7083 results for "canc*"

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• Tumour sample for patient SA590

  Whole genome sequencing of tumour sample for triple negative breast cancer patient SA590

  Dataset EGAD00001009196

• Tumour sample for patient SA402

  Whole genome sequencing of tumour sample for triple negative breast cancer patient SA402

  Dataset EGAD00001009189

• Tumour sample for patient SA404

  Whole genome sequencing of tumour sample for triple negative breast cancer patient SA404

  Dataset EGAD00001009190

• Tumour sample for patient SA585

  Whole genome sequencing of tumour sample for triple negative breast cancer patient SA585

  Dataset EGAD00001009192

• Tumour sample for patient SA588

  Whole genome sequencing of tumour sample for triple negative breast cancer patient SA588

  Dataset EGAD00001009194

• Tumour sample for patient SA593

  Whole genome sequencing of tumour sample for triple negative breast cancer patient SA593

  Dataset EGAD00001009199

• Tumour sample for patient SA595

  Whole genome sequencing of tumour sample for triple negative breast cancer patient SA595

  Dataset EGAD00001009200

• Comprehensive cancer predisposition gene testing in an adult multiple primary tumor series shows a broad range of deleterious variants and atypical tumor phenotypes

  Multiple primary tumors (MPT) affect a substantial proportion of cancer survivors and may result from various causes including inherited predisposition. Currently, germline genetic testing of MPT cases for cancer predisposition gene (CPG) variants is mostly targeted by tumor type. We ascertained pre-assessed MPT cases from genetics centers (defined as ≥2 primaries by age 60 years or ≥3 by 70) and performed whole genome sequencing (WGS) on 460 individuals from 440 families. Despite previous negative genetic assessment/molecular investigations, pathogenic variants in moderate and high-risk CPGs were detected in 67/440 (15.2%) of probands. WGS detected variants that would not be (or were not) detected by targeted resequencing strategies including structural variants at low frequency (6/440 (1.4%) of probands). In most individuals with a germline variant assessed as pathogenic or likely pathogenic (P/LP), at least one of their tumor types was characteristic of variants in the relevant CPG. However, in 29 probands (42.2% of those with a P/LP variant) the tumor phenotype appeared discordant. The frequency of individuals with truncating or splice site CPG variants and at least one discordant tumor type was significantly higher than a control population (χ2=43.642 P=<0.0001). 2/67 (3%) of probands with P/LP variants had evidence of multiple inherited neoplasia allele syndrome (MINAS) with deleterious variants in two CPGs. Summing together variant detection rates from a similarly ascertained previous MPT case series, the present results suggest that first-line comprehensive CPG analysis in a clinical genetics referral-based MPT cohort would detect a deleterious variant in about a third of cases.

  Dataset EGAD00001004088

• Tumour sample for patient SA599

  Whole genome sequencing of tumour sample for triple negative breast cancer patient SA599

  Dataset EGAD00001009203

• Tumour sample for patient SA601

  Whole genome sequencing of tumour sample for triple negative breast cancer patient SA601

  Dataset EGAD00001009205