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

dc.contributorPontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética Humana
dc.contributorTorres-López, Diana María
dc.creatorFiglioli, Gisella
dc.creatorBogliolo, Massimo
dc.creatorCatucci, Irene
dc.creatorCaleca, Laura
dc.creatorViz Lasheras, Sandra
dc.creatorCaleca, Roser
dc.creatorKiiski, Johanna
dc.creatorMuranen, Taru
dc.creatorBarnes, Daniel
dc.creatorDennis, Joe
dc.creatorMichailidou, Kyriaki
dc.creatorBolla, Manjeet
dc.creatorLeslie, Goska
dc.creatorAalfs, Cora
dc.creatorABCTB Investigators
dc.creatorAdank, Muriel
dc.creatorAdlard, Julian
dc.creatorAgata, Simona
dc.creatorCadoo, Karen
dc.creatorAgnarsson, Bjarni
dc.creatorAhearn, Thomas
dc.creatorAittomäki, Kristiina
dc.creatorAmbrosone, Christine
dc.creatorAndrews, Lesley
dc.creatorCulver, Hoda Anton
dc.creatorAntonenkova, Natalia
dc.creatorArndt, Volker
dc.creatorAronson, Kristan
dc.creatorArun, Banu
dc.creatorAsseryanis, Ella
dc.creatorAuber, Bernd
dc.creatorAuvinen, Päivi
dc.creatorAzzollini, Jacopo
dc.creatorBalmaña, Judith
dc.creatorBarkardottir, Rosa
dc.creatorBarrowdale, Daniel
dc.creatorBarwell, Julian
dc.creatorBeane Freeman, Laura
dc.creatorBeauparlant, Charles
dc.creatorBeckmann, Matthias
dc.creatorBehrens, Sabine
dc.creatorBenitez, Javier
dc.creatorBerger, Raanan
dc.creatorBermisheva, Marina
dc.creatorBlanco, Amie
dc.creatorBlomqvist, Carl
dc.creatorBogdanova, Natalia
dc.creatorBojesen, Anders
dc.creatorBojesen, Stig
dc.creatorBonanni, Bernardo
dc.creatorBorg, Ake
dc.creatorBrady, Angela
dc.creatorBrauch, Hiltrud
dc.creatorBrenner, Hermann
dc.creatorBrüning, Thomas
dc.creatorBurwinkel, Barbara
dc.creatorBuys, Saundra
dc.creatorCaldés, Trinidad
dc.creatorCaliebe, Almuth
dc.creatorCaligo, Maria
dc.creatorCampa, Daniele
dc.creatorCampbell, Ian
dc.creatorCanzian, Federico
dc.creatorCastelao, Jose
dc.creatorClaude, Jenny
dc.creatorChanock, Stephen
dc.creatorClaes, Kathleen
dc.creatorClarke, Christine
dc.creatorCollavoli, Anita
dc.creatorConner, Thomas
dc.creatorCox, David
dc.creatorCybulski, Cezary
dc.creatorCzene, Kamila
dc.creatorDaly, Mary
dc.creatorde la Hoya, Miguel
dc.creatorDevilee, Peter
dc.creatorDiez, Orland
dc.creatorDing, Yuan
dc.creatorDite, Gillian
dc.creatorDitsch, Nina
dc.creatorDomchek, Susan
dc.creatorDorfling, Cecilia
dc.creatordos Santos Silva, Isabel
dc.creatorDurda, Katarzyna
dc.creatorDwek, Miriam
dc.creatorEccles, Diana
dc.creatorEkici, Arif
dc.creatorEliassen, Heather
dc.creatorEllberg, Carolina
dc.creatorEriksson, Mikael
dc.creatorEvans, D. Gareth
dc.creatorFasching, Peter
dc.creatorFigueroa, Jonine
dc.creatorFlyger, Henrik
dc.creatorFoulkes, William
dc.creatorFriebel, Tara
dc.creatorFriedman, Eitan
dc.creatorGabrielson, Marike
dc.creatorGaddam, Pragna
dc.creatorGago Dominguez, Manuela
dc.creatorGao, Chi
dc.creatorGapstur, Susan
dc.creatorGarber, Judy
dc.creatorGarcía Closas, Montserrat
dc.creatorGarcía Sáenz, José Angel
dc.creatorGaudet, Mia
dc.creatorGayther, Simon
