The Experts below are selected from a list of 267 Experts worldwide ranked by ideXlab platform
Sophie Piperno-neumann - One of the best experts on this subject based on the ideXlab platform.
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Association of Partial Chromosome 3 Deletion in Uveal Melanomas With Metastasis-Free Survival
JAMA Ophthalmology, 2020Co-Authors: Manuel Rodrigues, Khadija Ait Rais, Flore Salviat, Nathalie Algret, Fatoumata Simaga, Raymond Barnhill, Sophie Gardrat, Vincent Servois, Pascale Mariani, Sophie Piperno-neumannAbstract:Importance: Studies on uveal melanomas (UMs) have demonstrated the prognostic value of 8q gain and monosomy 3, but the prognosis of UMs with partial deletion of Chromosome 3 remains to be defined. Objective: To examine the association of partial Chromosome 3 deletion in UMs with metastasis-free survival. Design, setting, and participants: This retrospective cohort study of 1088 consecutive comparative genomic hybridization arrays performed from May 1, 2006, to July 31, 2015, assessed patients presenting with UMs with and without partial loss of Chromosome 3 at a referral center. Data analysis was performed from September 1, 2017, to November 30, 2017. Exposure: Uveal melanoma with or without partial loss of Chromosome 3. Main outcomes and measures: Metastasis-free survival and overall survival at 60 months. Results: Of the 1088 consecutive comparative genomic hybridization arrays that were performed, 43 UMs (4.0%) in 43 patients (median age, 58 years [range, 12-79 years]; 22 [51%] female) carried partial deletions of Chromosome 3. Median follow-up was 66 months (range, 1.2-126.2 months). Metastasis-free survival at 60 months was 33.6% (95% CI, 15.8%-71.4%) for UMs that carried a deletion of the BAP1 (BRCA1 associated protein 1) locus (BAP1del; 24 tumors) and 80.5% (95% CI, 64.8%-100%) for UMs without the loss of the BAP1 locus (BAP1 normal [BAP1nl]; 19 tumors) (log-rank P = .001). Overall survival at 60 months was 64.5% (95% CI, 43.5%-95.8%) in the BAP1del group vs 84.1% (95% CI, 69.0%-100%) in the BAP1nl group (log-rank P < .001). In these 43 cases, metastasis-free survival at 60 months was 100% for UMs without loss of the BAP1 locus or 8q gain, 70.0% (95% CI, 50.5%-96.9%) for UMs that carried 1 of these alterations, and 12.5% (95% CI, 2.1%-73.7%) for those that carried both (log-rank P < .001). Similarly, overall survival at 60 months was 100% for UMs without loss of the BAP1 locus or 8q gain, 80.8% (95% CI, 63.3%-100%) for UMs that carried 1 of these alterations, and 46.7% (95% CI, 23.3%-93.6%) for those that carried both (log-rank P < .001). Conclusions and relevance: These findings suggest that partial deletion of Chromosome 3 encompassing the BAP1 locus is associated with poor prognosis. A cytogenetic classification of UMs could be proposed based on the status of the BAP1 locus instead of the Chromosome 3 locus, while also taking Chromosome 8q into account.
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Association of Partial Chromosome 3 Deletion in Uveal Melanomas With Metastasis-Free Survival.
JAMA ophthalmology, 2020Co-Authors: Manuel Rodrigues, Flore Salviat, Nathalie Algret, Fatoumata Simaga, Raymond Barnhill, Sophie Gardrat, Vincent Servois, Pascale Mariani, Khadija Ait Rais, Sophie Piperno-neumannAbstract:Importance Studies on uveal melanomas (UMs) have demonstrated the prognostic value of 8q gain and monosomy 3, but the prognosis of UMs with partial deletion of Chromosome 3 remains to be defined. Objective To examine the association of partial Chromosome 3 deletion in UMs with metastasis-free survival. Design, Setting, and Participants This retrospective cohort study of 1088 consecutive comparative genomic hybridization arrays performed from May 1, 2006, to July 31, 2015, assessed patients presenting with UMs with and without partial loss of Chromosome 3 at a referral center. Data analysis was performed from September 1, 2017, to November 30, 2017. Exposure Uveal melanoma with or without partial loss of Chromosome 3. Main Outcomes and Measures Metastasis-free survival and overall survival at 60 months. Results Of the 1088 consecutive comparative genomic hybridization arrays that were performed, 43 UMs (4.0%) in 43 patients (median age, 58 years [range, 12-79 years]; 22 [51%] female) carried partial deletions of Chromosome 3. Median follow-up was 66 months (range, 1.2-126.2 months). Metastasis-free survival at 60 months was 33.6% (95% CI, 15.8%-71.4%) for UMs that carried a deletion of theBAP1 (BRCA1associated protein 1) locus (BAP1del; 24 tumors) and 80.5% (95% CI, 64.8%-100%) for UMs without the loss of theBAP1locus (BAP1 normal [BAP1nl]; 19 tumors) (log-rankP= .001). Overall survival at 60 months was 64.5% (95% CI, 43.5%-95.8%) in the BAP1del group vs 84.1% (95% CI, 69.0%-100%) in the BAP1nl group (log-rankP Conclusions and Relevance These findings suggest that partial deletion of Chromosome 3 encompassing theBAP1locus is associated with poor prognosis. A cytogenetic classification of UMs could be proposed based on the status of theBAP1locus instead of the Chromosome 3 locus, while also taking Chromosome 8q into account.
