With direct sanger sequencing, FemtoPath PTEN Mutation Screen Kit is able to detect somatic mutation from DNA derived from formalin-fixed paraffin-embedded (FFPET), fine needle biopsy or pleural effusion specimens.. The feature of FemtoPath mutation screen kit ...
DNA Quality Measurement and Somatic Mutation Profiling in PAXgene Tissue Samples with qBiomarker Somatic Mutation PCR Arrays (EN ...
Riken Genesis - SNP genotyping . Riken Genesis has developed a robust technology for gene mutation analysis named F-PHFA, minimizing data inaccuracy .
Here, we describe, in detail, an aggressive GBM that involved the subventricular Inhibitors,Modulators,Libraries zone by which ordinary stem cells reside in. The clinical characterization includes the patients clin ical historical past, diagnosis, brain imaging scientific studies, invasive surgical treatment, and … Continue reading →. ...
Purpose: : To identify and characterize the gene mutation responsible for photoreceptor degeneration in the rd3 mouse. Methods: : We screened genes in the known rd3 (RBF/DnJ) mapped region by direct sequencing. We additionally screened other rd3 lines (RBJ/Dn, STOCK Rb(11.13)4Bnr/J and STOCK In(5)30Rk) and normal mouse strains to verify the alteration. We carried out a mutation screen of the human RD3 gene in patients with retinopathies and examined 431 patients of Caucasian ethnicity and 103 of Asian-Indian ancestry. Amino acid changes that were identified in patients but not in controls are being examined by immunoblot analysis and immunocytochemisty to determine their effect(s) on protein stability or localization. Results: : The rd3 mutation is a homozygous C to T transition, leading to a stop codon, which is predicted to result in a premature truncation of the rd3 protein. The mutation was present in all rd3 lines tested (RBF/DnJ, RBJ/Dn, 4bnr and IN-30) but not in the control lines ...
|p>p53 is a tumor suppressor protein encoded by the TP53 gene that responds to DNA damage by regulating cell-cycle arrest, apoptosis and senescence. These p53 Hotspot Mutation Cell Panels are composed of select cell lines derived from tumors of various tissue origins. The p53 mutational status of these lines have been sequenced and validated by ATCC.|/p>
|p>p53 is a tumor suppressor protein encoded by the TP53 gene that responds to DNA damage by regulating cell-cycle arrest, apoptosis and senescence. These p53 Hotspot Mutation Cell Panels are composed of select cell lines derived from tumors of various tissue origins. The p53 mutational status of these lines have been sequenced and validated by ATCC.|/p>
Vorkas, P.A.; Poumpouridou, N.; Agelaki, S.; Kroupis, C.; Georgoulias, V.; Lianidou, E.S., 2010: PIK3CA hotspot mutation scanning by a novel and highly sensitive high-resolution small amplicon melting analysis method
Health,...Unknown mutations may account for increased odds researchers say ...MONDAY Nov. 17 (HealthDay News) -- The risk of breast cancer for a wo...And in women younger than age 40 without the BRCA mutations but with ...Over a six-year period the researchers followed up nearly 1500 wome...,Family,History,Ups,Breast,Cancer,Risk,Even,Without,BRCA,Gene,medicine,medical news today,latest medical news,medical newsletters,current medical news,latest medicine news
In this presentation from the 18th European Congress: Perspectives in Lung Cancer, Dr. Céline Mascaux discusses treatment strategies in both the front line and relapse settings of EGFR+ tumors. Earn CME Credit for a related activity: http://elc.imedex.com/ELC/S... © 2017 Imedex, LLC.
truediamond - Patient: Colorectal (Colon) Cancer > Adenocarcinoma Patient Info: Newly diagnosed (has not begun treatment), Diagnosed: about 8 years ago, Female, Age: 54, KRAS mutation positive: Dont Know, BRAF mutation positive: Dont Know, Stage II
This paper presents a mutation analysis tool based on a reflective macro system. Mutation analysis is a powerful and computationally expensive technique th
No all any recurrent mutations are cancer hotspots, say researchers who have demonstrated that putting recurrent mutations into genomic context can distinguish between passengers and drivers of cancer
The FATE gene maps to Xq28 where one case of a translocation breakpoint has been found in an infertile man. Moreover, the FATE promoter contains a putative SF-1-binding site, and F
The technology could eventually have applications in pathology as well as field-based diagnostic testing for infectious diseases.
