Characterization of a novel germline BRCA1 splice variant, c.5332+4delA
Author:
Funder
Memorial Sloan-Kettering Cancer Center
Publisher
Springer Science and Business Media LLC
Subject
Cancer Research,Oncology
Link
http://link.springer.com/article/10.1007/s10549-017-4595-8/fulltext.html
Reference34 articles.
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2. Scully R, Ganesan S, Vlasakova K, Chen J, Socolovsky M, Livingston DM (1999) Genetic analysis of BRCA1 function in a defined tumor cell line. Mol Cell 4(6):1093–1099
3. Koonin EV, Altschul SF, Bork P (1996) BRCA1 protein products functional motifs. Nat Genet 13(3):266–268
4. Williams RS, Green R, Glover JN (2001) Crystal structure of the BRCT repeat region from the breast cancer-associated protein BRCA1. Nat Struct Biol 8(10):838–842
5. Rodriguez JA, Au WW, Henderson BR (2004) Cytoplasmic mislocalization of BRCA1 caused by cancer-associated mutations in the BRCT domain. Exp Cell Res 293(1):14–21
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1. Value of the loss of heterozygosity to BRCA1 variant classification;npj Breast Cancer;2022-01-17
2. Somatic data usage for classification of germ line variants;Clinical DNA Variant Interpretation;2021
3. Novel bioinformatics quality control metric for next-generation sequencing experiments in the clinical context;Nucleic Acids Research;2019-09-12
4. BRCA1—No Matter How You Splice It;Cancer Research;2019-04-16
5. Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes;Human Mutation;2018-10-11
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