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

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: GSE128584 | GEO | 2021/03/31

REPOSITORIES: GEO

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

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 | GSE128583 | GEO

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

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Chromothripsis is a prognostic factor in early-onset breast cancer

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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'.

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

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

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Marker chromosomes can arise from chromothripsis and predict adverse prognosis in acute myeloid leukemia

Project description:Metaphase karyotyping is an established diagnostic standard in acute myeloid leukemia (AML) for risk stratification. One of the cytogenetic findings in AML are structurally highly abnormal marker chromosomes. In this study, we have assessed frequency, cytogenetic characteristics, prognostic impact and underlying biological origin of marker chromosomes. Given their inherent gross structural chromosomal damage, we speculated that they may arise from chromothripsis, a recently described phenomenon of chromosome fragmentation in a single catastrophic event. In 2 large consecutive prospective, randomized, multicenter, intensive chemotherapy trials (AML96, AML2003) from the Study Alliance Leukemia (SAL), marker chromosomes were detectable in 165/1026 (16.1%) of aberrant non-core-binding-factor (CBF) karyotype patients. Adverse-risk karyotypes displayed a higher frequency of marker chromosomes (26.5% in adverse-risk, 40.3% in complex aberrant and 41.2% in abnormality(17p) karyotypes, p<.0001 each). Marker chromosomes were associated with a poorer prognosis compared to other non-CBF aberrant karyotypes and led to lower remission rates (CR+CRi), inferior event-free survival as well as overall survival in both trials. In multivariate analysis, marker chromosomes independently predicted poor prognosis in the AML96 trial ≤60 years. As detected by array-CGH, about one third of marker chromosomes (18/49) had arisen from chromothripsis, whereas this phenomenon was virtually undetectable in a control group of marker chromosome-negative complex aberrant karyotypes (1/34). The chromothripsis-positive cases were characterized by a particularly high degree of karyotype complexity and dismal prognosis. In conclusion, marker chromosomes are indicative of chromothripsis and associated with poor prognosis per se and not merely by association with other adverse cytogenetic features.

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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.

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