J. Cypser - One of the best experts on this subject based on the ideXlab platform.
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A second-generation YAC contig map of human Chromosome 3.
Nature, 1995Co-Authors: R.m. Gemmill, P. Scott, J. Cypser, J. Weissenbach, I Chumakov, B Waggoner, P Rigault, Q Chen, K Gardiner, H WangAbstract:A map of human Chromosome 3 which integrates both physical and genetic data has been developed from the fusion of two large collections of markers and corresponding yeast artificial Chromosome (YAC) clones. The map contains 972 megabase-sized YACs identified with 593 primary markers, of which 162 are highly polymorphic sequence-tagged sites (STSs) and form a closely spaced genetic linkage map; the remaining markers are hybridization-based. Chromosome 3 is now represented by 24 large YAC contigs whose order and orientation is largely known. The map generated by fusion of these hybridization- and STS-based datasets covers about 80% (over 160 megabases) of the Chromosome and will provide the foundation necessary for rapid development of a detailed genetic understanding for this large autosome.
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An integrated YAC contig map for human Chromosome 3
American Journal of Human Genetics, 1994Co-Authors: R.m. Gemmill, P. Scott, J. CypserAbstract:An integrated physical map of human Chromosome 3, containing 590 primary markers and 694 corresponding megabase-sized YACs, has been developed from the fusion of two large datasets. YACs identified with 462 physically localized hybridization-based probes and 120 genetically linked polymorphic STSs form the basis of the contigs. Many additional Chromosome 3-specific YACs were identified by Alu-PCR hybridization and fingerprint analyses. Contigs defined entirely by primary marker content (level 1) provide >70% coverage. Since the markers used are Chromosome 3-specific and have been previously localized by genetic or regional positioning, the reliability of the data at this level is extremely high. Alu-PCR and fingerprint analyses identified overlapping YACs which have permitted fusion and extension of these primary contigs. Selected incorporation of these data has resulted in an integrated coverage of over 80% at level 3. This level corresponds to the use of a single YAC to bridge gaps between YACs or contigs identified by primary markers. Limiting level 3 connections such that the STS or hybridization probe-containing YACs are derived from a common chromosomal segment has helped to ensure their authenticity. The Chromosome is now represented by a number of very large YAC contigs whose order is known. Some of themore » gaps which separate these contigs can be bridged using Alu-PCR and fingerprint data at level 4, although these connections require STS confirmation. The map generated by fusion of the hybridization and STS based datasets is a major advance over maps possible from either dataset alone, both in terms of overall coverage and reliability, and should provide the foundation for development of a transcriptional map and a higher resolution physical map.« less
Manuel Rodrigues - One of the best experts on this subject based on the ideXlab platform.
