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The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer.

التفاصيل البيبلوغرافية
العنوان: The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer.
بيانات النشر: Nature Research United Kingdom 2019-11-09
تفاصيل مُضافة: Boutry-Kryza N.
Rantala J.
Rashid M.U.
Rau-Murthy R.
Rennert G.
Lejbkowicz F.
Rhenius V.
Romero A.
Rookus M.A.
Ross E.A.
Rossing M.
Rudaitis V.
Ruebner M.
Saloustros E.
Sanden K.
Santamarina M.
Scheuner M.T.
Schmutzler R.K.
Schneider M.
Scott C.
Senter L.
Shah M.
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Shu X.-O.
Simard J.
Singer C.F.
Sohn C.
Soucy P.
Southey M.C.
Spinelli J.J.
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Stoppa-Lyonnet D.
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Thompson J.
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Tischkowitz M.
Tollenaar R.A.E.M.
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van Veen E.M.
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Viel A.
Wappenschmidt B.
Weitzel J.N.
Wendt C.
Wieme G.
Wolk A.
Yang X.R.
Zheng W.
Ziogas A.
Zorn K.K.
Dunning A.M.
Lush M.
Wang Q.
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Parsons M.T.
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Toland A.E.
Andrulis I.L.
Ramus S.J.
Swerdlow A.J.
Greene M.H.
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Milne R.L.
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نوع الوثيقة: Electronic Resource
مستخلص: Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk. FANCM, which encodes for a DNA translocase, has been proposed as a breast cancer predisposition gene, with greater effects for the ER-negative and triple-negative breast cancer (TNBC) subtypes. We tested the three recurrent protein-truncating variants FANCM:p.Arg658*, p.Gln1701*, and p.Arg1931* for association with breast cancer risk in 67,112 cases, 53,766 controls, and 26,662 carriers of pathogenic variants of BRCA1 or BRCA2. These three variants were also studied functionally by measuring survival and chromosome fragility in FANCM-/- patient-derived immortalized fibroblasts treated with diepoxybutane or olaparib. We observed that FANCM:p.Arg658* was associated with increased risk of ER-negative disease and TNBC (OR = 2.44, P = 0.034 and OR = 3.79; P = 0.009, respectively). In a country-restricted analysis, we confirmed the associations detected for FANCM:p.Arg658* and found that also FANCM:p.Arg1931* was associated with ER-negative breast cancer risk (OR = 1.96; P = 0.006). The functional results indicated that all three variants were deleterious affecting cell survival and chromosome stability with FANCM:p.Arg658* causing more severe phenotypes. In conclusion, we confirmed that the two rare FANCM deleterious variants p.Arg658* and p.Arg1931* are risk factors for ER-negative and TNBC subtypes. Overall our data suggest that the effect of truncating variants on breast cancer risk may depend on their position in the gene. Cell sensitivity to olaparib exposure, identifies a possible therapeutic option to treat FANCM-associated tumors.Copyright © 2019, The Author(s).
مصطلحات الفهرس: mRNA expression level, phenotype, priority journal, risk factor, sensitivity analysis, survival rate, Western blotting, arginine, ATM protein/ec [Endogenous Compound], BRCA1 protein/ec [Endogenous Compound], BRCA2 protein/ec [Endogenous Compound], butadiene diepoxide, checkpoint kinase 2/ec [Endogenous Compound], olaparib, partner and localizer of BRCA2/ec [Endogenous Compound], unclassified drug, ATM protein gene, BRCA1 protein gene, BRCA2 protein gene, checkpoint kinase 2 gene, FANCM gene, partner and localizer of BRCA2 gene, arginine 658, triple negative breast cancer, chromosomal instability, chromosome fragility, controlled study, female, gene, gene expression, gene mutation, genotype, human, informed consent, major clinical study, article, cell survival, Article
URL: https://repository.monashhealth.org/monashhealthjspui/handle/1/27300Test
LibKey Link
الإتاحة: Open access content. Open access content
Copyright 2021 Elsevier B.V., All rights reserved.
Copyright 2020 Elsevier B.V., All rights reserved.
أرقام أخرى: AUSHL oai:repository.monashhealth.org:1/27300
npj Breast Cancer. 5 (1) (no pagination), 2019. Article Number: 38. Date of Publication: 01 Dec 2019.
2374-4677 (electronic)
https://repository.monashhealth.org/monashhealthjspui/handle/1/27300Test
2003504052
(Figlioli, Catucci, Peterlongo) IFOM - the FIRC Institute for Molecular Oncology, Genome Diagnostics Program, Milan, Italy (Bogliolo, Lasheras, Pujol, Surralles) Department of Genetics and Microbiology, Universitat Autonoma de Barcelona, Bellaterra, Barcelona, Spain (Bogliolo, Pujol, Surralles) Center for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain (Bogliolo, Pujol, Surralles) Institute of Biomedical Research, Sant Pau Hospital, Barcelona, Spain (Caleca, Radice) Fondazione IRCCS Istituto Nazionale dei Tumori, Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Milan, Italy (Kiiski, Muranen, Nevanlinna) University of Helsinki, Department of Obstetrics and Gynecology, Helsinki University Hospital, Helsinki, Finland (Barnes, Dennis, Michailidou, Bolla, Leslie, Barrowdale, Lush, Wang, McGuffog, Pharoah, Easton, Antoniou) University of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Cambridge, United Kingdom (Michailidou) The Cyprus Institute of Neurology & Genetics, Department of Electron Microscopy/Molecular Pathology and The Cyprus School of Molecular Medicine, Nicosia, Cyprus (Aalfs) Amsterdam UMC, lokatie AMC, Department of Clinical Genetics, Amsterdam, Netherlands (Adank) The Netherlands Cancer Institute - Antoni van Leeuwenhoek hospital, Family Cancer Clinic, Amsterdam, Netherlands (Adlard) Chapel Allerton Hospital, Yorkshire Regional Genetics Service, Leeds, United Kingdom (Agata, Montagna) Veneto Institute of Oncology IOV - IRCCS, Immunology and Molecular Oncology Unit, Padua, Italy (Cadoo) Memorial Sloan-Kettering Cancer Center, Department of Medicine, New York, NY, United States (Agnarsson, Barkardottir) Landspitali University Hospital, Department of Pathology, Reykjavik, Iceland (Agnarsson) University of Iceland, School of Medicine, Reykjavik, Iceland (Ahearn, Beane Freeman, Chanock, Figueroa, Garcia-Closas, Koutros, Yang) National Cancer Institute, Nat
Peterlongo P.; paolo.peterlongo@ifom.eu
1305124626
المصدر المساهم: MONASH HEALTH LIBRS
From OAIster®, provided by the OCLC Cooperative.
رقم الانضمام: edsoai.on1305124626
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