Cited by 59BRCA gene mutations in cancerDNA Repair MechanismsGenetic factors in colorectal cancer

Breast Cancer–Associated Abraxas Mutation Disrupts Nuclear Localization and DNA Damage Response Functions

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Solyom, Szilvia, Aressy, Bernadette, Pylkäs, Katri, Patterson-Fortin, Jeffrey, Hartikainen, Jaana M., Kallioniemi, Anne, Kauppila, Saila, Nikkilä, Jenni +4 more·2012·Science Translational Medicine

Abstract

A germline mutation in the Abraxas gene impairs BRCA1 DNA damage response function and is associated with familial breast cancer.

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Authors
Solyom, S., Aressy, B., Pylkäs, K., Patterson-Fortin, J., Hartikainen, J. M., Kallioniemi, A., Kauppila, S., Nikkilä, J., Kosma, V.-M., Mannermaa, A., Greenberg, R. A., & Winqvist, R.
Affiliations
  • Laboratory of Cancer Genetics, Department of Clinical Genetics, Institute of Clinical Medicine and Biocenter Oulu, University of Oulu, Oulu University Hospital, Aapistie 5A, FI-90220 Oulu, Finland.
  • Abramson Cancer Center (US)
  • Oulu University Hospital (FI)
  • University of Eastern Finland (FI)
  • Tampere University Hospital (FI)
Corresponding author
  • Aressy, Bernadette
  • Pylkäs, Katri
  • Patterson-Fortin, Jeffrey
  • Greenberg, Roger A.
  • Winqvist, Robert
Venue
Science Translational Medicine
Published
2012-02-22
Volume
4
Issue
122
Pages
122ra23-122ra23
ISSN
  • 1946-6234 (ISSN-L)
  • 1946-6242
OpenAlex
W2115343458
Cited by
59
References
37
Citations by year
2026: 1 · 2025: 1 · 2024: 2 · 2023: 3 · 2022: 3 · 2021: 3 · 2020: 2 · 2019: 4 · 2018: 1 · 2017: 3 · 2016: 8 · 2015: 5 · 2014: 10 · 2013: 10 · 2012: 3
FWCI
5.40
Type
journal article
Language
en
Open access
Locations
  • Science Translational Medicine (publishedVersion)
  • PubMed (publishedVersion)
  • Europe PMC (PubMed Central) (acceptedVersion)
  • PubMed Central (acceptedVersion)
Funders
  • Canadian Institutes of Health Research
  • National Cancer Institute (R01CA138835)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
  • Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
Keywords
Abraxas, breast cancer susceptibility, BRCA1, BRCT domain, DNA damage response, nuclear localization, germline mutations, hereditary breast cancer, tumor suppressor network, single nucleotide polymorphisms
MeSH terms
Adult, Amino Acid Sequence, Base Sequence, Breast Neoplasms, Carrier Proteins, Cell Nucleus, DNA Damage, Female, Finland, Genetic Testing, Heterozygote, Humans, Male, Molecular Sequence Data, Mutation, Pedigree, Amino Acid Substitution, Protein Transport, Cell Line, Tumor, DNA Breaks, Double-Stranded

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