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Severe telomere shortening in Fanconi anemia complementation group L.
Shah A, George M, Dhangar S, Rajendran A, Mohan S, Vundinti BR. Shah A, et al. Mol Biol Rep. 2021 Jan;48(1):585-593. doi: 10.1007/s11033-020-06101-2. Epub 2021 Jan 4. Mol Biol Rep. 2021. PMID: 33394227
Though BM transplantation is essential for the management of the FA subjects, the telomere length can be considered as biological marker to understand the prognosis of the disease as FA subjects primarily treated with androgens....
Though BM transplantation is essential for the management of the FA subjects, the telomere length can be considered as biological marker to …
Assessing the spectrum of germline variation in Fanconi anemia genes among patients with head and neck carcinoma before age 50.
Chandrasekharappa SC, Chinn SB, Donovan FX, Chowdhury NI, Kamat A, Adeyemo AA, Thomas JW, Vemulapalli M, Hussey CS, Reid HH, Mullikin JC, Wei Q, Sturgis EM. Chandrasekharappa SC, et al. Cancer. 2017 Oct 15;123(20):3943-3954. doi: 10.1002/cncr.30802. Epub 2017 Jul 5. Cancer. 2017. PMID: 28678401 Free PMC article.
The variant spectrum was comprised of 183 nonsynonymous point mutations, 9 indels, 1 large deletion, and 1 synonymous variant that was predicted to effect splicing. One hundred eight patients (26%) had at least 1 rare variant that was predicted to be damaging, and 5 …
The variant spectrum was comprised of 183 nonsynonymous point mutations, 9 indels, 1 large deletion, and 1 synonymous variant that was pr …
Novel homozygous FANCL mutation and somatic heterozygous SETBP1 mutation in a Chinese girl with Fanconi Anemia.
Wu W, Liu Y, Zhou Q, Wang Q, Luo F, Xu Z, Geng Q, Li P, Zhang HZ, Xie J. Wu W, et al. Eur J Med Genet. 2017 Jul;60(7):369-373. doi: 10.1016/j.ejmg.2017.04.008. Epub 2017 Apr 15. Eur J Med Genet. 2017. PMID: 28419882
Here we describe a Chinese girl with FA-L caused by a novel homozygous mutation c.822_823insCTTTCAGG (p.Asp275LeufsX13) in the FANCL gene. The patient's clinical course was typical for FA with progression to bone marrow failure, and death from acute myelomonocytic leukemia …
Here we describe a Chinese girl with FA-L caused by a novel homozygous mutation c.822_823insCTTTCAGG (p.Asp275LeufsX13) in the FANCL gene. T …
Distinct Metabolic Signature of Human Bladder Cancer Cells Carrying an Impaired Fanconi Anemia Tumor-Suppressor Signaling Pathway.
Panneerselvam J, Xie G, Che R, Su M, Zhang J, Jia W, Fei P. Panneerselvam J, et al. J Proteome Res. 2016 Apr 1;15(4):1333-41. doi: 10.1021/acs.jproteome.6b00076. Epub 2016 Mar 16. J Proteome Res. 2016. PMID: 26956768 Free PMC article.
Metabolic profiling has great potential to help the diagnosis and prognosis of cancer patients. Fanconi Anemia (FA) tumor-suppressor signaling has been instrumental in understanding human tumorigenesis. ...Furthermore, this study provides novel insights into how to transla …
Metabolic profiling has great potential to help the diagnosis and prognosis of cancer patients. Fanconi Anemia (FA) tumor-suppressor …
Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients.
Lhota F, Zemankova P, Kleiblova P, Soukupova J, Vocka M, Stranecky V, Janatova M, Hartmannova H, Hodanova K, Kmoch S, Kleibl Z. Lhota F, et al. Clin Genet. 2016 Oct;90(4):324-33. doi: 10.1111/cge.12748. Epub 2016 Mar 4. Clin Genet. 2016. PMID: 26822949
Mutations in the major BC-susceptibility genes are important prognostic and predictive markers; however, their carriers represent only 25% of high-risk BC patients. ...
Mutations in the major BC-susceptibility genes are important prognostic and predictive markers; however, their carriers repres …