Cited by 1,149DNA Repair MechanismsBRCA gene mutations in cancerBlood disorders and treatments

Biallelic Inactivation of BRCA2 in Fanconi Anemia

Howlett, Niall G., Taniguchi, Toshiyasu, Olson, Susan, Cox, Barbara, Waisfisz, Quinten, de Die-Smulders, Christine, Persky, Nicole, Grompe, Markus +5 more·2002·Science

Abstract

Fanconi anemia (FA) is a rare autosomal recessive cancer susceptibility disorder characterized by cellular hypersensitivity to mitomycin C (MMC). Six FA genes have been cloned, but the gene or genes corresponding to FA subtypes B and D1 remain unidentified. Here we show that cell lines derived from FA-B and FA-D1 patients have biallelic mutations in BRCA2 and express truncated BRCA2 proteins. Functional complementation of FA-D1 fibroblasts with wild-type BRCA2 complementary DNA restores MMC resistance. Our results link the six cloned FA genes with BRCA1 and BRCA2 in a common pathway. Germ-line mutation of genes in this pathway may result in cancer risks similar to those observed in families with BRCA1 or BRCA2 mutations.

Integrity signals

Registry

Crossref · 10.1126/science.1073834

Cites

29 of 29 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Cites

Flagged first, then by citations

Cited by

Sorted by citations

Authors
Howlett, N. G., Taniguchi, T., Olson, S., Cox, B., Waisfisz, Q., de Die-Smulders, C., Persky, N., Grompe, M., Joenje, H., Pals, G., Ikeda, H., Fox, E. A., & D'Andrea, A. D.
Affiliations
  • Harvard University (US)
  • Oregon Health & Science University (US)
  • Amsterdam UMC Location Vrije Universiteit Amsterdam (NL)
  • Department of Clinical Genetics, Academic Hospital Maastricht, Maastricht, Netherlands.
  • Sapporo Medical University (JP)
  • Department of Pediatric Oncology, Dana-Farber Cancer Institute and Department of Pediatrics, Children's Hospital, Harvard Medical School, 44 Binney Street, Boston, MA 02115, USA.
Venue
Science
Published
2002-07-26
Volume
297
Issue
5581
Pages
606-609
ISSN
  • 0036-8075 (ISSN-L)
  • 1095-9203
OpenAlex
W2101161126
Cited by
1,149
References
29
Citations by year
2026: 6 · 2025: 12 · 2024: 19 · 2023: 13 · 2022: 17 · 2021: 31 · 2020: 28 · 2019: 34 · 2018: 31 · 2017: 37 · 2016: 46 · 2015: 46 · 2014: 46 · 2013: 43 · 2012: 51
FWCI
32.76
Type
journal article
Language
en
Open access
closed
Locations
  • Science (publishedVersion)
  • PubMed (publishedVersion)
  • Amsterdam UMC (VU Amsterdam) - Institutional Repository (publishedVersion)
  • Pure Amsterdam UMC (submittedVersion)
  • Data Archiving and Networked Services (DANS) (submittedVersion)
Funders
  • National Heart, Lung, and Blood Institute (P01-HL54785, R01HL52725, R01HL052725)
  • National Institute of Diabetes and Digestive and Kidney Diseases (R01DK43889, R01DK043889)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Blood disorders and treatments
Keywords
Fanconi anemia, BRCA2, biallelic inactivation, BRCA1, mitomycin C hypersensitivity, functional complementation, cancer susceptibility, germline mutations, DNA repair pathways
MeSH terms
Alleles, Amino Acid Sequence, Cell Line, DNA Damage, Fanconi Anemia, Female, Fibroblasts, Genetic Complementation Test, Homozygote, Humans, Male, Molecular Sequence Data, Mutation, Pedigree, Phenotype, RNA, Messenger, Transfection, Frameshift Mutation, Mitomycin, Germ-Line Mutation, Genes, BRCA1, Protein Isoforms, Reverse Transcriptase Polymerase Chain Reaction, Gene Silencing, Genes, BRCA2, BRCA2 Protein

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review