Biallelic Inactivation of BRCA2 in Fanconi Anemia

By N. Howlett, T. Taniguchi, S. Olson, B. Cox, Q. Waisfisz, C. D. de Die-Smulders, N. Persky, M. Grompe, H. Joenje, G. Pals and 3 more. Science, 2002

1,245 citations recorded by the source corpus.

Subfields: Genetics, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/a1ba2d7a62767cf8e36225bb17ecf1f17a2f7cbd

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Citations in the corpus

Mechanism of homologous recombination: mediators and helicases take on regulatory functions (2006, background): “Does BRCA2 have a recombination-mediator role in DMC1-mediated HR? Aside from its well documented role in the suppression of breast and ovarian cancers, the inactivation of BRCA2 can also cause Fanconi anaemi”
BRCA1 and BRCA2: 1994 and beyond (2004, background): “It was still surprising, however, when a rare form of Fanconi anaemia was shown to be caused by biallelic mutations in BRCA2 (Ref”
The deubiquitinating enzyme USP1 regulates the Fanconi anemia pathway. (2005, background): “Furthermore, BRCA1 and the RAD51 recombinase and colocalizesUSP1 physically associates with FANCD2, and the prowith FANCD1/BRCA2 (Taniguchi et al., 2002a; Wang etteins colocalize in chromatin after DNA damage.”
Homologous recombination and human health: the roles of BRCA1, BRCA2 and associated proteins (2015, background): “Patients with biallelic BRCA2 mutations are classified as having a Fanconi anemia subtype (FA-D1), which is associated with brain, kidney, and hematological tumor types very early in life as well as with developmental issues (Howlett et al. 2002; Meyer et al. 2014).”
Spectrum of sequence variations in the FANCA gene: An International Fanconi Anemia Registry (IFAR) study (2003, background): “, 2004], and eight associated genes have been identified [Strathdee et al., 1992; Fanconi Anemia/Breast Cancer Consortium, 1996; Lo Ten Foe et al., 1996; de Winter et al., 1998, 2000a, b; Timmers et al., 2001; Howlett et al., 2002; Meetei et al., 2003].”
The role of double-strand break repair — insights from human genetics (2006, neutral): “cgi?id=605724">Fanconi anaemia complementation group D1 (FANCD1) (Ref”
Cell-cycle checkpoints and cancer (2004, background): “A direct link between BRCA2 and the cancer-prone Fanconi's anaemia syndrome arose when patients with the Fanconi's D1 complementation group turned out to harbour biallelic hypomorphic mutations in the BRCA2 gen”
Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene (2010, background): “These features are typical hallmarks of FA cells with defects in BRCA2 ( FANCD1”