TY - JOUR. T1 - Targeted mutational profiling of peripheral T-cell lymphoma not otherwise specified highlights new mechanisms in a heterogeneous pathogenesis. AU - Schatz, J. H.. AU - Horwitz, S. M.. AU - Teruya-Feldstein, J.. AU - Lunning, M. A.. AU - Viale, A.. AU - Huberman, K.. AU - Socci, N. D.. AU - Lailler, N.. AU - Heguy, A.. AU - Dolgalev, I.. AU - Migliacci, J. C.. AU - Pirun, M.. AU - Palomba, M. L.. AU - Weinstock, D. M.. AU - Wendel, H. G.. PY - 2015/1/10. Y1 - 2015/1/10. UR - http://www.scopus.com/inward/record.url?scp=84920670383&partnerID=8YFLogxK. UR - http://www.scopus.com/inward/citedby.url?scp=84920670383&partnerID=8YFLogxK. U2 - 10.1038/leu.2014.261. DO - 10.1038/leu.2014.261. M3 - Letter. C2 - 25257991. AN - SCOPUS:84920670383. VL - 29. SP - 237. EP - 241. JO - Leukemia. JF - Leukemia. SN - 0887-6924. IS - 1. ER - ...
Background: AML is a clinically and genetically heterogeneous clonal disorder. Approximately 50% are characterized by recurrent clonal chromosome aberrations which have contributed to the classification of disease and are recognized as important prognostic factors. AML patients who lack these recurrent structural abnormalities have been grouped as "intermediate cytogenetic risk" and are being further subcategorized by the sequence alterations that are being identified. A more complete understanding of the genetic changes that are relevant to the pathogenesis of AML will improve the classification of risk and ultimately better selection of therapy. Our hypothesis is that mutational profiling and analysis of patient outcomes will help better define the risk subgroups of patients and predict prognosis in patients with AML.. Methods: Archived DNA from 37 patients with various AML diagnoses were obtained with IRB approval (IRB#201502763). A panel of 30 commonly mutated genes in AML were designed ...
Cancer cells are constantly dying, and their liberated DNA enters the blood stream where it is quickly broken down into minute fragments of DNA with two distinct sizes: ~ 140bp and 35bp. The cancer mutations can be located anywhere along the length of the DNA fragments, and be present at extremely low concentrations.. MutantDx uses its patented PrimaCap technology to detect tumor mutations in DNA fragments of all sizes, irrespective of their location, and at femtogram concentration. This is an unmatched capability. ...
Google Form to fill in, please and thank you! Get any many hands as you can, please. Both of your own, and all available family members. Need something to entertain the kids on a rainy day? Get them to take the measurements ...
Beales PL et al. (2001) Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci.. [^] ...
Beales PL et al. (2001) Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci.. [^] ...
TY - JOUR. T1 - Mutational analysis of EGFR and related signaling pathway genes in lung adenocarcinomas identifies a novel somatic kinase domain mutation in FGFR4. AU - Marks, Jenifer L.. AU - McLellan, Michael. AU - Zakowski, Maureen F.. AU - Lash, Alex E.. AU - Kasai, Yumi. AU - Broderick, Stephen. AU - Sarkaria, Inderpal S.. AU - Pham, Duy Khanh. AU - Singh, Bhuvanesh. AU - Miner, Tracie L.. AU - Fewell, Ginger A.. AU - Fulton, Lucinda L.. AU - Mardis, Elaine R.. AU - Wilson, Richard K.. AU - Kris, Mark G.. AU - Rusch, Valerie W.. AU - Varmus, Harold. AU - Pao, William. PY - 2007/5/9. Y1 - 2007/5/9. N2 - Background. Fifty percent of lung adenocarcinomas harbor somatic mutations in six genes that encode proteins in the EGFR signaling pathway, i.e., EGFR, HER2/ERBB2, HER4/ERBB4, PIK3CA, BRAF, and KRAS. We performed mutational profiling of a large cohort of lung adenocarcinomas to uncover other potential somatic mutations in genes of this signaling pathway that could contribute to lung ...
Mutation assays can then be grouped together into PCR arrays based off common themes to enable users to profile a focused set of mutations. The mutations on an array are selected based on a commonality, such as being from the same gene, signaling pathway, or cancer type. For example, users could profile the most common 84 mutations in breast cancer or the 44 most common mutations in APC. The Custom qBiomarker Somatic Mutation PCR Arrays allow users to select the mutations that they wish to profile. Together, the qBiomarker Somatic Mutation products facilitate sensitive detection and profiling of mutations in cancer cells or tumor samples ...
