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Article: The PI3K/mTOR Pathway Is Targeted by Rare Germline Variants in Patients with Both Melanoma and Renal Cell Carcinoma.

Hubert, Jean-Noël / Suybeng, Voreak / Vallée, Maxime / Delhomme, Tiffany M / Maubec, Eve / Boland, Anne / Bacq, Delphine / Deleuze, Jean-François / Jouenne, Fanélie / Brennan, Paul / McKay, James D / Avril, Marie-Françoise / Bressac-de Paillerets, Brigitte / Chanudet, Estelle

Cancers

2021 Volume 13, Issue 9

Abstract: ... ...

Abstract	Background
Language	English
Publishing date	2021-05-07
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2527080-1
ISSN	2072-6694
ISSN	2072-6694
DOI	10.3390/cancers13092243
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Article ; Online: Circadian genes and risk of prostate cancer: Findings from the EPICAP study.

Wendeu-Foyet, Méyomo G / Koudou, Yves / Cénée, Sylvie / Trétarre, Brigitte / Rébillard, Xavier / Cancel-Tassin, Géraldine / Cussenot, Olivier / Boland, Anne / Bacq, Delphine / Deleuze, Jean-François / Lamy, Pierre-Jean / Mulot, Claire / Laurent-Puig, Pierre / Truong, Thérèse / Menegaux, Florence

International journal of cancer

2019 Volume 145, Issue 7, Page(s) 1745–1753

Abstract: Circadian rhythms regulate several physiological functions and genes controlling the circadian rhythm were found to regulate cell proliferation, cell cycle and apoptosis. Few studies have investigated the role of those circadian genes in prostate cancer ... ...

Abstract	Circadian rhythms regulate several physiological functions and genes controlling the circadian rhythm were found to regulate cell proliferation, cell cycle and apoptosis. Few studies have investigated the role of those circadian genes in prostate cancer occurrence. We aim to investigate the relationship between circadian genes polymorphisms and prostate cancer risk based on data from the EPICAP study, a population-based case-control study including 1,515 men (732 cases / 783 controls) with genotyped data. Odds Ratios (ORs) for association between prostate cancer and circadian gene variants were estimated for each of the 872 single nucleotide polymorphisms (SNPs) in 31 circadian clock genes. We also used a gene-based and pathway-based approach with a focus on the pathway including 9 core circadian genes. Separate analyses were conducted by prostate cancer aggressiveness. The core-circadian pathway (p = 0.0006) was significantly associated to prostate cancer, for either low (p = 0.002) or high (p = 0.01) grade tumor. At the gene level, we observed significant associations between all prostate cancer and NPAS2 and PER1 after correcting for multiple testing, while only RORA was significant for aggressive tumors. At the SNP-level, no significant association was observed. Our findings provide additional evidence of a potential link between genetic variants in circadian genes and prostate cancer risk. Further investigation is warranted to confirm these findings and to better understand the biological pathways involved.
MeSH term(s)	Adult ; Aged ; Basic Helix-Loop-Helix Transcription Factors/genetics ; Case-Control Studies ; Circadian Clocks ; Gene Regulatory Networks ; Genetic Association Studies ; Genetic Predisposition to Disease ; Humans ; Male ; Middle Aged ; Neoplasm Grading ; Nerve Tissue Proteins/genetics ; Nuclear Receptor Subfamily 1, Group F, Member 1/genetics ; Odds Ratio ; Period Circadian Proteins/genetics ; Prostatic Neoplasms/genetics ; Prostatic Neoplasms/pathology
Chemical Substances	Basic Helix-Loop-Helix Transcription Factors ; NPAS2 protein, human ; Nerve Tissue Proteins ; Nuclear Receptor Subfamily 1, Group F, Member 1 ; PER1 protein, human ; Period Circadian Proteins ; RORA protein, human
Language	English
Publishing date	2019-02-12
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	218257-9
ISSN	1097-0215 ; 0020-7136
ISSN (online)	1097-0215
ISSN	0020-7136
DOI	10.1002/ijc.32149
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Article ; Online: Mutational signatures reveal the dynamic interplay of risk factors and cellular processes during liver tumorigenesis.

