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SNV/indel hypermutator phenotype in biallelic RAD51C variant: Fanconi anemia

  • Published:2023-04-09 Issue:6 Volume:142 Page:721-733
  • ISSN:0340-6717
  • Container-title:Human Genetics
  • language:en
  • Short-container-title:Hum Genet

Author:

Zemet Roni,Du Haowei,Gambin Tomasz,Lupski James R.,Liu Pengfei,Stankiewicz PawełORCID

Funder

National Institute of Child Health and Human Development

National Institute of General Medical Sciences

National Institute of Neurological Disorders and Stroke

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Reference80 articles.

1. Acuna-Hidalgo R, Bo T, Kwint MP, van de Vorst M, Pinelli M, Veltman JA, Hoischen A, Vissers LE, Gilissen C (2015) Post-zygotic point mutations are an underrecognized source of de novo genomic variation. Am J Hum Genet 97:67–74. https://doi.org/10.1016/j.ajhg.2015.05.008

2. Acuna-Hidalgo R, Veltman JA, Hoischen A (2016) New insights into the generation and role of de novo mutations in health and disease. Genome Biol 17:241. https://doi.org/10.1186/s13059-016-1110-1

3. Alexandrov LB, Nik-Zainal S, Wedge DC, Campbell PJ, Stratton MR (2013) Deciphering signatures of mutational processes operative in human cancer. Cell Rep 3:246–259. https://doi.org/10.1016/j.celrep.2012.12.008

4. Alexandrov LB, Kim J, Haradhvala NJ, Huang MN, Tian Ng AW, Wu Y, Boot A, Covington KR, Gordenin DA, Bergstrom EN, Islam SMA, Lopez-Bigas N, Klimczak LJ, McPherson JR, Morganella S, Sabarinathan R, Wheeler DA, Mustonen V, Group PMSW, Getz G, Rozen SG, Stratton MR, Consortium P (2020) The repertoire of mutational signatures in human cancer. Nature 578:94–101. https://doi.org/10.1038/s41586-020-1943-3

5. Ameziane N, May P, Haitjema A, van de Vrugt HJ, van Rossum-Fikkert SE, Ristic D, Williams GJ, Balk J, Rockx D, Li H, Rooimans MA, Oostra AB, Velleuer E, Dietrich R, Bleijerveld OB, Maarten Altelaar AF, Meijers-Heijboer H, Joenje H, Glusman G, Roach J, Hood L, Galas D, Wyman C, Balling R, den Dunnen J, de Winter JP, Kanaar R, Gelinas R, Dorsman JC (2015) A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51. Nat Commun 6:8829. https://doi.org/10.1038/ncomms9829
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