Magali Olivier

Magali Olivier
International Agency for Research on Cancer · Molecular Mechanisms and Biomarkers Group

PhD

About

155
Publications
20,551
Reads
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11,427
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Introduction
Research scientist (PhD) at IARC for 20 years, my expertise covers molecular biology and epidemiology of cancer, next generation sequencing, cancer genomics, bioinformatics and biological databases. I have been working on research topics that include: • Functional genomics and molecular epidemiology of breast cancer • TP53 mutations in human cancer: the IARC TP53 database (http://p53.iarc.fr) • Circulating tumor DNA in lung cancer • Mutational signatures as biomarkers of cancer etiology
Additional affiliations
January 2000 - present
International Agency for Research on Cancer
Position
  • Molecular Epidemiology of Cancer
February 1998 - September 1999
City University of New York - Hunter College
Position
  • Molecular biology of Cancer
January 1994 - present
Institut de Génétique Moléculaire de Montpellier
Position
  • Molecular biology of Cancer

Publications

Publications (155)
Article
Full-text available
Recurrent upper urinary tract carcinomas (UTUC) arise in the context of nephropathy linked to exposure to the herbal carcinogen aristolochic acid (AA). Here we delineated the molecular programs underlying UTUC tumorigenesis in patients from endemic aristolochic acid nephropathy (AAN) regions in Southern Europe. We applied an integrative multi-omics...
Article
Germline pathogenic variants in TP53 are associated with Li‐Fraumeni syndrome (LFS), a cancer predisposition disorder inherited in an autosomal dominant pattern associated with high risk of malignancy, including early onset breast cancers, sarcomas, adrenocortical carcinomas, and brain tumors. Intense cancer surveillance for individuals with TP53 g...
Article
Full-text available
Cumulating evidence in Caucasian women suggests a positive association between height and premenopausal breast cancer risk and a negative association with overall adiposity; however data from Latin America are scarce. We investigated the associations between excess adiposity, body shape evolution across life, and risk of premenopausal breast cancer...
Article
Full-text available
Gaps in the translation of research findings to clinical management have been recognised for decades. They exist for the diagnosis as well as the management of cancer. The international standards for cancer diagnosis are contained within the World Health Organization (WHO) Classification of Tumours, published by the International Agency for Researc...
Article
Full-text available
Background: The detection of known human papillomaviruses (PVs) from targeted wet-lab approaches has traditionally used PCR-based methods coupled with Sanger sequencing. With the introduction of next-generation sequencing (NGS), these approaches can be revisited to integrate the sequencing power of NGS. Although computational tools have been devel...
Preprint
Full-text available
Germline pathogenic variants in TP53 are associated with Li-Fraumeni syndrome (LFS), an autosomal dominant cancer predisposition disorder associated with high risk of malignancy, including early onset breast cancers, sarcomas, adrenocortical carcinomas and brain tumors. Intense cancer surveillance for individuals with TP53 germline pathogenic varia...
Article
Full-text available
pRecAMA team † cumulating evidence in caucasian women suggests a positive association between height and premenopausal breast cancer risk and a negative association with overall adiposity; however data from Latin America are scarce. We investigated the associations between excess adiposity, body shape evolution across life, and risk of premenopausa...
Article
Full-text available
Objective: To describe the rationale and the methodology of a multicenter project to study the etiology of breast cancer in young Latin American women. Materials and methods: The International Agency for Research on Cancer has established an international collaborative population-based case-control study in four countries in Latin America: Chile...
Conference Paper
Gastric and esophageal adenocarcinomas (G/EAC) exhibit a characteristic pattern of somatic variants, known as signature 17. Signature 17 associates with high mutation burden, elevated neoantigen levels and a potential sensitivity to cell cycle inhibitors. Signature 17 correlates with poor survival, and is increased in cancer patients with a history...
Article
Humans are frequently exposed to acrylamide, a probable human carcinogen found in commonplace sources such as most heated starchy foods or tobacco smoke. Prior evidence has shown that acrylamide causes cancer in rodents, yet epidemiological studies conducted to date are limited and, thus far, have yielded inconclusive data on association of human c...
Article
Germline pathogenic variants in the TP53 gene cause Li‐Fraumeni Syndrome, a condition that predisposes individuals to a wide range of cancer types. Identification of individuals carrying a TP53 pathogenic variant is linked to clinical management decisions, such as the avoidance of radiotherapy and use of high intensity screening programs. The aim o...
Article
Full-text available