Letouzé, Eric / Shinde, Jayendra / Renault, Victor / Couchy, Gabrielle / Blanc, Jean-Frédéric / Tubacher, Emmanuel / Bayard, Quentin / Bacq, Delphine / Meyer, Vincent / Semhoun, Jérémy / Bioulac-Sage, Paulette / Prévôt, Sophie / Azoulay, Daniel / Paradis, Valérie / Imbeaud, Sandrine / Deleuze, Jean-François / Zucman-Rossi, Jessica

Nature communications

2017 Volume 8, Issue 1, Page(s) 1315

Abstract: Genomic alterations driving tumorigenesis result from the interaction of environmental exposures and endogenous cellular processes. With a diversity of risk factors, liver cancer is an ideal model to study these interactions. Here, we analyze the whole ... ...

Abstract	Genomic alterations driving tumorigenesis result from the interaction of environmental exposures and endogenous cellular processes. With a diversity of risk factors, liver cancer is an ideal model to study these interactions. Here, we analyze the whole genomes of 44 new and 264 published liver cancers and we identify 10 mutational and 6 structural rearrangement signatures showing distinct relationships with environmental exposures, replication, transcription, and driver genes. The liver cancer-specific signature 16, associated with alcohol, displays a unique feature of transcription-coupled damage and is the main source of CTNNB1 mutations. Flood of insertions/deletions (indels) are identified in very highly expressed hepato-specific genes, likely resulting from replication-transcription collisions. Reconstruction of sub-clonal architecture reveals mutational signature evolution during tumor development exemplified by the vanishing of aflatoxin B1 signature in African migrants. Finally, chromosome duplications occur late and may represent rate-limiting events in tumorigenesis. These findings shed new light on the natural history of liver cancers.
MeSH term(s)	Carcinogenesis/genetics ; Carcinoma, Hepatocellular/etiology ; Carcinoma, Hepatocellular/genetics ; Chromosome Duplication ; DNA Mutational Analysis ; DNA Replication ; Evolution, Molecular ; Female ; Gene Dosage ; Gene Rearrangement ; Genome, Human ; Humans ; INDEL Mutation ; Liver Neoplasms/etiology ; Liver Neoplasms/genetics ; Male ; Mutation ; Risk Factors ; Transcription, Genetic ; Whole Genome Sequencing
Language	English
Publishing date	2017-11-03
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ISSN	2041-1723
ISSN (online)	2041-1723
DOI	10.1038/s41467-017-01358-x
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Article ; Online: dUTPase (

Dos Santos, Reinaldo Sousa / Daures, Mathilde / Philippi, Anne / Romero, Sophie / Marselli, Lorella / Marchetti, Piero / Senée, Valérie / Bacq, Delphine / Besse, Céline / Baz, Baz / Marroquí, Laura / Ivanoff, Sarah / Masliah-Planchon, Julien / Nicolino, Marc / Soulier, Jean / Socié, Gérard / Eizirik, Decio L / Gautier, Jean-François / Julier, Cécile

Diabetes

2017 Volume 66, Issue 4, Page(s) 1086–1096

Abstract: We describe a new syndrome characterized by early-onset diabetes associated with bone marrow failure, affecting mostly the erythrocytic lineage. Using whole-exome sequencing in a remotely consanguineous patient from a family with two affected siblings, ... ...

Abstract	We describe a new syndrome characterized by early-onset diabetes associated with bone marrow failure, affecting mostly the erythrocytic lineage. Using whole-exome sequencing in a remotely consanguineous patient from a family with two affected siblings, we identified a single homozygous missense mutation (chr15.hg19:g.48,626,619A>G) located in the dUTPase (
MeSH term(s)	Adolescent ; Adult ; Aged ; Anemia, Aplastic/genetics ; Animals ; Apoptosis/genetics ; Blotting, Western ; Bone Marrow Diseases/genetics ; Child ; Consanguinity ; Crystallography, X-Ray ; Diabetes Mellitus/genetics ; Female ; Hemoglobinuria, Paroxysmal/genetics ; Humans ; Islets of Langerhans/metabolism ; Male ; Middle Aged ; Molecular Structure ; Mutation ; Pyrophosphatases/genetics ; RNA, Messenger/metabolism ; RNA, Small Interfering ; Rats ; Rats, Wistar ; Sequence Analysis, DNA ; Syndrome ; Young Adult
Chemical Substances	RNA, Messenger ; RNA, Small Interfering ; Pyrophosphatases (EC 3.6.1.-) ; dUTP pyrophosphatase (EC 3.6.1.23)
Language	English
Publishing date	2017-04
Publishing country	United States
Document type	Journal Article
ZDB-ID	80085-5
ISSN	1939-327X ; 0012-1797
ISSN (online)	1939-327X
ISSN	0012-1797
DOI	10.2337/db16-0839
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Article ; Online: Feasibility of high-throughput sequencing in clinical routine cancer care: lessons from the cancer pilot project of the France Genomic Medicine 2025 plan.

