FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.

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Fältnamn	Indikatorer	Metadata
000		07169naa a2201453 4500
001		oai:lup.lub.lu.se:e64ee922-cb52-4b54-9cc0-a9fe3ab655a5
003		SwePub
008		160401s2015 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
024	7	a https://lup.lub.lu.se/record/77512682 URI
024	7	a https://doi.org/10.1093/hmg/ddv2512 DOI
040		a (SwePub)lu
041		a engb eng
042		9 SwePub
072	7	a art2 swepub-publicationtype
072	7	a ref2 swepub-contenttype
100	1	a Peterlongo, Paolo4 aut
245	1 0	a FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.
264		c 2015-06-30
264	1	b Oxford University Press (OUP),c 2015
520		a Numerous genetic factors that influence breast cancer risk are known. However, approximately two-thirds of the overall familial risk remain unexplained. To determine whether some of the missing heritability is due to rare variants conferring high to moderate risk, we tested for an association between the c.5791C>T nonsense mutation (p.Arg1931; rs144567652) in exon 22 of FANCM gene and breast cancer. An analysis of genotyping data from 8635 familial breast cancer cases and 6625 controls from different countries yielded an association between the c.5791C>T mutation and breast cancer risk [odds ratio (OR) = 3.93 (95% confidence interval (CI) = 1.28-12.11; P = 0.017)]. Moreover, we performed two meta-analyses of studies from countries with carriers in both cases and controls and of all available data. These analyses showed breast cancer associations with OR = 3.67 (95% CI = 1.04-12.87; P = 0.043) and OR = 3.33 (95% CI = 1.09-13.62; P = 0.032), respectively. Based on information theory-based prediction, we established that the mutation caused an out-of-frame deletion of exon 22, due to the creation of a binding site for the pre-mRNA processing protein hnRNP A1. Furthermore, genetic complementation analyses showed that the mutation influenced the DNA repair activity of the FANCM protein. In summary, we provide evidence for the first time showing that the common p.Arg1931 loss-of-function variant in FANCM is a risk factor for familial breast cancer.
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Cancer och onkologi0 (SwePub)302032 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Cancer and Oncology0 (SwePub)302032 hsv//eng
700	1	a Catucci, Irene4 aut
700	1	a Colombo, Mara4 aut
700	1	a Caleca, Laura4 aut
700	1	a Mucaki, Eliseos4 aut
700	1	a Bogliolo, Massimo4 aut
700	1	a Marin, Maria4 aut
700	1	a Damiola, Francesca4 aut
700	1	a Bernard, Loris4 aut
700	1	a Pensotti, Valeria4 aut
700	1	a Volorio, Sara4 aut
700	1	a Dall'Olio, Valentina4 aut
700	1	a Meindl, Alfons4 aut
700	1	a Bartram, Claus4 aut
700	1	a Sutter, Christian4 aut
700	1	a Surowy, Harald4 aut
700	1	a Sornin, Valérie4 aut
700	1	a Dondon, Marie-Gabrielle4 aut
700	1	a Eon-Marchais, Séverine4 aut
700	1	a Stoppa-Lyonnet, Dominique4 aut
700	1	a Andrieu, Nadine4 aut
700	1	a Sinilnikova, Olga M4 aut
700	1	a Mitchell, Gillian4 aut
700	1	a James, Paul A4 aut
700	1	a Thompson, Ella4 aut
700	1	a Marchetti, Marina4 aut
700	1	a Verzeroli, Cristina4 aut
700	1	a Tartari, Carmen4 aut
700	1	a Capone, Gabriele Lorenzo4 aut
700	1	a Putignano, Anna Laura4 aut
700	1	a Genuardi, Maurizio4 aut
700	1	a Medici, Veronica4 aut
700	1	a Marchi, Isabella4 aut
700	1	a Federico, Massimo4 aut
700	1	a Tognazzo, Silvia4 aut
700	1	a Matricardi, Laura4 aut
700	1	a Agata, Simona4 aut
700	1	a Dolcetti, Riccardo4 aut
700	1	a Puppa, Lara Della4 aut
700	1	a Cini, Giulia4 aut
700	1	a Gismondi, Viviana4 aut
700	1	a Viassolo, Valeria4 aut
700	1	a Perfumo, Chiara4 aut
700	1	a Mencarelli, Maria Antonietta4 aut
700	1	a Baldassarri, Margherita4 aut
700	1	a Peissel, Bernard4 aut
700	1	a Roversi, Gaia4 aut
700	1	a Silvestri, Valentina4 aut
700	1	a Rizzolo, Piera4 aut
700	1	a Spina, Francesca4 aut
700	1	a Vivanet, Caterina4 aut
700	1	a Tibiletti, Maria Grazia4 aut
700	1	a Caligo, Maria Adelaide4 aut
700	1	a Gambino, Gaetana4 aut
700	1	a Tommasi, Stefania4 aut
700	1	a Pilato, Brunella4 aut
700	1	a Tondini, Carlo4 aut
700	1	a Corna, Chiara4 aut
700	1	a Bonanni, Bernardo4 aut
700	1	a Barile, Monica4 aut
700	1	a Osorio, Ana4 aut
700	1	a Benitez, Javier4 aut
700	1	a Balestrino, Luisa4 aut
700	1	a Ottini, Laura4 aut
700	1	a Manoukian, Siranoush4 aut
700	1	a Pierotti, Marco A4 aut
700	1	a Renieri, Alessandra4 aut
700	1	a Varesco, Liliana4 aut
700	1	a Couch, Fergus J4 aut
700	1	a Wang, Xianshu4 aut
700	1	a Devilee, Peter4 aut
700	1	a Hilbers, Florentine S4 aut
700	1	a van Asperen, Christi J4 aut
700	1	a Viel, Alessandra4 aut
700	1	a Montagna, Marco4 aut
700	1	a Cortesi, Laura4 aut
700	1	a Diez, Orland4 aut
700	1	a Balmaña, Judith4 aut
700	1	a Hauke, Jan4 aut
700	1	a Schmutzler, Rita K4 aut
700	1	a Papi, Laura4 aut
700	1	a Pujana, Miguel Angel4 aut
700	1	a Lázaro, Conxi4 aut
700	1	a Falanga, Anna4 aut
700	1	a Offit, Kenneth4 aut
700	1	a Vijai, Joseph4 aut
700	1	a Campbell, Ian4 aut
700	1	a Burwinkel, Barbara4 aut
700	1	a Kvist, Andersu Lund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Familjär bröstcancer,Forskargrupper vid Lunds universitet,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine,Familial Breast Cancer,Lund University Research Groups4 aut0 (Swepub:lu)ekol-akv
700	1	a Ehrencrona, Hansu Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine4 aut0 (Swepub:lu)med-hen
700	1	a Mazoyer, Sylvie4 aut
700	1	a Pizzamiglio, Sara4 aut
700	1	a Verderio, Paolo4 aut
700	1	a Surralles, Jordi4 aut
700	1	a Rogan, Peter K4 aut
700	1	a Radice, Paolo4 aut
710	2	a Bröstcancer-genetikb Sektion I4 org
773	0	t Human Molecular Geneticsd : Oxford University Press (OUP)g 24:18, s. 5345-5355q 24:18<5345-5355x 0964-6906x 1460-2083
856	4	u http://www.ncbi.nlm.nih.gov/pubmed/26130695?dopt=Abstracty FULLTEXT
856	4	u http://dx.doi.org/10.1093/hmg/ddv251y FULLTEXT
856	4	u https://academic.oup.com/hmg/article-pdf/24/18/5345/2016898/ddv251.pdf
856	4 8	u https://lup.lub.lu.se/record/7751268
856	4 8	u https://doi.org/10.1093/hmg/ddv251