Background In Latin America (LA), there is a high incidence rate of breast cancer (BC) in premenopausal women, and the genomic features of these BC remain unknown. Here, we aim to characterize the molecular features of BC in young LA women within the framework of the PRECAMA study, a multicenter population-based case–control study of BC in premenop...
Data
Distribution of IHC subtypes in PRECAMA samples and in preBC extracted from METABRIC and TCGA studies. Comparison of the distribution of IHC subtypes observed in PRECAMA and in preBC from a dataset extracted from METABRIC and TCGA (see Materials and Methods). Luminal A: ER+/HER2-; luminal B: ER+/HER2+; HER2-enriched: ER-/HER2+; triple-negative: ER-...
Data
Tables A-F Table A: Demographics and molecular characteristics of cases analyzed by next-generation sequencing; Table B: Whole-exome sequencing data metrics; Table C: Mutations in coding regions from whole-exome sequencing and mutation calling with Strelka; Table D: List of mutated genes in TN cases with mutations present at an allele frequency >20...
Data
Mutation characteristics and distribution of IHC subtypes in PRECAMA samples compared with an independent dataset of preBC. Data on 123 preBC cases with receptor status information reported in Nik-Zainal et al. (2016) were retrieved from supplementary materials (clinical information) or from COSMIC (mutation data) [6]. (A) Occurrences of mutations...
Article
Full-text available
Etiological differences among breast cancer (BC) subtypes have not been clearly established, especially among young women in Latin America. This study examined the relationship between reproductive factors and BC subtypes among 288 BC cases (20-45 years) and population-based matched controls in four Latin American countries. Immunohistochemistry wa...
Preprint
Full-text available
Background In Latin America (LA), there is a high incidence rate of breast cancer (BC) in premenopausal women, and the genomic features of these BC remain unknown. Here, we aim to characterize the molecular features of BC in young LA women within the framework of the PRECAMA study, a multicenter population-based case-control study on breast cancer...
Article
Pan-cancer analyses of tumor genomes reveal mutational signatures characteristic of particular etiologic factors. The signatures are extracted mathematically from mixed patterns typically observed by tumor sequencing. However, the components of signatures originating from complex carcinogen mixtures have not been studied in detail. Lung, head and n...
Conference Paper
Full-text available
Introduction The analysis of somatic mutational signatures in a single tumour can reveal clues on the natural history of this tumour, including past exposures to carcinogens. Characterising the mutational signatures of potential carcinogens used in industry may thus help identify cancers that are due to occupational exposure. Here, we used experime...
Conference Paper
Full-text available
Introduction In Latin America (LA), there is a high incidence rate of breast cancer (BC) in premenopausal women, and the genomic features of these BC remain unknown. Here, we have characterised the molecular features of BC in young LA women within the framework of the PRECAMA study, a multicenter population-based case-control study on breast cancer...
Article
Full-text available
Pulmonary large-cell neuroendocrine carcinomas (LCNECs) have similarities with other lung cancers, but their precise relationship has remained unclear. Here we perform a comprehensive genomic (n = 60) and transcriptomic (n = 69) analysis of 75 LCNECs and identify two molecular subgroups: "type I LCNECs" with bi-allelic TP53 and STK11/KEAP1 alterati...
Article
Full-text available
Clinical interpretation of germline missense variants represents a major challenge, including those in the TP53 Li‐Fraumeni syndrome gene. Bioinformatic prediction is a key part of variant classification strategies. We aimed to optimize the performance of the Align‐GVGD tool used for p53 missense variant prediction, and compare its performance to o...
Preprint
Full-text available
Acrylamide, a probable human carcinogen, is ubiquitously present in the human environment, with sources including heated starchy foods, coffee and cigarette smoke. Humans are also exposed to acrylamide occupationally. Acrylamide is genotoxic, inducing gene mutations and chromosomal aberrations in various experimental settings. Covalent haemoglobin...
Article
Full-text available
Aflatoxin B1 (AFB1) is a mutagen and IARC (International Agency for Research on Cancer) Group 1 carcinogen that causes hepatocellular carcinoma (HCC). Here, we present the first whole-genome data on the mutational signatures of AFB1 exposure from a total of >40,000 mutations in four experimental systems: two different human cell lines, in liver tum...
Article
Full-text available
The information on candidate cancer driver alterations available from public databases is often descriptive and of limited mechanistic insight, which poses difficulties for reliable distinction between true driver and passenger events. To address this challenge, we performed in-depth analysis of whole-exome sequencing data from cell lines generated...
Conference Paper
Aristolochic acid (AA) is a potent nephrotoxin and carcinogen (IARC Group 1) associated with urothelial, hepatobiliary, and renal carcinomas. Exposure to AA from dietary intake of traditional herbal medicines containing Aristolochia species poses a global health hazard, yet also an opportunity for disease prevention. Molecular epidemiology studies...