Auzanneau, Céline / Bacq, Delphine / Bellera, Carine / Blons, Hélène / Boland, Anne / Boucheix, Marlène / Bourdon, Aurélien / Chollet, Emmanuelle / Chomienne, Christine / Deleuze, Jean-François / Delmas, Christelle / Dinart, Derek / Espérou, Hélène / Geillon, Flore / Geneste, Damien / Italiano, Antoine / Jean, Delphine / Khalifa, Emmanuel / Laizet, Yec'han /

Laurent-Puig, Pierre / Lethimonnier, Franck / Lévy-Marchal, Claire / Lucchesi, Carlo / Malle, Carine / Mancini, Pierre / Mathoulin-Pélissier, Simone / Meyer, Vincent / Marie-Ange, Palomares / Perkins, Géraldine / Sellan-Albert, Sabrina / Soubeyran, Isabelle / Wallet, Cédric

ESMO open

2020 Volume 5, Issue 4

Abstract: Background: Whole exome sequencing and RNA sequencing (WES/RNASeq) should now be implemented in the clinical practice in order to increase access to optimal care for cancer patients. Providing results to Tumour Boards in a relevant time frame-that is, ... ...

Abstract	Background: Whole exome sequencing and RNA sequencing (WES/RNASeq) should now be implemented in the clinical practice in order to increase access to optimal care for cancer patients. Providing results to Tumour Boards in a relevant time frame-that is, compatible with the clinical pathway-is crucial. Assessing the feasibility of this implementation in the French care system is the primary objective of the Multipli study, as one of the four pilot projects of the national France Genomic Medicine 2025 (FGM 2025) plan. The Multipli study encompasses two innovative trials which will be driven in around 2400 patients suffering from a soft-tissue sarcoma (Multisarc) or a metastatic colorectal carcinoma (Acompli). Methods: Prior to launching the FGM 2025 cancer pilot study itself, the performance of the Multipli genomic workflow has been evaluated through each step, from the samples collection to the Molecular Tumour Board (MTB) report. Two Multipli-assigned INCa-labelled molecular genetics centres, the CEA-CNRGH sequencing platform and the Institut Bergonié's Bioinformatics Platform were involved in a multicentric study. The duration of each step of the genomic workflow was monitored and bottlenecks were identified. Results: Thirty barriers which could affect the quality of the samples, sequencing results and the duration of each step of the genomic pathway were identified and mastered. The global turnaround time from the sample reception to the MTB report was of 44 calendar days. Conclusion: Our results demonstrate the feasibility of tumour genomic analysis by WES/RNASeq within a time frame compatible with the current cancer patient care. Lessons learnt from the Multipli WES/RNASeq Platforms Workflow Study will constitute guidelines for the forthcoming Multipli study and more broadly for the future clinical routine practice in the first two France Genomic Medicine 2025 platforms.
MeSH term(s)	Feasibility Studies ; France ; Genomics ; High-Throughput Nucleotide Sequencing ; Humans ; Neoplasms ; Pilot Projects
Language	English
Publishing date	2020-07-20
Publishing country	England
Document type	Journal Article ; Multicenter Study ; Research Support, Non-U.S. Gov't
ISSN	2059-7029
ISSN (online)	2059-7029
DOI	10.1136/esmoopen-2020-000744
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Article ; Online: Cyclin A2/E1 activation defines a hepatocellular carcinoma subclass with a rearrangement signature of replication stress.