dc.creatorGEMO Study Collaborators
dc.creatorGiles, Graham
dc.creatorGlendon, Gord
dc.creatorGodwin, Andrew
dc.creatorGoldberg, Mark
dc.creatorGoldgar, David
dc.creatorGuénel, Pascal
dc.creatorGutierrez Barrera, Angelica
dc.creatorHaeberle, Lothar
dc.creatorHaiman, Christopher
dc.creatorHåkansson, Niclas
dc.creatorHall, Per
dc.creatorHamann, Ute
dc.creatorHarrington, Patricia
dc.creatorHein, Alexander
dc.creatorHeyworth, Jane
dc.creatorHillemanns, Peter
dc.creatorHollestelle, Antoinette
dc.creatorHopper, John
dc.creatorHosgood, Dean
dc.creatorHowell, Anthony
dc.creatorHu, Chunling
dc.creatorHulick, Peter
dc.creatorHunter, David
dc.creatorImyanitov, Evgeny
dc.creatorFab, KCon
dc.creatorIsaacs, Claudine
dc.creatorJakimovska, Milena
dc.creatorJakubowska, Anna
dc.creatorJames, Paul
dc.creatorJanavicius, Ramunas
dc.creatorJanni, Wolfgang
dc.creatorJohn, Esther
dc.creatorJones, Michael
dc.creatorJung, Audrey
dc.creatorKaaks, Rudolf
dc.creatorKarlan, Beth
dc.creatorKhusnutdinova, Elza
dc.creatorKitahara, Cari
dc.creatorKonstantopoulou, Irene
dc.creatorKoutros, Stella
dc.creatorKraft, Peter
dc.creatorLambrechts, Diether
dc.creatorLazaro, Conxi
dc.creatorMarchand, Loic
dc.creatorLester, Jenny
dc.creatorLesueur, Fabienne
dc.creatorLilyquist, Jenna
dc.creatorLoud, Jennifer
dc.creatorLu, Karen
dc.creatorLuben, Robert
dc.creatorLubinski, Jan
dc.creatorMannermaa, Arto
dc.creatorManoochehri, Mehdi
dc.creatorManoukian, Siranoush
dc.creatorMargolin, Sara
dc.creatorMartens, John
dc.creatorMaurer, Tabea
dc.creatorMavroudis, Dimitrios
dc.creatorMebirouk, Noura
dc.creatorMeindl, Alfons
dc.creatorMenon, Usha
dc.creatorMiller, Austin
dc.creatorMontagna, Marco
dc.creatorNathanson, Katherine
dc.creatorNeuhausen, Susan
dc.creatorNewman, William
dc.creatorDumont, Tu Nguyen
dc.creatorNielsen, Finn Cilius
dc.creatorNielsen, Sarah
dc.creatorZake, Liene
dc.creatorOffit, Kenneth
dc.creatorOlah, Edith
dc.creatorOlopade, Olufunmilayo
dc.creatorOlshan, Andrew
dc.creatorOlson, Janet
dc.creatorOlsson, Håkan
dc.creatorOsorio, Ana
dc.creatorOttini, Laura
dc.creatorPeissel, Bernard
dc.creatorPeixoto, Ana
dc.creatorPeto, Julian
dc.creatorKaranfilska, Dijana
dc.creatorPocza, Timea
dc.creatorPresneau, Nadege
dc.creatorPujana, Miguel Ángel
dc.creatorPunie, Kevin
dc.creatorRack, Brigitte
dc.creatorRantala, Johanna
dc.creatorRashid, Muhammad
dc.creatorMurthy, Rohini
dc.creatorRennert, Gad
dc.creatorLejbkowicz, Flavio
dc.creatorRhenius, Valerie
dc.creatorRomero, Atocha
dc.creatorRookus, Matti
dc.creatorRoss, Eric
dc.creatorRossing, Maria
dc.creatorRudaitis, Vilius
dc.creatorRuebner, Matthias
dc.creatorSaloustros, Emmanouil
dc.creatorSanden, Kristin
dc.creatorSantamariña, Marta
dc.creatorScheuner, Maren
dc.creatorSchmutzler, Rita
dc.creatorSchneider, Michael
dc.creatorScott, Christopher
dc.creatorSenter, Leigha
dc.creatorShah, Mitul
dc.creatorSharma, Priyanka
dc.creatorShu, Xiao
dc.creatorSimard, Jacques
dc.creatorSinger, Christian
dc.creatorSohn, Christof
dc.creatorSoucy, Penny