The usefulness of liquid biopsy to detect mutations from cancer patients has been well recognized today. However, because the mutation detection rates from plasma DNA were relatively lower than those of tissue re-biopsy, its clinical utility has not been confirmed yet. As previously we reported, we have developed fully automatic high-sensitive point mutation detecting system named mutation-biased PCR and quenched probe (MBP-QP) system for liquid biopsy. Recently, the importance of pre-analytical procedures for plasma DNA anazysis has been highlighted. In this study, we examined whether the automatic DNA extraction system can improve the mutation detection rate in our MBP-QP system. Sixty-one plasma samples were obtained from advanced non-small cell lung cancer patients, and plasma DNA extraction was performed from 200μl plasma by manually (200-M), and 200μl (200-A), 1000μl (1000-A) plasma by automatically. We used silica membrane spin column system for manual DNA extraction, and magnet beads ...
This study presents a comprehensive survey and comparison of oncogene mutation profiles between primary colorectal cancers and metastases from commonly resected distant sites, including the liver, lung, and brain. Consistent with oncogene profiling studies in primary colorectal cancers, BRAF, KRAS, NRAS, and PIK3CA were identified as the main mutation targets in metastases, and somatic changes in the MAPK pathway members BRAF, KRAS, and NRAS were mutually exclusive (30, 31). Overall oncogene mutation status was greater than 88% concordant between primary cancer and distant metastasis from the same patient, suggesting that these activating mutations are generally acquired prior to metastatic spread. Our data are consistent with the high level of concordance between primary colorectal cancers and distant secondary deposits previously reported for KRAS and BRAF mutations (32-35), confirming that mutation testing of primary tumor is a reasonable surrogate for treatment decisions in metastatic ...
Analysis of mutation data.(A) Clustering of whole exome sequencing mutation data based on the mutation status of the genes in P0 and P1 samples of four models.
In this study, the clinical characteristics, laboratory data and genetic features of 65 patients with CHI, the largest CHI cohort from southern China, were reported. Until now, there have been no nationwide data regarding this disorder in China, although several studies have summarized the clinical and genetic characteristics of CHI in northern and eastern China (20,21,22).. In our cohort of patients with CHI, 32.8% were noted to have disease-causing mutations: 16 (25%) patients were positive for ABCC8 mutations; five (7.8%) were positive for GLUD1 mutations; and 44 (67%) were negative for GCK, GLUD1, ABCC8 and KCNJ11 mutations in the gene analysis. No mutations were found in the KCNJ11 gene in this study. As described in previous studies, most of the mutations identified have been detected in the KATP channel. The mutation detection rates of ABCC8 and KCNJ11 genes reported by Kapoor et al (6) and by Snider et al (26) were 36.3% (109/300) and 69% (288/417), respectively. However, in a similar ...
A. There are plausible disease-causing mutations(i) within, affecting or encompassing an interpretable functional region(ii) of this gene identified in multiple (,3) unrelated cases/families with the phenotype(iii).. OR. B. There are plausible disease-causing mutations(i) within, affecting or encompassing cis-regulatory elements convincingly affecting the expression of a single gene identified in multiple (,3) unrelated cases/families with the phenotype(iii).. OR. C. As definitions A or B but in 2 or 3 unrelated cases/families with the phenotype, with the addition of convincing bioinformatic or functional evidence of causation e.g. known inborn error of metabolism with mutation in orthologous gene which is known to have the relevant deficient enzymatic activity in other species; existence of an animal model which recapitulates the human phenotype.. AND. D. Evidence indicates that disease-causing mutations follow a Mendelian pattern of causation appropriate for reporting in a diagnostic ...
SAN DIEGO, July 3, 2012 /PRNewswire/ -- Trovagene to Study Trans-Renal KRAS Mutation Detection in Pancreatic Cancer. Study will compare detection of KRAS...
Mutation detection is increasingly undertaken in a wide spectrum of research areas: in medicine it is fundamental in isolating disease genes and diagnosis, and is especially important in cancer research; in biology, commercially important genes can be identified by the mutations they contain. But mutation detection is time-consuming and expensive.