Nature communications

2018 Volume 9, Issue 1, Page(s) 5235

Abstract: Cyclins A2 and E1 regulate the cell cycle by promoting S phase entry and progression. Here, we identify a hepatocellular carcinoma (HCC) subgroup exhibiting cyclin activation through various mechanisms including hepatitis B virus (HBV) and adeno- ... ...

Abstract	Cyclins A2 and E1 regulate the cell cycle by promoting S phase entry and progression. Here, we identify a hepatocellular carcinoma (HCC) subgroup exhibiting cyclin activation through various mechanisms including hepatitis B virus (HBV) and adeno-associated virus type 2 (AAV2) insertions, enhancer hijacking and recurrent CCNA2 fusions. Cyclin A2 or E1 alterations define a homogenous entity of aggressive HCC, mostly developed in non-cirrhotic patients, characterized by a transcriptional activation of E2F and ATR pathways and a high frequency of RB1 and PTEN inactivation. Cyclin-driven HCC display a unique signature of structural rearrangements with hundreds of tandem duplications and templated insertions frequently activating TERT promoter. These rearrangements, strongly enriched in early-replicated active chromatin regions, are consistent with a break-induced replication mechanism. Pan-cancer analysis reveals a similar signature in BRCA1-mutated breast and ovarian cancers. Together, this analysis reveals a new poor prognosis HCC entity and a rearrangement signature related to replication stress.
MeSH term(s)	Adult ; Aged ; Aged, 80 and over ; Carcinoma, Hepatocellular/genetics ; Carcinoma, Hepatocellular/metabolism ; Carcinoma, Hepatocellular/pathology ; Cyclin A2/genetics ; Cyclin A2/metabolism ; Cyclin E/genetics ; Cyclin E/metabolism ; Female ; Gene Expression Regulation, Neoplastic ; Gene Rearrangement ; Hepatitis B virus/genetics ; Humans ; Liver Neoplasms/genetics ; Liver Neoplasms/metabolism ; Male ; Middle Aged ; Mutagenesis, Insertional ; Oncogene Proteins/genetics ; Oncogene Proteins/metabolism ; Parvovirinae/genetics ; Promoter Regions, Genetic/genetics ; Survival Analysis
Chemical Substances	CCNE1 protein, human ; Cyclin A2 ; Cyclin E ; Oncogene Proteins
Language	English
Publishing date	2018-12-07
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2553671-0
ISSN	2041-1723 ; 2041-1723
ISSN (online)	2041-1723
ISSN	2041-1723
DOI	10.1038/s41467-018-07552-9
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Article ; Online: GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia.

Coutelier, Marie / Burglen, Lydie / Mundwiller, Emeline / Abada-Bendib, Myriam / Rodriguez, Diana / Chantot-Bastaraud, Sandra / Rougeot, Christelle / Cournelle, Marie-Anne / Milh, Mathieu / Toutain, Annick / Bacq, Delphine / Meyer, Vincent / Afenjar, Alexandra / Deleuze, Jean-François / Brice, Alexis / Héron, Delphine / Stevanin, Giovanni / Durr, Alexandra

Neurology

2015 Volume 84, Issue 17, Page(s) 1751–1759

Abstract: Objectives: In a large family of Algerian origin, we aimed to identify the genetic mutation segregating with simultaneous presence of adult-onset, paucisymptomatic, slowly progressive, cerebellar ataxia in 7 adults and congenital ataxia in 1 child, and ... ...

