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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
Student t-test was applied to test the significance. A high frequency of chromosomal breakage was observed in all the patients compared to healthy controls. We found significantly shorter telomere length in all the three complementation groups compare to age matched health …
Student t-test was applied to test the significance. A high frequency of chromosomal breakage was observed in all the patients compar …
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 …
Evidence for subcomplexes in the Fanconi anemia pathway.
Medhurst AL, Laghmani el H, Steltenpool J, Ferrer M, Fontaine C, de Groot J, Rooimans MA, Scheper RJ, Meetei AR, Wang W, Joenje H, de Winter JP. Medhurst AL, et al. Blood. 2006 Sep 15;108(6):2072-80. doi: 10.1182/blood-2005-11-008151. Epub 2006 May 23. Blood. 2006. PMID: 16720839 Free PMC article.
Cells derived from patients with FA display a marked sensitivity to DNA cross-linking agents, such as mitomycin C (MMC). This observation has led to the hypothesis that the proteins defective in FA are involved in the sensing or repair of interstrand cross-link lesions of …
Cells derived from patients with FA display a marked sensitivity to DNA cross-linking agents, such as mitomycin C (MMC). This observation …
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 represent onl …