A. There are plausible disease-causing mutations(i) within, affecting or encompassing an interpretable functional region(ii) of this gene identified in multiple (,3) unrelated cases/families with the phenotype(iii).. OR. B. There are plausible disease-causing mutations(i) within, affecting or encompassing cis-regulatory elements convincingly affecting the expression of a single gene identified in multiple (,3) unrelated cases/families with the phenotype(iii).. OR. C. As definitions A or B but in 2 or 3 unrelated cases/families with the phenotype, with the addition of convincing bioinformatic or functional evidence of causation e.g. known inborn error of metabolism with mutation in orthologous gene which is known to have the relevant deficient enzymatic activity in other species; existence of an animal model which recapitulates the human phenotype.. AND. D. Evidence indicates that disease-causing mutations follow a Mendelian pattern of causation appropriate for reporting in a diagnostic ...
This mutation was identified by sequencing in a CF newborn who was compound heterozygous for p.Gly542X and 2380_2387del. This polymorphism was found on the same allele as 2380_2387del ...
Sequence Variation" is sometimes designated as "polymorphism", indicating that it is "non-disease causing". According to the general definition in human genetics, a "polymorphism" has to reach an allelic frequency of 1%. In addition, when a sequence variation is found in one single individual, it is not possible to determine if it is "non-disease causing" ...
This substitution, located in a transmembrane domain and which seems conservative, was found in a CBAVD patient heterozygous for ^ÐF508, but chromosomal assignment was not possible. Eight coding regions remain to be analysed. V920L creates a MaeII restriction site ...
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Dear all,. please could you recommend any packages in R (and BioC) that are specialized on displaying various mutation profiles (eg heatmaps of mutations vs samples, frequency of mutations etc ;) thank you !. -- bogdan. ...
A recent review in Oncogene discusses how fasting may help patients who have been diagnosed with cancer. This is interesting, because at the moment most people are advised to eat extra calories and proteins while undergoing cancer treatments. It turns out that in animals fasting changes the physiology of the body and this can help protect normal cells from the damaging effects of anti-cancer agents. The amazing thing is that cancer cells are abnormal and dont get the same protection, so fasting seems to be a way to help normal cells and not help the targets of the treatment. It More ,. ...
Revision: 7352 http://octave.svn.sourceforge.net/octave/?rev=7352&view=rev Author: schloegl Date: 2010-05-26 19:49:16 +0000 (Wed, 26 May 2010) Log Message: ----------- better sanity checks; more tests; obsolete functions removed; Modified Paths: -------------- trunk/octave-forge/extra/oct2mat/inst/generate_basics.m trunk/octave-forge/extra/oct2mat/inst/oct2mat trunk/octave-forge/extra/oct2mat/inst/test_oct2mat.m Property Changed: ---------------- trunk/octave-forge/extra/oct2mat/inst/freetb4matlab.m trunk/octave-forge/extra/oct2mat/inst/generate_basics.m trunk/octave-forge/extra/oct2mat/inst/test_oct2mat.m Property changes on: trunk/octave-forge/extra/oct2mat/inst/freetb4matlab.m ___________________________________________________________________ Added: svn:keywords + Id Modified: trunk/octave-forge/extra/oct2mat/inst/generate_basics.m =================================================================== --- trunk/octave-forge/extra/oct2mat/inst/generate_basics.m 2010-05-26 18:11:50 UTC (rev 7351) ...
Hi, Im not sure what your question is, but Id not use a 1996 article as statement of the state of the art. Not all viruses can can mix with others; on the other hand many viruses mutation rate...
최근에 병원의 의료 현장에서 NGS 타겟 시퀀싱 패널을 이용하면서 다양한 유전자들을 동시에 검사하는 건수가 폭발적으로 증가하고 있습니다. 다만 안타깝게도 많은 경우에 실제로 그 유전체 정보와 데이터를 충분히 활용하지 못하고 있음을 많이 느낍니다. 즉, 돈을 들여서 구축된 파이프 라인을 통해서 유전체 데이터 생산은 되는데, 이후에 변이들에 대한 적절한 해석을 하고, 환자에 적용하는데 까지는 아직 더 경험이 필요한 것…
Mutations in the BRCA1 and BRCA2 genes profoundly increase the risk of developing breast and/or ovarian cancer among women. To explore the contribution of BRCA1 and BRCA2 mutations in the development of hereditary breast cancer among Indian women, we carried out mutation analysis of the BRCA1 and BRCA2 genes in 61 breast or ovarian cancer patients from south India with a positive family history of breast and/or ovarian cancer. Mutation analysis was carried out using conformation-sensitive gel electrophoresis (CSGE) followed by sequencing. Mutations were identified in 17 patients (28.0%); 15 (24.6%) had BRCA1 mutations and two (3.28%) had BRCA2 mutations. While no specific association between BRCA1 or BRCA2 mutations with cancer type was seen, mutations were more often seen in families with ovarian cancer. While 40% (4/10) and 30.8% (4/12) of families with ovarian or breast and ovarian cancer had mutations, only 23.1% (9/39) of families with breast cancer carried mutations in the BRCA1 and BRCA2 ...