Abstract	Objectives: In a large family of Algerian origin, we aimed to identify the genetic mutation segregating with simultaneous presence of adult-onset, paucisymptomatic, slowly progressive, cerebellar ataxia in 7 adults and congenital ataxia in 1 child, and then to assess the involvement of GRID2 mutations in 144 patients with congenital cerebellar ataxia. Methods: We used a combined approach of linkage analysis and whole-exome sequencing in one family, and a targeted gene panel sequencing approach in 144 congenital ataxias. Results: In the large family with spinocerebellar ataxia, we identified a missense mutation (c.1966C>G/p.Leu656Val) in the GRID2 gene, in a heterozygous state in adults, and in a homozygous state in one child with congenital ataxia, compatible with a semidominant transmission pattern. In 144 patients affected with congenital ataxia, we identified 2 missense de novo GRID2 mutations in 2 children (c.1960G>A/p.Ala654Thr, c.1961C>A/p.Ala654Asp). They affect the same amino acid as the previously described Lurcher mutation in mice; the variant in the large family concerns a nearby amino acid. Conclusions: In humans, GRID2 had only been involved in ataxia through complete loss-of-function mutations due to exon deletions. We report the first point mutations in this gene, with putative gain-of-function mechanisms, and a semidominant transmission as was observed in the Lurcher mice model. Of note, cerebellar ataxia is the core phenotype, but with variable severity ranging from very mild adult-onset to congenital-onset ataxias linked to both the heterozygous and homozygous state of the variant, and the position of the mutation.
MeSH term(s)	Adolescent ; Adult ; Aged ; Algeria ; Cerebellar Ataxia/congenital ; Cerebellar Ataxia/genetics ; Child ; Child, Preschool ; Exome ; Female ; Genetic Linkage ; Humans ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Pedigree ; Point Mutation/genetics ; Receptors, Glutamate/genetics ; Sequence Analysis, DNA
Chemical Substances	Receptors, Glutamate ; glutamate receptor delta 2
Language	English
Publishing date	2015-04-28
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	207147-2
ISSN	1526-632X ; 0028-3878
ISSN (online)	1526-632X
ISSN	0028-3878
DOI	10.1212/WNL.0000000000001524
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Article ; Online: Cross-Ancestry Investigation of Venous Thromboembolism Genomic Predictors.

Thibord, Florian / Klarin, Derek / Brody, Jennifer A / Chen, Ming-Huei / Levin, Michael G / Chasman, Daniel I / Goode, Ellen L / Hveem, Kristian / Teder-Laving, Maris / Martinez-Perez, Angel / Aïssi, Dylan / Daian-Bacq, Delphine / Ito, Kaoru / Natarajan, Pradeep / Lutsey, Pamela L / Nadkarni, Girish N / de Vries, Paul S / Cuellar-Partida, Gabriel / Wolford, Brooke N /

Pattee, Jack W / Kooperberg, Charles / Braekkan, Sigrid K / Li-Gao, Ruifang / Saut, Noemie / Sept, Corriene / Germain, Marine / Judy, Renae L / Wiggins, Kerri L / Ko, Darae / O'Donnell, Christopher J / Taylor, Kent D / Giulianini, Franco / De Andrade, Mariza / Nøst, Therese H / Boland, Anne / Empana, Jean-Philippe / Koyama, Satoshi / Gilliland, Thomas / Do, Ron / Huffman, Jennifer E / Wang, Xin / Zhou, Wei / Manuel Soria, Jose / Carlos Souto, Juan / Pankratz, Nathan / Haessler, Jeffery / Hindberg, Kristian / Rosendaal, Frits R / Turman, Constance / Olaso, Robert / Kember, Rachel L / Bartz, Traci M / Lynch, Julie A / Heckbert, Susan R / Armasu, Sebastian M / Brumpton, Ben / Smadja, David M / Jouven, Xavier / Komuro, Issei / Clapham, Katharine R / Loos, Ruth J F / Willer, Cristen J / Sabater-Lleal, Maria / Pankow, James S / Reiner, Alexander P / Morelli, Vania M / Ridker, Paul M / Vlieg, Astrid van Hylckama / Deleuze, Jean-François / Kraft, Peter / Rader, Daniel J / Min Lee, Kyung / Psaty, Bruce M / Heidi Skogholt, Anne / Emmerich, Joseph / Suchon, Pierre / Rich, Stephen S / Vy, Ha My T / Tang, Weihong / Jackson, Rebecca D / Hansen, John-Bjarne / Morange, Pierre-Emmanuel / Kabrhel, Christopher / Trégouët, David-Alexandre / Damrauer, Scott M / Johnson, Andrew D / Smith, Nicholas L

Circulation

2022 Volume 146, Issue 16, Page(s) 1225–1242

Abstract: Background: Venous thromboembolism (VTE) is a life-threatening vascular event with environmental and genetic determinants. Recent VTE genome-wide association studies (GWAS) meta-analyses involved nearly 30 000 VTE cases and identified up to 40 genetic ... ...

