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Overview

Carl Blomqvist is affiliated with the University of Helsinki in Finland and specializes in research centered on cancer genetics, oncology, and molecular biology. Their body of work includes 115 publications within Medicine and 102 within Biochemistry, Genetics, and Molecular Biology, with significant contributions in the subfields of Genetics, Oncology, Cancer Research, Pulmonary and Respiratory Medicine, and Molecular Biology.

The primary topics explored by Blomqvist involve genetic mutations and associations relevant to cancer, particularly focusing on the BRCA gene mutations in cancer, which they have addressed in 46 publications. Other notable topics include breast cancer treatment studies, sarcoma diagnosis and treatment, genetic associations and epidemiology, nutrition's role in genetics and disease, cancer survivorship and care, and genetic factors linked to colorectal cancer.

Blomqvist's recent papers include:

  • Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women, 2021, New England Journal of Medicine
  • Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses, 2020, Nature Genetics
  • Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes, 2020, Nature Genetics
  • Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes, 2022, JAMA Oncology
  • Physical activity, sedentary time and breast cancer risk: a Mendelian randomisation study, 2022, British Journal of Sports Medicine

Frequent co-authors collaborating with Blomqvist are:

  • Manjeet K. Bolla
  • Stig E. Bojesen
  • Kamila Czene
  • Heli Nevanlinna
  • Peter A. Fasching

Blomqvist regularly publishes in several scientific venues, predominantly:

  • UNC Libraries
  • Acta Oncologica
  • Breast Cancer Research and Treatment
  • Research Square
  • Breast Cancer Research

The research focus highlights include the investigation of hereditary breast cancer risk factors, genome-wide association studies identifying novel susceptibility loci, and the pathology of tumors linked to germline variants. The breadth of Blomqvist's work encompasses epidemiological approaches, molecular genetics, and clinical oncology with an emphasis on understanding cancer susceptibility and treatment outcomes across different cancer types.

Best Publications

  • Effects of chemotherapy and hormonal therapy for early breast cancer on recurrence and 15-year survival: an overview of the randomised trials

    O. Abe;R. Abe;K. Enomoto;K. Kikuchi

  • Subtyping of breast cancer by immunohistochemistry to investigate a relationship between subtype and short and long term survival: a collaborative analysis of data for 10,159 cases from 12 studies

    Fiona M. Blows;Kristy E. Driver;Marjanka K. Schmidt;Annegien Broeks

  • 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

  • 53BP1 loss rescues BRCA1 deficiency and is associated with triple-negative and BRCA-mutated breast cancers

    Peter Bouwman;Amal Mahmoud Aly;Jose M. Escandell;Mark Pieterse

  • 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

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

    Leila Dorling;Sara Carvalho;Jamie Allen

  • Reduced expression of proapoptotic gene BAX is associated with poor response rates to combination chemotherapy and shorter survival in women with metastatic breast adenocarcinoma.

    Stanislaw Krajewski;Carl Blomqvist;Kaarle Franssila;Maryla Krajewska

  • A common coding variant in CASP8 is associated with breast cancer risk

    Angela Cox;Alison M. Dunning;Montserrat Garcia-Closas;Sabapathy Balasubramanian

  • Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

    John R.B. Perry;Felix Day;Cathy E. Elks;Patrick Sulem

  • 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

  • MicroRNA related polymorphisms and breast cancer risk

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

  • CHEK2*1100delC and Susceptibility to Breast Cancer: A Collaborative Analysis Involving 10,860 Breast Cancer Cases and 9,065 Controls from 10 Studies

    D Easton;L McGuffog;D Thompson;A Dunning

  • 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

  • Heterogeneity of Breast Cancer Associations with Five Susceptibility Loci by Clinical and Pathological Characteristics

    Montserrat Garcia-Closas;Per Hall;Heli Nevanlinna;Karen Pooley

Frequent Co-Authors

Heli Nevanlinna
Heli Nevanlinna University of Helsinki
Graham G. Giles
Graham G. Giles University of Melbourne
Hiltrud Brauch
Hiltrud Brauch German Cancer Research Center
Kristiina Aittomäki
Kristiina Aittomäki University of Helsinki
Roger L. Milne
Roger L. Milne Cancer Council Victoria
Jenny Chang-Claude
Jenny Chang-Claude German Cancer Research Center
Melissa C. Southey
Melissa C. Southey Monash University
Stig E. Bojesen
Stig E. Bojesen University of Copenhagen
Douglas F. Easton
Douglas F. Easton University of Cambridge
Barbara Burwinkel
Barbara Burwinkel Heidelberg University

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