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Chromothripsis is a prognostic factor in early-onset breast cancer [CytoScan750K_Array]

ABSTRACT: Breast cancer in Spain remains the first leading cause of cancer-related death in women from all age, and in younger women breast tumors often exhibit more aggressive phenotypes, worse prognosis and more frequently germline mutation in BRCA1/2 genes. Chromothripsis, a massive genome rearrangement, has been recently described but its etiology and effect on cancer cells remain unknown. Chromothripsis in breast cancer has been poorly studied and prevalence rates vary between 11-61%. We have studied chromothripsis-like patterns (CTLPs) in 58 DNA extracted from formalin-fixed paraffin-embedded (FFPE) breast cancer tissues from patients below 40 years old. Chromothripsis was confirmed with website tool CTLPScanner in 10/58 (17%) and most frequently involved chromosomal segment was 17q12-q21 (5/10 cases, 50%). We have also find that chromothripsis was related to low recurrence rates and familial history of breast cancer. In summary, we have analyzed chromothripsis in early-onset breast cancer for the first time and could have a prognostic value for this patients

ORGANISM(S): Homo sapiens

PROVIDER: GSE128583 | GEO | 2021/03/31

REPOSITORIES: GEO

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Chromothripsis is a prognostic factor in early-onset breast cancer [OncoScan_CNV]

Project description:Breast cancer in Spain remains the first leading cause of cancer-related death in women from all age, and in younger women breast tumors often exhibit more aggressive phenotypes, worse prognosis and more frequently germline mutation in BRCA1/2 genes. Chromothripsis, a massive genome rearrangement, has been recently described but its etiology and effect on cancer cells remain unknown. Chromothripsis in breast cancer has been poorly studied and prevalence rates vary between 11-61%. We have studied chromothripsis-like patterns (CTLPs) in 58 DNA extracted from formalin-fixed paraffin-embedded (FFPE) breast cancer tissues from patients below 40 years old. Chromothripsis was confirmed with website tool CTLPScanner in 10/58 (17%) and most frequently involved chromosomal segment was 17q12-q21 (5/10 cases, 50%). We have also find that chromothripsis was related to low recurrence rates and familial history of breast cancer. In summary, we have analyzed chromothripsis in early-onset breast cancer for the first time and could have a prognostic value for this patients

2021-03-31 | GSE128586 | GEO

Chromothripsis is a prognostic factor in early-onset breast cancer [OncoScan]

2021-03-31 | GSE128584 | GEO

chromothripsis in neuroblastoma

Project description:chromothripsis in neuroblastoma

| PRJEB671 | ENA

Chromothripsis is a prognostic factor in early-onset breast cancer

Project description:Chromothripsis is a prognostic factor in early-onset breast cancer

| PRJNA528208 | ENA

Genome sequencing of childhood medulloblastoma brain tumors links chromothripsis with TP53 mutations

Project description:Genomic rearrangements typically occur progressively during tumor development. Recent findings, however, suggest an alternative mechanism, involving chromosome shattering and reshuffling ('chromothripsis'), for which no genetic basis has yet been described. Whole-genome sequencing of a Sonic-Hedgehog medulloblastoma (SHH-MB) brain tumor from a patient with a germline TP53 mutation (Li-Fraumeni syndrome) revealed massive, complex rearrangements resulting from chromothripsis. Integrating TP53 status with genomic rearrangement data in additional medulloblastomas revealed a striking association between TP53 mutation and chromothripsis in SHH-MBs. Unexpectedly, five seemingly sporadic SHH-MB patients with chromothripsis harbored TP53 germline mutations – findings relevant for clinical management. Analysis of additional tumor entities substantiated a link between TP53 mutation and chromothripsis, beyond general genomic instability. Among these, we observed a strong association between somatic TP53 mutations and chromothripsis in acute myeloid leukemia. These findings implicate p53 in the initiation of, or cellular reaction to, chromothripsis – a novel role for the 'guardian of the genome'.

2012-01-20 | GSE34258 | GEO

Chromothripsis is a prognostic factor in early-onset breast cancer [OncoScan]

Project description:Chromothripsis is a prognostic factor in early-onset breast cancer [OncoScan]

| PRJNA528213 | ENA

Chromothripsis is a prognostic factor in early-onset breast cancer [OncoScan_CNV]

Project description:Chromothripsis is a prognostic factor in early-onset breast cancer [OncoScan_CNV]

| PRJNA528214 | ENA

Chromothripsis is a prognostic factor in early-onset breast cancer [CytoScan750K_Array]

Project description:Chromothripsis is a prognostic factor in early-onset breast cancer [CytoScan750K_Array]

| PRJNA528200 | ENA

Genome sequencing of childhood medulloblastoma brain tumors links chromothripsis with TP53 mutations

2012-01-20 | E-GEOD-34258 | biostudies-arrayexpress

Induced genomic rearrangements and chromothripsis by micronucleus-mediated chromosome transfer [CytoSNP12]

Project description:Chromosome segregation errors have been linked to DNA damage and genomic rearrangements. Accumulating evidence has shown that catastrophic genomic rearrangements, like chromothripsis, can result from lagging chromosomes undergoing aberrant DNA replication and DNA damage in micronuclei. Detailed characterization of genomic rearrangements resulting from DNA damage in micronuclei has been hampered because of difficulties in culturing daughter cells with DNA damage. Here, we employ a method by which a specific single chromosome is trapped in a micronucleus, followed by transfer to an acceptor cell. Next, stably propagating clonal cell lines with an extra chromosome were established and analyzed by copy number profiling and whole genome sequencing. While non-transformed, p53 proficient and telomerase-immortalized RPE1 cells showed a stable genome following addition of the transferred chromosome, we observed frequent de novo genomic rearrangements in cells derived from the HCT116 colorectal cancer cell line after chromosome transfer. The de novo rearrangements varied from simple deletions and duplications to complex rearrangements. Phase-informative SNPs revealed that the rearrangements specifically occurred on the transferred chromosome. We found that the complex rearrangements recapitulated all features of chromothripsis, including massive oscillation between two copy number states, localization to a single chromosome, random joining of chromosome fragments and non-homologous or micro-homologous repair. We describe an approach that enables the isolation of clonal cell lines with genomic rearrangements and chromothripsis on a specific chromosome in p53 proficient cells. The procedure enables further investigation of the exact mechanism leading to chromothripsis and the analysis of its consequences for cell survival (viability) and cancer development.

2015-08-13 | GSE71978 | GEO

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