The DOI matches its Crossref record; 4 of the 4 references it cites were found in a registry or an index.
Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2
Open accessAbstract
Patients with biallelic mutations in BRCA2 are in Fanconi anaemia group D1. We analysed the severity of the mutations in 27 cases, classified according to their association with breast cancer in heterozygotes, and their predicted functional effect. Twenty mutations were frameshifts or truncations, three involved splice sites, five were missense variants of unknown severity and two were benign polymorphisms. Five patients had VACTERL-H association. Leukaemia was reported in 13 patients, and solid tumours in 15; 6 patients had two or more malignancies. The cumulative probability of any malignancy was 97% by age 5.2 years. IVS7+1G→A and IVS7+2T→G were associated with AML, and 886delGT and 6174delT with brain tumours. However, patients with other alleles remained at very high risk of these events. Missense mutations formed a distinct cluster in a highly conserved region of the BRCA2 protein. The small group of patients with biallelic mutations in BRCA2 is distinctive in the severity of the phenotype, and early onset and high rates of leukaemia and specific solid tumours, and may comprise an extreme variant of Fanconi anaemia. Several of the alleles were not associated with cancer in presumed carriers, and thus counselling presents more uncertainties than usual.
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Cites
Interaction of the Fanconi Anemia Proteins and BRCA1 in a Common Pathway
Garcia-Higuera, I., Taniguchi, T., Ganesan, S., Meyn, M. S., Timmers, C., Hejna, J., Grompe, M., & D'Andrea, A. D. (2001) · Molecular Cell · doi:10.1016/s1097-2765(01)00173-3 · Cited by 1,198
Biallelic Inactivation of BRCA2 in Fanconi Anemia
Howlett, N. G., Taniguchi, T., Olson, S., Cox, B., Waisfisz, Q., de Die-Smulders, C., Persky, N., Grompe, M., Joenje, H., Pals, G., et al. (2002) · Science · doi:10.1126/science.1073834 · Cited by 1,149
The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J
Levitus, M., Waisfisz, Q., Godthelp, B. C., Vries, Y. D., Hussain, S., Wiegant, W. W., Elghalbzouri-Maghrani, E., Steltenpool, J., Rooimans, M. A., Pals, G., et al. (2005) · Nature Genetics · doi:10.1038/ng1625 · Cited by 432
The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia
Levran, O., Attwooll, C., Henry, R. T., Milton, K. L., Neveling, K., Rio, P., Batish, S. D., Kalb, R., Velleuer, E., Barral, S., et al. (2005) · Nature Genetics · doi:10.1038/ng1624 · Cited by 370
Cited by
Fanconi anemia is associated with a defect in the BRCA2 partner PALB2
Xia, B., Dorsman, J. C., Ameziane, N., de Vries, Y., Rooimans, M. A., Sheng, Q., Pals, G., Errami, A., Gluckman, E., Llera, J., et al. (2007) · Nature Genetics · doi:10.1038/ng1942 · Cited by 465
Easton, D. F., Deffenbaugh, A. M., Pruss, D., Frye, C., Wenstrup, R. J., Allen-Brady, K., Tavtigian, S. V., Monteiro, A. N. A., Iversen, E. S., Couch, F. J., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/521032 · Cited by 455
Fanconi anaemia and cancer: an intricate relationship
Nalepa, G., & Clapp, D. W. (2018) · Nature Reviews Cancer · doi:10.1038/nrc.2017.116 · Cited by 389
Wang, A. T., Kim, T., Wagner, J. E., Conti, B. A., Lach, F. P., Huang, A. L., Molina, H., Sanborn, E. M., Zierhut, H., Cornes, B. K., et al. (2015) · Molecular Cell · doi:10.1016/j.molcel.2015.07.009 · Cited by 273
Dominant versus recessive: Molecular mechanisms in metabolic disease
Zschocke, J. (2008) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-008-1016-5 · Cited by 33
Metadata
- Authors
- Alter, B. P., Rosenberg, P. S., & Brody, L. C.
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 2006-07-06
- Volume
- 44
- Issue
- 1
- Pages
- 1-9
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- OpenAlex
- W2124985397
- Cited by
- 341
- References
- 4
- FWCI
- 5.66
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Alter, B. P., Rosenberg, P. S., & Brody, L. C. (2007). Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2. Journal of Medical Genetics. https://doi.org/10.1136/jmg.2006.043257
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