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Association of Partial Chromosome 3 Deletion in Uveal Melanomas With Metastasis-Free Survival
JAMA Ophthalmology, 2020Co-Authors: Manuel Rodrigues, Khadija Ait Rais, Flore Salviat, Nathalie Algret, Fatoumata Simaga, Raymond Barnhill, Sophie Gardrat, Vincent Servois, Pascale Mariani, Sophie Piperno-neumannAbstract:Importance: Studies on uveal melanomas (UMs) have demonstrated the prognostic value of 8q gain and monosomy 3, but the prognosis of UMs with partial deletion of Chromosome 3 remains to be defined. Objective: To examine the association of partial Chromosome 3 deletion in UMs with metastasis-free survival. Design, setting, and participants: This retrospective cohort study of 1088 consecutive comparative genomic hybridization arrays performed from May 1, 2006, to July 31, 2015, assessed patients presenting with UMs with and without partial loss of Chromosome 3 at a referral center. Data analysis was performed from September 1, 2017, to November 30, 2017. Exposure: Uveal melanoma with or without partial loss of Chromosome 3. Main outcomes and measures: Metastasis-free survival and overall survival at 60 months. Results: Of the 1088 consecutive comparative genomic hybridization arrays that were performed, 43 UMs (4.0%) in 43 patients (median age, 58 years [range, 12-79 years]; 22 [51%] female) carried partial deletions of Chromosome 3. Median follow-up was 66 months (range, 1.2-126.2 months). Metastasis-free survival at 60 months was 33.6% (95% CI, 15.8%-71.4%) for UMs that carried a deletion of the BAP1 (BRCA1 associated protein 1) locus (BAP1del; 24 tumors) and 80.5% (95% CI, 64.8%-100%) for UMs without the loss of the BAP1 locus (BAP1 normal [BAP1nl]; 19 tumors) (log-rank P = .001). Overall survival at 60 months was 64.5% (95% CI, 43.5%-95.8%) in the BAP1del group vs 84.1% (95% CI, 69.0%-100%) in the BAP1nl group (log-rank P < .001). In these 43 cases, metastasis-free survival at 60 months was 100% for UMs without loss of the BAP1 locus or 8q gain, 70.0% (95% CI, 50.5%-96.9%) for UMs that carried 1 of these alterations, and 12.5% (95% CI, 2.1%-73.7%) for those that carried both (log-rank P < .001). Similarly, overall survival at 60 months was 100% for UMs without loss of the BAP1 locus or 8q gain, 80.8% (95% CI, 63.3%-100%) for UMs that carried 1 of these alterations, and 46.7% (95% CI, 23.3%-93.6%) for those that carried both (log-rank P < .001). Conclusions and relevance: These findings suggest that partial deletion of Chromosome 3 encompassing the BAP1 locus is associated with poor prognosis. A cytogenetic classification of UMs could be proposed based on the status of the BAP1 locus instead of the Chromosome 3 locus, while also taking Chromosome 8q into account.
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Association of Partial Chromosome 3 Deletion in Uveal Melanomas With Metastasis-Free Survival.
JAMA ophthalmology, 2020Co-Authors: Manuel Rodrigues, Flore Salviat, Nathalie Algret, Fatoumata Simaga, Raymond Barnhill, Sophie Gardrat, Vincent Servois, Pascale Mariani, Khadija Ait Rais, Sophie Piperno-neumannAbstract:Importance Studies on uveal melanomas (UMs) have demonstrated the prognostic value of 8q gain and monosomy 3, but the prognosis of UMs with partial deletion of Chromosome 3 remains to be defined. Objective To examine the association of partial Chromosome 3 deletion in UMs with metastasis-free survival. Design, Setting, and Participants This retrospective cohort study of 1088 consecutive comparative genomic hybridization arrays performed from May 1, 2006, to July 31, 2015, assessed patients presenting with UMs with and without partial loss of Chromosome 3 at a referral center. Data analysis was performed from September 1, 2017, to November 30, 2017. Exposure Uveal melanoma with or without partial loss of Chromosome 3. Main Outcomes and Measures Metastasis-free survival and overall survival at 60 months. Results Of the 1088 consecutive comparative genomic hybridization arrays that were performed, 43 UMs (4.0%) in 43 patients (median age, 58 years [range, 12-79 years]; 22 [51%] female) carried partial deletions of Chromosome 3. Median follow-up was 66 months (range, 1.2-126.2 months). Metastasis-free survival at 60 months was 33.6% (95% CI, 15.8%-71.4%) for UMs that carried a deletion of theBAP1 (BRCA1associated protein 1) locus (BAP1del; 24 tumors) and 80.5% (95% CI, 64.8%-100%) for UMs without the loss of theBAP1locus (BAP1 normal [BAP1nl]; 19 tumors) (log-rankP= .001). Overall survival at 60 months was 64.5% (95% CI, 43.5%-95.8%) in the BAP1del group vs 84.1% (95% CI, 69.0%-100%) in the BAP1nl group (log-rankP Conclusions and Relevance These findings suggest that partial deletion of Chromosome 3 encompassing theBAP1locus is associated with poor prognosis. A cytogenetic classification of UMs could be proposed based on the status of theBAP1locus instead of the Chromosome 3 locus, while also taking Chromosome 8q into account.
