Speit G: Radiosensitivity of lymphoblastoid cell lines with a heterozygous BRCA1 mutation is not detected by the comet assay and pulsed field gel electrophoresis. Mutagenesis 2005 - Trenz, Schutz - 2005Trenz K, Schutz P, Speit G: Radiosensitivity of lymphoblastoid cell lines with a heterozygous ...
Overall, these findings support the concept ofBRCA1haploinsufficiency wherein a specific mutation results in dosage-dependent alteration ofBRCA1at the transcriptional level. This study is the first to show a decrease inBRCA1mRNA expression in freshly isolated blood leukocytes from healthy, unaffected...
Oncologists say only a small portion of these cases are linked to inherited mutations of the BRCA1 and BRCA2 genes. “We definitely see family clusters and even when we look at 17 or 23 genes we’re still not seeing an underlying gene mutation,” says Jennifer Litton, an associate profess...
Correction: Corrigendum: The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nat Genet 12, 110 (1996). https://doi.org/10.1038/ng0196-110c Download citation Issue Date01 January 1996 DOIhttps://doi.org/10.1038/ng0196-110cSections...
What is the germline BRCA mutation?Germline Mutation:Germline mutations refer to the alterations in the germ cells. Germ cells become the sex cells of the organism, ova in females and sperm in males. These alterations would persist and pass on from one generation to the next....
The strongest genetic risk factor for MBC is represented by inherited BRC... L Ottini,P Rizzolo,I Zanna,... - 《Breast Cancer Res Treat》 被引量: 126发表: 2009年 Prediction of BRCA1/2 mutation status in patients with ovarian cancer from a hospital-based cohort or uterine/endometrioid ...
Is hereditary retinoblastoma a somatic or germ cell mutation? Is muscular dystrophy autosomal dominant? Is Lynch syndrome autosomal dominant? Are imprinted genes autosomal? Is NF1 autosomal dominant? Is a sideways toe autosomal recessive? How is an autosomal recessive disorder inherited? Is Turner's ...
Potentiation of temozolomide cytotoxicity by inhibition of DNA polymerase beta is accentuated by BRCA2 mutation. , Campisi Hegan D, Sweasy JB, Glazer PM: Potentiation of temozolomide cytotoxicity by inhibition of DNA polymerase beta is accentuated by BRCA2 mutation... GC Stachelek,S Dalal,KA Doni...
Is Breast-conserving Therapy Really a Good Option for BRCA1/2 Mutation Carriers? Author links open overlay panelM.P.NilssonN.LomanShow more Share Cite https://doi.org/10.1016/j.clon.2015.10.002Get rights and contentPrevious article in issue...
To limit false-negative mutation calls in low tumor purity samples, we restricted comparison to 46 patients with tissue–ctDNA pairs where both samples had a sufficient tumor fraction to detect protein-altering somatic mutations (Supplementary Data6and Supplementary Fig.7b). For each patient, we ev...