Article
Full-text available
A new human gammapapillomavirus (HPV_MTS2) genome was isolated and fully cloned from a skin swab. The L1 open reading frame of HPV_MTS2 was 79% and 80% identical to those of its closest relatives, HPV type 149 (species Gamma-7 of the genus Gammapapillomavirus ) and HPV isolate Dysk2 (GenBank accession no. KX781281), respectively, thus qualifying it...
Preprint
Full-text available
Aflatoxin B1 (AFB1) is a mutagen and IARC Group 1 carcinogen that causes hepatocellular carcinoma (HCC). Here we present the first whole genome data on the mutational signatures of AFB1 exposure from a total of > 40,000 mutations in four experimental systems: two different human cell lines, and in liver tumors in wild-type mice and in mice that car...
Article
Full-text available
Scientific Reports 4 : Article number: 4482; 10.1038/srep04482 published online: 27 March 2014 updated: 16 January 2017 . In this Article, an additional affiliation for Hana Huskova was omitted.
Article
BACKGROUND Cancer genomes harbor mutational spectra that document exposures to external factors and endogenous events underlying tumor development. Information on candidate cancer driver alterations is accessible from public compendia of somatic mutations, yet much of this knowledge remains descriptive and of limited mechanistic insight. Simple, ro...
Article
TP53 gene mutations are one of the most frequent somatic events in cancer. The IARC TP53 Database (http://p53.iarc.fr) is a popular resource that compiles occurrence and phenotype data on TP53 germline and somatic variations linked to human cancer. The deluge of data coming from cancer genomic studies generates new data on TP53 variations and attra...
Article
Full-text available
Circulating tumor DNA (ctDNA) is emerging as a key potential biomarker for post-diagnosis surveillance but it may also play a crucial role in the detection of pre-clinical cancer. Small-cell lung cancer (SCLC) is an excellent candidate for early detection given there are no successful therapeutic options for late-stage disease, and it displays almo...
Article
Full-text available
Background The nature of somatic mutations observed in human tumors at single gene or genome-wide levels can reveal information on past carcinogenic exposures and mutational processes contributing to tumor development. While large amounts of sequencing data are being generated, the associated analysis and interpretation of mutation patterns that ma...
Article
Plasma circulating cell-free (cf)DNA is of interest in oncology because it has been shown to contain tumour DNA and may thus be used as liquid biopsy. In nonsmall cell lung cancer (NSCLC), cfDNA quantification has been proposed for the monitoring and follow-up of patients. However, available studies are limited and need to be confirmed by studies w...
Article
Background: Dietary exposure to cytotoxic and carcinogenic aristolochic acid (AA) causes severe nephropathy typically associated with urologic cancers. Monitoring of AA exposure uses biomarkers such as aristolactam-DNA adducts, detected by mass spectrometry in the kidney cortex, or the somatic A>T transversion pattern characteristic of exposure to...
Article
Free circulating DNA (cfDNA) has been known for several decades. These small DNA fragments are released into the circulation from nucleated cells through necrosis, apoptosis and/or active secretion. These genomic fragments are mainly constitutional (nucleated blood cell DNA), but in patients with cancer, a fraction comes from tumor cells. Although...
Article
Full-text available
Triple negative breast cancer (TNBC), defined by the lack of expression of the estrogen receptor, progesterone receptor and human epidermal receptor 2, is an aggressive form of breast cancer that is more prevalent in certain populations, in particular in low- and middleincome regions. The detailed molecular features of TNBC in these regions remain...
Article
Dietary intake of Aristolochia plants containing aristolochic acid (AA, IARC Group 1 carcinogen), leads to renal disease and to recurrent urinary tract transitional cell carcinomas (TCC). Mutation screens identified frequent A>T transversions, alterations underrepresented in other cancer types, as the signature of AA exposure. AA-associated TCC is...
Article
Purpose: Tumor somatic mutation analysis is part of the standard management of metastatic lung cancer. However, physicians often have to deal with small biopsies and consequently with challenging mutation testing. Circulating free DNA (cfDNA) is a promising tool for accessing the tumor genome as a liquid biopsy. Here, we evaluated next-generation...
Book
This project follows on the success of the book "25 years of p53", published by Springer in 2006. Since this publication, there have been considerable advances on the potential application of p53 into the clinics. The goal of this book is to capture these developments and to appeal to a clinical and medical audience beyond the one which was the pri...
Article
Full-text available
Experimental models that recapitulate mutational landscapes of human cancers are needed to decipher the rapidly expanding data on human somatic mutations. We demonstrate that mutation patterns in immortalised cell lines derived from primary murine embryonic fibroblasts (MEFs) exposed in vitro to carcinogens recapitulate key features of mutational s...