The qBiomarker Somatic Mutation PCR Assays are a fast and reliable mutation analysis tool using ARMS® (Amplification Refractory Mutation System) primer-based allele discrimination and Hydrolysis Probe-based quantitative real-time PCR technology. It utilizes a proprietary and experimentally verified algorithm for designing mutation-specific qPCR primers and probe. Each qBiomarker Somatic Mutation PCR Assay is subjected to rigorous experimental verification. Both sensitive detection of the intended mutation in a sample (as low as 1% mutant sample on a wild-type sample background) and assay specificity (i.e. discrimination between mutant sample and wild-type sample) are guaranteed when used with the qBiomarker Probe Master Mix. A gene-specific reference assay for checking sample quality and measuring sample input and gene copy dosage is included for each mutation assay. See the qBiomarker Somatic Mutation PCR Array System User Manual/ Handbook for protocol to follow.. The qBiomarker Somatic ...
The qBiomarker Somatic Mutation PCR Assays are a fast and reliable mutation analysis tool using ARMS® (Amplification Refractory Mutation System) primer-based allele discrimination and Hydrolysis Probe-based quantitative real-time PCR technology. It utilizes a proprietary and experimentally verified algorithm for designing mutation-specific qPCR primers and probe. Each qBiomarker Somatic Mutation PCR Assay is subjected to rigorous experimental verification. Both sensitive detection of the intended mutation in a sample (as low as 1% mutant sample on a wild-type sample background) and assay specificity (i.e. discrimination between mutant sample and wild-type sample) are guaranteed when used with the qBiomarker Probe Master Mix. A gene-specific reference assay for checking sample quality and measuring sample input and gene copy dosage is included for each mutation assay. See the qBiomarker Somatic Mutation PCR Array System User Manual/ Handbook for protocol to follow.. The qBiomarker Somatic ...
NSCLC-associated EGFR mutations are most frequently heterozygous. However, Paez et al. (18) reported one mutation involving exon 19 that appeared to be homozygous, and we detected two such cases. Interpretation of mutational status solely from DNA sequencing can be problematic. On the one hand, contaminating normal cells with wild-type EGFR could account for apparent heterozygosity; on the other hand, amplification of mutant EGFR, as occurs in lung cancer (23), could account for detection of only mutant sequences. Mouse models expressing mutant EGFR proteins in the lung and analysis of mutant-positive NSCLCs by fluorescence in situ hybridization and/or array-based comparative genomic hybridization may help address these issues. Interestingly, in one of these tumors (G3), we detected a heterozygous intronic polymorphism downstream of exon 19 (data not shown). In this case, it is probable that a gene conversion event occurred, encompassing the area of deletion in exon 19.. Five of 17 reported ...
TY - JOUR. T1 - Erratum. T2 - A novel nonsense mutation in the ABC1 gene causes a severe syringomyelia-like phenotype of Tangier disease (Brain (April 2003) 26:4 (920-927)). AU - Zuchner, Stephan L. AU - Sperfeld, Anne D.. AU - Senderek, Jan. AU - Sellhaus, Bernd. AU - Hanemann, Clemens Oliver. AU - Schröder, J. Michael. PY - 2003/9/1. Y1 - 2003/9/1. UR - http://www.scopus.com/inward/record.url?scp=0042823411&partnerID=8YFLogxK. UR - http://www.scopus.com/inward/citedby.url?scp=0042823411&partnerID=8YFLogxK. U2 - 10.1093/brain/awg252. DO - 10.1093/brain/awg252. M3 - Article. AN - SCOPUS:0042823411. VL - 126. JO - Brain. JF - Brain. SN - 0006-8950. IS - 9. ER - ...