Abstract	Background: Venous thromboembolism (VTE) is a life-threatening vascular event with environmental and genetic determinants. Recent VTE genome-wide association studies (GWAS) meta-analyses involved nearly 30 000 VTE cases and identified up to 40 genetic loci associated with VTE risk, including loci not previously suspected to play a role in hemostasis. The aim of our research was to expand discovery of new genetic loci associated with VTE by using cross-ancestry genomic resources. Methods: We present new cross-ancestry meta-analyzed GWAS results involving up to 81 669 VTE cases from 30 studies, with replication of novel loci in independent populations and loci characterization through in silico genomic interrogations. Results: In our genetic discovery effort that included 55 330 participants with VTE (47 822 European, 6320 African, and 1188 Hispanic ancestry), we identified 48 novel associations, of which 34 were replicated after correction for multiple testing. In our combined discovery-replication analysis (81 669 VTE participants) and ancestry-stratified meta-analyses (European, African, and Hispanic), we identified another 44 novel associations, which are new candidate VTE-associated loci requiring replication. In total, across all GWAS meta-analyses, we identified 135 independent genomic loci significantly associated with VTE risk. A genetic risk score of the significantly associated loci in Europeans identified a 6-fold increase in risk for those in the top 1% of scores compared with those with average scores. We also identified 31 novel transcript associations in transcriptome-wide association studies and 8 novel candidate genes with protein quantitative-trait locus Mendelian randomization analyses. In silico interrogations of hemostasis and hematology traits and a large phenome-wide association analysis of the 135 GWAS loci provided insights to biological pathways contributing to VTE, with some loci contributing to VTE through well-characterized coagulation pathways and others providing new data on the role of hematology traits, particularly platelet function. Many of the replicated loci are outside of known or currently hypothesized pathways to thrombosis. Conclusions: Our cross-ancestry GWAS meta-analyses identified new loci associated with VTE. These findings highlight new pathways to thrombosis and provide novel molecules that may be useful in the development of improved antithrombosis treatments.
MeSH term(s)	Genetic Predisposition to Disease ; Genome-Wide Association Study ; Genomics ; Humans ; Polymorphism, Single Nucleotide ; Quantitative Trait Loci ; Thrombosis/genetics ; Venous Thromboembolism/diagnosis ; Venous Thromboembolism/genetics
Language	English
Publishing date	2022-09-26
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, U.S. Gov't, Non-P.H.S. ; Research Support, Non-U.S. Gov't
ZDB-ID	80099-5
ISSN	1524-4539 ; 0009-7322 ; 0069-4193 ; 0065-8499
ISSN (online)	1524-4539
ISSN	0009-7322 ; 0069-4193 ; 0065-8499
DOI	10.1161/CIRCULATIONAHA.122.059675
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Article ; Online: GWAS in the SIGNAL/PHARE clinical cohort restricts the association between the FGFR2 locus and estrogen receptor status to HER2-negative breast cancer patients.

Cox, David G / Curtit, Elsa / Romieu, Gilles / Fumoleau, Pierre / Rios, Maria / Bonnefoi, Hervé / Bachelot, Thomas / Soulié, Patrick / Jouannaud, Christelle / Bourgeois, Hugues / Petit, Thierry / Tennevet, Isabelle / Assouline, David / Mathieu, Marie-Christine / Jacquin, Jean-Philippe / Lavau-Denes, Sandrine / Darut-Jouve, Ariane / Ferrero, Jean-Marc / Tarpin, Carole /

Lévy, Christelle / Delecroix, Valérie / Trillet-Lenoir, Véronique / Cojocarasu, Oana / Meunier, Jérôme / Pierga, Jean-Yves / Faure-Mercier, Céline / Blanché, Hélène / Sahbatou, Mourad / Boland, Anne / Bacq, Delphine / Besse, Céline / Deleuze, Jean-François / Pauporté, Iris / Thomas, Gilles / Pivot, Xavier

Oncotarget

2016 Volume 7, Issue 47, Page(s) 77358–77364

Abstract: Genetic polymorphisms are associated with breast cancer risk. Clinical and epidemiological observations suggest that clinical characteristics of breast cancer, such as estrogen receptor or HER2 status, are also influenced by hereditary factors. To ... ...

