Search: onr:"swepub:oai:lup.lub.lu.se:e64ee922-cb52-4b54-9cc0-a9fe3ab655a5" >
FANCM c.5791C>T non...
-
Peterlongo, Paolo
(author)
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.
- Article/chapterEnglish2015
Publisher, publication year, extent ...
-
2015-06-30
-
Oxford University Press (OUP),2015
Numbers
-
LIBRIS-ID:oai:lup.lub.lu.se:e64ee922-cb52-4b54-9cc0-a9fe3ab655a5
-
https://lup.lub.lu.se/record/7751268URI
-
https://doi.org/10.1093/hmg/ddv251DOI
Supplementary language notes
-
Language:English
-
Summary in:English
Part of subdatabase
Classification
-
Subject category:art swepub-publicationtype
-
Subject category:ref swepub-contenttype
Notes
-
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.
Subject headings and genre
Added entries (persons, corporate bodies, meetings, titles ...)
-
Catucci, Irene
(author)
-
Colombo, Mara
(author)
-
Caleca, Laura
(author)
-
Mucaki, Eliseos
(author)
-
Bogliolo, Massimo
(author)
-
Marin, Maria
(author)
-
Damiola, Francesca
(author)
-
Bernard, Loris
(author)
-
Pensotti, Valeria
(author)
-
Volorio, Sara
(author)
-
Dall'Olio, Valentina
(author)
-
Meindl, Alfons
(author)
-
Bartram, Claus
(author)
-
Sutter, Christian
(author)
-
Surowy, Harald
(author)
-
Sornin, Valérie
(author)
-
Dondon, Marie-Gabrielle
(author)
-
Eon-Marchais, Séverine
(author)
-
Stoppa-Lyonnet, Dominique
(author)
-
Andrieu, Nadine
(author)
-
Sinilnikova, Olga M
(author)
-
Mitchell, Gillian
(author)
-
James, Paul A
(author)
-
Thompson, Ella
(author)
-
Marchetti, Marina
(author)
-
Verzeroli, Cristina
(author)
-
Tartari, Carmen
(author)
-
Capone, Gabriele Lorenzo
(author)
-
Putignano, Anna Laura
(author)
-
Genuardi, Maurizio
(author)
-
Medici, Veronica
(author)
-
Marchi, Isabella
(author)
-
Federico, Massimo
(author)
-
Tognazzo, Silvia
(author)
-
Matricardi, Laura
(author)
-
Agata, Simona
(author)
-
Dolcetti, Riccardo
(author)
-
Puppa, Lara Della
(author)
-
Cini, Giulia
(author)
-
Gismondi, Viviana
(author)
-
Viassolo, Valeria
(author)
-
Perfumo, Chiara
(author)
-
Mencarelli, Maria Antonietta
(author)
-
Baldassarri, Margherita
(author)
-
Peissel, Bernard
(author)
-
Roversi, Gaia
(author)
-
Silvestri, Valentina
(author)
-
Rizzolo, Piera
(author)
-
Spina, Francesca
(author)
-
Vivanet, Caterina
(author)
-
Tibiletti, Maria Grazia
(author)
-
Caligo, Maria Adelaide
(author)
-
Gambino, Gaetana
(author)
-
Tommasi, Stefania
(author)
-
Pilato, Brunella
(author)
-
Tondini, Carlo
(author)
-
Corna, Chiara
(author)
-
Bonanni, Bernardo
(author)
-
Barile, Monica
(author)
-
Osorio, Ana
(author)
-
Benitez, Javier
(author)
-
Balestrino, Luisa
(author)
-
Ottini, Laura
(author)
-
Manoukian, Siranoush
(author)
-
Pierotti, Marco A
(author)
-
Renieri, Alessandra
(author)
-
Varesco, Liliana
(author)
-
Couch, Fergus J
(author)
-
Wang, Xianshu
(author)
-
Devilee, Peter
(author)
-
Hilbers, Florentine S
(author)
-
van Asperen, Christi J
(author)
-
Viel, Alessandra
(author)
-
Montagna, Marco
(author)
-
Cortesi, Laura
(author)
-
Diez, Orland
(author)
-
Balmaña, Judith
(author)
-
Hauke, Jan
(author)
-
Schmutzler, Rita K
(author)
-
Papi, Laura
(author)
-
Pujana, Miguel Angel
(author)
-
Lázaro, Conxi
(author)
-
Falanga, Anna
(author)
-
Offit, Kenneth
(author)
-
Vijai, Joseph
(author)
-
Campbell, Ian
(author)
-
Burwinkel, Barbara
(author)
-
Kvist, AndersLund 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 Groups(Swepub:lu)ekol-akv
(author)
-
Ehrencrona, HansLund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine(Swepub:lu)med-hen
(author)
-
Mazoyer, Sylvie
(author)
-
Pizzamiglio, Sara
(author)
-
Verderio, Paolo
(author)
-
Surralles, Jordi
(author)
-
Rogan, Peter K
(author)
-
Radice, Paolo
(author)
-
Bröstcancer-genetikSektion I
(creator_code:org_t)
Related titles
-
In:Human Molecular Genetics: Oxford University Press (OUP)24:18, s. 5345-53550964-69061460-2083
Internet link
Find in a library
To the university's database
- By the author/editor
-
Peterlongo, Paol ...
-
Catucci, Irene
-
Colombo, Mara
-
Caleca, Laura
-
Mucaki, Eliseos
-
Bogliolo, Massim ...
-
show more...
-
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
-
show less...
- About the subject
-
- MEDICAL AND HEALTH SCIENCES
-
MEDICAL AND HEAL ...
-
and Clinical Medicin ...
-
and Cancer and Oncol ...
- Articles in the publication
-
Human Molecular ...
- By the university
-
Lund University