|i|Background|/i|: the |i|ras|/i| oncogene mutations frequently occurred in acute myeloid leukemia (AML), but as a prognostic factor remains inconclusive. |i|Methods|/i|: The databases of PubMed, Web of Science, EMBASE, and the Cochrane. 22 eligible studies were included this study and analysis was conducted by Comprehensive Meta-Analysis Version 2 software program. All eligible studys quality assessment refers to the European Lung Cancer Party quality scale. |i|Results|/i|: Combined analysis showed that |i|ras|/i| oncogene mutation was a poor impact on survival in AML patients (Hazard ratios (HRs): 1.50, 1.19-1.89, |i|p|/i| |0.001). |i|Nras|/i| gene mutation was a worse survival marker in AML (HR: 1.97, 95% CI: 1.35-2.89, |i|p|/i| |0.001) and |i|Kras|/i| gene mutations was no significance (HR: 1.32, 95% CI: 0.83-2.09, |i|p|/i| =0.24) by stratified analysis. In the analysis of age bracket, adults with |i|ras|/i| gene mutation had an unfavorable survival (HR: 1.55, 95% CI: 1.19-2.21, |i|p|/i| =0.01) and
TY - JOUR. T1 - Compound heterozygosity for a hemizygous rare missense variant (rs141999351) and a large CNV deletion affecting the FSTL5 gene in a patient with schizophrenia. AU - Gardella, Rita. AU - Sacchetti, Emilio. AU - Legati, Andrea. AU - Magri, Chiara. AU - Traversa, Michele. AU - Gennarelli, Massimo. PY - 2016/10/29. Y1 - 2016/10/29. N2 - HighlightsWe identified a potential damaging variant in the FSTL5 gene of a schizophrenia patient.The patient was also a carrier of a CNV deleting almost the whole FSTL5 gene.Our findings are consistent with the double-hit hypothesis of schizophrenia.FSTL5 may be a candidate gene in schizophrenia.. AB - HighlightsWe identified a potential damaging variant in the FSTL5 gene of a schizophrenia patient.The patient was also a carrier of a CNV deleting almost the whole FSTL5 gene.Our findings are consistent with the double-hit hypothesis of schizophrenia.FSTL5 may be a candidate gene in schizophrenia.. UR - ...
TY - JOUR. T1 - Cardiomyopathies. T2 - Classification, clinical characterization, and functional phenotypes. AU - Szczesna-Cordary, Danuta. AU - Morimoto, Sachio. AU - Gomes, Aldrin V.. AU - Moore, Jeffrey R.. PY - 2012/12/26. Y1 - 2012/12/26. UR - http://www.scopus.com/inward/record.url?scp=84871366050&partnerID=8YFLogxK. UR - http://www.scopus.com/inward/citedby.url?scp=84871366050&partnerID=8YFLogxK. U2 - 10.1155/2012/870942. DO - 10.1155/2012/870942. M3 - Article. C2 - 23304510. AN - SCOPUS:84871366050. JO - Biochemistry Research International. JF - Biochemistry Research International. SN - 2090-2247. M1 - 870942. ER - ...
Purpose : Retinitis pigmentosa (RP) is a group of heterogeneous inherited retinal diseases, and the prevalence of RP and frequency of RP genotypes vary across populations. To examine if the mutation spectrum is distinct for patients with RP in the Miami area where a significant portion of the population is Hispanic, we performed targeted next-generation sequencing (NGS) for a cohort of unrelated RP cases recruited from the area. Methods : Comprehensive molecular screening was performed using NGS approach targeting a panel of 186 known retinal human disease genes. Putative pathogenic mutations were identified and validated by Sanger sequencing. Segregation testing was conducted when additional family members are available. Results : A total of 71 unrelated RP families were recruited, including 37 Hispanic families. Putative mutations (35 novel pathogenic mutations) were identified in 46 families, achieving a solving rate of 65%. In 9 families, the PRPF31 was mutant, making it the most commonly ...
Population included 59% of adenocarcinoma, 37% of women and 19% of non-smokers. Overall mutation rate is 46%: 31 EGFR mutations (13%) and 78 KRAS mutations (33%); 40 new mutations compared to previous study were found: 9 EGFR and 31 KRAS. In the ERMETIC 2 cohort, OS and PFS remained significantly (global test p < 0.01) better for EGFR mutated (hazard ration [HR] 0.57 [95%CI: 0.33-1.00] and 0.47 [0.28-0.78] respectively) and worse for KRAS mutated (HR 1.35 [0.97-1.88] and 1.16 respectively [0.85-1.59]) compared to wild-type (WT) NSCLC. No prognostic significant difference was found in the 177 pts common to both cohorts between pts with KRAS mutation in both cohorts (n= 28) and those with new (n = 31) mutations. In the 228 pts with several techniques, KRAS mutations detected by less sensitive technique (n = 42) have a lower OS compared to WT than those detected only by the best sensitive technique (n = 34), but are not significantly different: 1.63 (1.09-2.44) and 1.08 (0.69-1.69); results between ...