Abstract	Genetic polymorphisms are associated with breast cancer risk. Clinical and epidemiological observations suggest that clinical characteristics of breast cancer, such as estrogen receptor or HER2 status, are also influenced by hereditary factors. To identify genetic variants associated with pathological characteristics of breast cancer patients, a Genome Wide Association Study was performed in a cohort of 9365 women from the French nationwide SIGNAL/PHARE studies (NCT00381901/RECF1098). Strong association between the FGFR2 locus and ER status of breast cancer patients was observed (ER-positive n=6211, ER-negative n=2516; rs3135718 OR=1.34 p=5.46×10-12). This association was limited to patients with HER2-negative tumors (ER-positive n=4267, ER-negative n=1185; rs3135724 OR=1.85 p=1.16×10-11). The FGFR2 locus is known to be associated with breast cancer risk. This study provides sound evidence for an association between variants in the FGFR2 locus and ER status among breast cancer patients, particularly among patients with HER2-negative disease. This refinement of the association between FGFR2 variants and ER-status to HER2-negative disease provides novel insight to potential biological and clinical influence of genetic polymorphisms on breast tumors.
Language	English
Publishing date	2016-11-22
Publishing country	United States
Document type	Journal Article
ZDB-ID	2560162-3
ISSN	1949-2553 ; 1949-2553
ISSN (online)	1949-2553
ISSN	1949-2553
DOI	10.18632/oncotarget.12669
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Article ; Online: ABCA7 rare variants and Alzheimer disease risk.

Le Guennec, Kilan / Nicolas, Gaël / Quenez, Olivier / Charbonnier, Camille / Wallon, David / Bellenguez, Céline / Grenier-Boley, Benjamin / Rousseau, Stéphane / Richard, Anne-Claire / Rovelet-Lecrux, Anne / Bacq, Delphine / Garnier, Jean-Guillaume / Olaso, Robert / Boland, Anne / Meyer, Vincent / Deleuze, Jean-François / Amouyel, Philippe / Munter, Hans Markus / Bourque, Guillaume /

Lathrop, Mark / Frebourg, Thierry / Redon, Richard / Letenneur, Luc / Dartigues, Jean-François / Pasquier, Florence / Rollin-Sillaire, Adeline / Génin, Emmanuelle / Lambert, Jean-Charles / Hannequin, Didier / Campion, Dominique

Neurology

2016 Volume 86, Issue 23, Page(s) 2134–2137

Abstract: Objective: To study the association between ABCA7 rare coding variants and Alzheimer disease (AD) in a case-control setting.: Methods: We conducted a whole exome analysis among 484 French patients with early-onset AD and 590 ethnically matched ... ...

Abstract	Objective: To study the association between ABCA7 rare coding variants and Alzheimer disease (AD) in a case-control setting. Methods: We conducted a whole exome analysis among 484 French patients with early-onset AD and 590 ethnically matched controls. Results: After collapsing rare variants (minor allele frequency ≤1%), we detected an enrichment of ABCA7 loss of function (LOF) and predicted damaging missense variants in cases (odds ratio [OR] 3.40, 95% confidence interval [CI] 1.68-7.35, p = 0.0002). Performing a meta-analysis with previously published data, we found that in a combined sample of 1,256 patients and 1,347 controls from France and Belgium, the OR was 2.81 (95% CI 1.89-4.20, p = 3.60 × 10(-7)). Conclusions: These results confirm that ABCA7 LOF variants are enriched in patients with AD and extend this finding to predicted damaging missense variants.
MeSH term(s)	ATP-Binding Cassette Transporters/genetics ; Aged ; Alzheimer Disease/genetics ; Belgium ; Case-Control Studies ; Exome ; France ; Gene Frequency ; Genetic Association Studies ; Genetic Predisposition to Disease ; Humans ; Mutation
Chemical Substances	ABCA7 protein, human
Language	English
Publishing date	2016-06-07
Publishing country	United States
Document type	Journal Article ; Meta-Analysis
ZDB-ID	207147-2
ISSN	1526-632X ; 0028-3878
ISSN (online)	1526-632X
ISSN	0028-3878
DOI	10.1212/WNL.0000000000002627
Database	MEDical Literature Analysis and Retrieval System OnLINE

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