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Av författaren/redakt...: Peterlongo, Paol ...; Catucci, Irene; Colombo, Mara; Caleca, Laura; Mucaki, Eliseos; Bogliolo, Massim ...; visa fler...; Marin, Maria; Damiola, Frances ...; Bernard, Loris; Pensotti, Valeri ...; Volorio, Sara; Dall'Olio, Valen ...; Meindl, Alfons; Bartram, Claus; Sutter, Christia ...; Surowy, Harald; Sornin, Valérie; Dondon, Marie-Ga ...; Eon-Marchais, Sé ...; Stoppa-Lyonnet, ...; Andrieu, Nadine; Sinilnikova, Olg ...; Mitchell, Gillia ...; James, Paul A; Thompson, Ella; Marchetti, Marin ...; Verzeroli, Crist ...; Tartari, Carmen; Capone, Gabriele ...; Putignano, Anna ...; Genuardi, Mauriz ...; Medici, Veronica; Marchi, Isabella; Federico, Massim ...; Tognazzo, Silvia; Matricardi, Laur ...; Agata, Simona; Dolcetti, Riccar ...; Puppa, Lara Dell ...; Cini, Giulia; Gismondi, Vivian ...; Viassolo, Valeri ...; Perfumo, Chiara; Mencarelli, Mari ...; Baldassarri, Mar ...; Peissel, Bernard; Roversi, Gaia; Silvestri, Valen ...; Rizzolo, Piera; Spina, Francesca; Vivanet, Caterin ...; Tibiletti, Maria ...; Caligo, Maria Ad ...; Gambino, Gaetana; Tommasi, Stefani ...; Pilato, Brunella; Tondini, Carlo; Corna, Chiara; Bonanni, Bernard ...; Barile, Monica; Osorio, Ana; Benitez, Javier; Balestrino, Luis ...; Ottini, Laura; Manoukian, Siran ...; Pierotti, Marco ...; Renieri, Alessan ...; Varesco, Liliana; Couch, Fergus J; Wang, Xianshu; Devilee, Peter; Hilbers, Florent ...; van Asperen, Chr ...; Viel, Alessandra; Montagna, Marco; Cortesi, Laura; Diez, Orland; Balmaña, Judith; Hauke, Jan; Schmutzler, Rita ...; Papi, Laura; Pujana, Miguel A ...; Lázaro, Conxi; Falanga, Anna; Offit, Kenneth; Vijai, Joseph; Campbell, Ian; Burwinkel, Barba ...; Kvist, Anders; Ehrencrona, Hans; Mazoyer, Sylvie; Pizzamiglio, Sar ...; Verderio, Paolo; Surralles, Jordi; Rogan, Peter K; Radice, Paolo; visa färre...

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