dc.creatorSouthey, Melissa
dc.creatorSpinelli, John
dc.creatorSteele, Linda
dc.creatorLyonnet, Dominique
dc.creatorTapper, William
dc.creatorTeixeira, Manuel
dc.creatorTerry, Mary
dc.creatorThomassen, Mads
dc.creatorThompson, Jennifer
dc.creatorThull, Darcy
dc.creatorTischkowitz, Marc
dc.creatorTollenaar, Rob
dc.creatorTorres-López, Diana María
dc.creatorTroester, Melissa
dc.creatorTruong, Thérèse
dc.creatorTung, Nadine
dc.creatorUntch, Michael
dc.creatorVachon, Celine
dc.creatorvan Rensburg, Elizabeth
dc.creatorvan Veen, Elke
dc.creatorVega, Ana
dc.creatorViel, Alessandra
dc.creatorWappenschmidt, Barbara
dc.creatorWeitzel, Jeffrey
dc.creatorWendt, Camilla
dc.creatorWieme, Greet
dc.creatorWolk, Alicja
dc.creatorYang, Xiaohong
dc.creatorZheng, Wei
dc.creatorZiogas, Argyrios
dc.creatorZorn, Kristin
dc.creatorDunning, Alison
dc.creatorLush, Michael
dc.creatorWang, Qin
dc.creatorMcGuffog, Lesley
dc.creatorParsons, Michael
dc.creatorPharoah, Paul
dc.creatorFostira, Florentia
dc.creatorToland, Amanda
dc.creatorAndrulis, Irene
dc.creatorRamus, Susan
dc.creatorSwerdlow, Anthony
dc.creatorGreene, Mark
dc.creatorChung, Wendy
dc.creatorMilne, Roger
dc.creatorTrench, Georgia
dc.creatorDörk, Thilo
dc.creatorSchmidt, Marjanka
dc.creatorEaston, Douglas
dc.creatorRadice, Paolo
dc.creatorHahnen, Eric
dc.creatorAntoniou, Antonis
dc.creatorCouch, Fergus
dc.creatorNevanlinna, Heli
dc.creatorSurrallés, Jordi
dc.creatorPeterlongo, Paolo
dc.creatorKConFab
dc.date2020-03-13T14:05:39Z
dc.date2020-04-15T13:35:21Z
dc.date2020-03-13T14:05:39Z
dc.date2020-04-15T13:35:21Z
dc.date2019-11-01
dc.date.accessioned2025-10-30T13:09:14Z
dc.date.available2025-10-30T13:09:14Z
dc.identifierhttps://www.nature.com/articles/s41523-019-0127-5.pdf
dc.identifier2374-4677
dc.identifierhttp://hdl.handle.net/10554/47630
dc.identifierhttps://doi.org/10.1038/s41523-019-0127-5
dc.identifier.urihttp://test.repositoriodigital.com:8080/handle/123456789/176132
dc.descriptionQ1
dc.descriptionQ1
dc.descriptionCompleto
dc.description1 - 14
dc.descriptionMujeres con Cáncer de mama
dc.descriptionBreast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PAM, 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 pArg1931* 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.
dc.descriptionhttps://orcid.org/0000-0002-9879-9775
dc.descriptionRevista Internacional - Indexada
dc.descriptionA1
dc.formatPDF
dc.formatapplication/pdf
dc.formatPapel / Electrónico
dc.formatapplication/pdf
dc.languagespa
dc.rightsAtribución-NoComercial 4.0 Internacional
dc.rightshttp://creativecommons.org/licenses/by-nc/4.0/
dc.sourceNPJ Breast Cancer; Volumen 5 (2019)
dc.subjectFanconi-anemia
dc.subjectGene
dc.subjectC.5791C-GREATER-THAN-T
dc.subjectMutations
dc.titleThe FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer
dc.typeinfo:eu-repo/semantics/article
dc.typehttp://purl.org/coar/version/c_ab4af688f83e57aa
dc.typeArtículo de revista


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