalities
  • DNA Repair Mechanisms
  • RNA modifications and cancer

This expertise is reflected in several recent publications, showcasing research in cancer genetics and diagnostics:

  • Detection of KRAS mutations in liquid biopsies from metastatic colorectal cancer patients using droplet digital PCR, Idylla, and next generation sequencing, 2020, PLoS ONE
  • Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine, 2022, EBioMedicine
  • Constitutional mosaicism for a BRCA2 mutation as a cause of early-onset breast cancer, 2020, Familial Cancer
  • Recessive MYH3 variants cause "Contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndrome, 2020, American Journal of Medical Genetics Part A
  • High miR-30 Expression Associates with Improved Breast Cancer Patient Survival and Treatment Outcome, 2021, Cancers

Frequent co-authors collaborating with Aittomäki include Heli Nevanlinna, Carl Blomqvist, Taru Muranen, Maija Suvanto, and Joe Dennis. These collaborations span their main research areas, contributing to publications in various peer-reviewed journals.

Their research output has been published notably in the following journals:

  • Cancers
  • PLoS ONE
  • EBioMedicine
  • Acta Oncologica
  • Familial Cancer

The body of work includes 27 publications categorized under Biochemistry, Genetics and Molecular Biology, and 17 under Medicine, emphasizing a multidisciplinary approach to the study of cancer genetics and molecular pathology. Aittomäki's research integrates genetic mechanisms such as DNA repair, genomic variations, and their impact on cancer development and patient outcomes.

Best Publications

  • Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer.

    Tomlinson Ip;Alam Na;Rowan Aj;Barclay E

  • Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores

    Bjarni J. Vilhjálmsson;Jian Yang;Hilary K. Finucane;Alexander Gusev

  • Association analysis identifies 65 new breast cancer risk loci

    Kyriaki Michailidou;Kyriaki Michailidou;Sara Lindström;Sara Lindström;Joe Dennis;Jonathan Beesley

  • Large-scale genotyping identifies 41 new loci associated with breast cancer risk

    Kyriaki Michailidou;Per Hall;Anna Gonzalez-Neira;Maya Ghoussaini

  • MUTATION IN THE FOLLICLE-STIMULATING HORMONE RECEPTOR GENE CAUSES HEREDITARY HYPERGONADOTROPIC OVARIAN FAILURE

    Kristiina Aittomäki;Kristiina Aittomäki;JoséLuis Dieguez Lucena;JoséLuis Dieguez Lucena;Pirjo Pakarinen;Pertti Sistonen

  • Breast-Cancer Risk in Families with Mutations in PALB2

    A. C. Antoniou;S. Casadei;T. Heikkinen;D. Barrowdale

  • RAD51B in Familial Breast Cancer

    Liisa M. Pelttari;Sofia Khan;Mikko Vuorela;Johanna I. Kiiski

  • Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes

    Nasim Mavaddat;Kyriaki Michailidou;Kyriaki Michailidou;Joe Dennis;Michael Lush

  • Associations of Breast Cancer Risk Factors With Tumor Subtypes: A Pooled Analysis From the Breast Cancer Association Consortium Studies

    Xiaohong R. Yang;Jenny Chang-Claude;Ellen L. Goode;Fergus J. Couch

  • Why do singletons conceived after assisted reproduction technology have adverse perinatal outcome? Systematic review and meta-analysis

    A Pinborg;U B Wennerholm;L B Romundstad;A Loft

  • Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women

    Leila Dorling;Sara Carvalho;Jamie Allen

  • Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).

    Nasim Mavaddat;Daniel Barrowdale;Irene L. Andrulis;Susan M. Domchek

  • Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

    Kyriaki Michailidou;Jonathan Beesley;Sara Lindstrom;Sander Canisius

  • Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

    Stig E. Bojesen;Stig E. Bojesen;Karen A. Pooley;Sharon E. Johnatty;Jonathan Beesley

  • Prediction of Breast Cancer Risk Based on Profiling With Common Genetic Variants

    Nasim Mavaddat;Paul D.P. Pharoah;Kyriaki Michailidou;Jonathan Tyrer

  • Men Homozygous for an Inactivating Mutation of the Follicle-Stimulating Hormone (FSH) Receptor Gene Present Variable Suppression of Spermatogenesis and Fertility

    Juha S. Tapanainen;Kristiina Aittomäki;Kristiina Aittomäki;Jiang Min;Tommi Vaskivuo

  • MicroRNA related polymorphisms and breast cancer risk

    Sofia Khan;Dario Greco;Dario Greco;Kyriaki Michailidou;Roger L. Milne;Roger L. Milne

  • Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2.

    Shahana Ahmed;Gilles Thomas;Maya Ghoussaini;Catherine S. Healey

  • A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer.

    Pia Vahteristo;Jirina Bartkova;Hannaleena Eerola;Kirsi Syrjäkoski

  • Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.

    Timothy R. Rebbeck;Nandita Mitra;Fei Wan;Olga M. Sinilnikova

Frequent Co-Authors

Heli Nevanlinna
Heli Nevanlinna University of Helsinki
Carl Blomqvist
Carl Blomqvist University of Helsinki
Irene L. Andrulis
Irene L. Andrulis University of Toronto
Graham G. Giles
Graham G. Giles University of Melbourne
Hiltrud Brauch
Hiltrud Brauch German Cancer Research Center
Douglas F. Easton
Douglas F. Easton University of Cambridge
Melissa C. Southey
Melissa C. Southey Monash University
Fergus J. Couch
Fergus J. Couch Mayo Clinic
Georgia Chenevix-Trench
Georgia Chenevix-Trench QIMR Berghofer Medical Research Institute
Roger L. Milne
Roger L. Milne Cancer Council Victoria

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