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Lineage-Independent Tumors in Bilateral Neuroblastoma.
(2020-11)
Childhood tumors that occur synchronously in different anatomical sites usually represent metastatic disease. However, such tumors can be independent neoplasms. We investigated whether cases of bilateral neuroblastoma ...
Germline mutations in the PAF1 complex gene CTR9 predispose to Wilms tumour.
(NATURE PUBLISHING GROUP, 2014-08-07)
Wilms tumour is a childhood kidney cancer. Here we identify inactivating CTR9 mutations in 3 of 35 Wilms tumour families, through exome and Sanger sequencing. By contrast, no similar mutations are present in 1,000 population ...
Protein-altering germline mutations implicate novel genes related to lung cancer development.
(NATURE PORTFOLIO, 2020-05-11)
Few germline mutations are known to affect lung cancer risk. We performed analyses of rare variants from 39,146 individuals of European ancestry and investigated gene expression levels in 7,773 samples. We find a large-effect ...
Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study.
(ELSEVIER SCIENCE INC, 2018-02-01)
BACKGROUND: Retrospective studies provide conflicting interpretations of the effect of inherited genetic factors on the prognosis of patients with breast cancer. The primary aim of this study was to determine the effect ...
Germline DNA Repair Gene Mutations in Young-onset Prostate Cancer Cases in the UK: Evidence for a More Extensive Genetic Panel.
(ELSEVIER, 2019-09-01)
BACKGROUND: Rare germline mutations in DNA repair genes are associated with prostate cancer (PCa) predisposition and prognosis. OBJECTIVE: To quantify the frequency of germline DNA repair gene mutations in UK PCa cases and ...
Germline-focussed analysis of tumour-only sequencing: recommendations from the ESMO Precision Medicine Working Group.
(OXFORD UNIV PRESS, 2019-08-01)
It is increasingly common in oncology practice to perform tumour sequencing using large cancer panels. For pathogenic sequence variants in cancer susceptibility genes identified on tumour-only sequencing, it is often unclear ...
The role of genomic profiling in adolescents and young adults (AYAs) with advanced cancer participating in phase I clinical trials.
(ELSEVIER SCI LTD, 2018-05-01)
INTRODUCTION: Adolescents and young adults (AYAs) diagnosed with cancer between ages 15-39 years may harbour germline variants associated with cancer predisposition. Such variants represent putative therapeutic targets, ...
Risks of breast or ovarian cancer in BRCA1 or BRCA2 predictive test negatives: findings from the EMBRACE study.
(NATURE PUBLISHING GROUP, 2018-12-01)
PURPOSE: BRCA1/BRCA2 predictive test negatives are proven noncarriers of a BRCA1/BRCA2 mutation that is carried by their relatives. The risk of developing breast cancer (BC) or epithelial ovarian cancer (EOC) in these women ...
Germline-focused analysis of tumour-detected variants in 49,264 cancer patients: ESMO Precision Medicine Working Group recommendations.
(ELSEVIER, 2023-03-01)
BACKGROUND: The European Society for Medical Oncology Precision Medicine Working Group (ESMO PMWG) was reconvened to update its 2018/19 recommendations on follow-up of putative germline variants detected on tumour-only ...
The impact of coding germline variants on contralateral breast cancer risk and survival.
(CELL PRESS, 2023-03-02)
Evidence linking coding germline variants in breast cancer (BC)-susceptibility genes other than BRCA1, BRCA2, and CHEK2 with contralateral breast cancer (CBC) risk and breast cancer-specific survival (BCSS) is scarce. The ...