Reginald H. Slade - One of the best experts on this subject based on the ideXlab platform.
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46,XY, t(3;22)(p2;q13) resuIting in partial trisomy for the short arm of Chromosome 3
Clinical Genetics, 2008Co-Authors: Rawatmal B. Surana, Michael E. Braudo, Patrick E. Conen, Reginald H. SladeAbstract:A familial translocation involving the short arm of Chromosome 3 and the long, arm of Chromosome 22 is reported, along with an infant with multiple congenital anomalies, which are probably the result of partial trisomy for the short arm of Chromosome 3.
David I Smith - One of the best experts on this subject based on the ideXlab platform.
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precise localization of aphidicolin induced breakpoints on the short arm of human Chromosome 3
Genomics, 1995Co-Authors: William Paradee, Chadwick Mullins, Zhanquan He, Thomas W Glover, Charles M Wilke, Bertram Opalka, Jochen Schutte, David I SmithAbstract:Abstract The common fragile site at 3p14.2 (FRA3B) has been described as the most active fragile site in the human genome. This locus may predispose Chromosome 3 to specific losses due to deletions and translocations that have been associated with several malignancies, including hereditary renal cell carcinoma. We have previously described induction of breakage around FRA3B using aphidicolin in a somatic cell hybrid whose only human component was a single intact Chromosome 3. That work led to the isolation of hybrids with breakpoints in the 3p13-p21.1 region with loss of all sequences distal to their respective breakpoints. In this report we describe the further characterization of the breakpoints in many of these cell lines using newly available molecular markers. We also report the identification of YAC clones that span the breakpoints present in many of these hybrids.
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Localization of 616 human Chromosome 3-specific cosmids using a somatic cell hybrid deletion mapping panel.
Genomics, 1991Co-Authors: David I Smith, David Ginzinger, Patricia Green, Scott E. Smith, Nai Dy Wang, Franco Recchia, Kathy Carolyn, Harry A. Drabkin, William GolembieskiAbstract:Abstract A total of 5700 human Chromosome 3-specific cosmid clones was isolated from a series of cosmid libraries constructed from somatic cell hybrids whose only human component was an entire Chromosome 3 or a Chromosome 3 containing an interstitial deletion removing 50% of long arm sequences. Several unique sequence Chromosome 3-specific hybridization probes were isolated from each of 616 of these cosmids. These probes were then used to localize the cosmids by hybridization to a somatic cell hybrid deletion mapping panel capable of resolving Chromosome 3 into nine distinct subregions. All 616 of the cosmids were localized to either the long or short arm of Chromosome 3 and 63% of the short arm cosmids were more precisely localized. We have identified a total of 87 cosmids that contain fragments that are evolutionarily conserved. Fragments from these cosmids should prove useful in the identification of new Chromosome 3-specific genes as well as in comparative mapping studies. The localized cosmids should provide excellent saturation of human Chromosome 3 and facilitate the construction of physical and genetic linkage maps to identify various disease loci including Von Hippel Lindau disease and renal and small cell lung carcinoma.
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Isolation of large numbers of Chromosome 3-specific cosmids containing clusters of rare restriction-endonuclease sites.
American journal of human genetics, 1991Co-Authors: William Golembieski, Scott E. Smith, Franco Recchia, Harry A. Drabkin, Andleeb Judge, Vijayalakshmi Shridhar, Orlando J. Miller, David I SmithAbstract:We tested 519 Chromosome 3-specific cosmids for the presence of rare restriction-endonuclease sites in a search for cosmids containing HTF islands. We have identified 49 cosmids (9% of those tested) that contain multiple rare restriction-endonuclease sites. The cosmids were digested with several common cutting restriction endonucleases to liberate small fragments which were tested as unique-sequence Chromosome 3-specific hybridization probes and for evolutionary sequence conservation. Unique-sequence hybridization probes isolated from the cosmids were hybridized to a somatic cell hybrid deletion mapping panel to subchromosomally localize the cosmids. Fragments from many of these cosmids demonstrated conservation of sequence through evolution, and these fragments hybridize to distinct transcripts. These cosmids should therefore prove a useful resource for the identification of many Chromosome 3-specific genes, in addition to having potential use as linking clones for pulsed-field gel mapping studies.