Peterlongo, Paolo
ORCID: 0000-0001-6951-6855, Catucci, Irene, Colombo, Mara
ORCID: 0000-0001-5465-354X, Caleca, Laura
ORCID: 0000-0002-3381-7493, Mucaki, Eliseos, Bogliolo, Massimo
ORCID: 0000-0001-8240-7784, Marin, Maria, Damiola, Francesca
ORCID: 0000-0002-0238-1252, Bernard, Loris, Pensotti, Valeria, Volorio, Sara, Dall'Olio, Valentina, Meindl, Alfons, Bartram, Claus, Sutter, Christian, Surowy, Harald
ORCID: 0000-0002-3595-9188, Sornin, Valerie, Dondon, Marie-Gabrielle
ORCID: 0000-0001-6016-8524, Eon-Marchais, Severine, Stoppa-Lyonnet, Dominique, Andrieu, Nadine, Sinilnikova, Olga M., Mitchell, Gillian, James, Paul A., Thompson, Ella, Marchetti, Marina
ORCID: 0000-0001-9036-960X, Verzeroli, Cristina, Tartari, Carmen, Capone, Gabriele Lorenzo, Putignano, Anna Laura, Genuardi, Maurizio
ORCID: 0000-0002-7410-8351, Medici, Veronica, Marchi, Isabella, Federico, Massimo
ORCID: 0000-0002-5074-3262, Tognazzo, Silvia
ORCID: 0000-0002-6260-1261, Matricardi, Laura
ORCID: 0000-0002-0241-1810, Agata, Simona, Dolcetti, Riccardo
ORCID: 0000-0003-1625-9853, Della Puppa, Lara, Cini, Giulia
ORCID: 0000-0002-8696-8922, Gismondi, Viviana, Viassolo, Valeria, Perfumo, Chiara, Mencarelli, Maria Antonietta, Baldassarri, Margherita, Peissel, Bernard
ORCID: 0000-0001-9233-3571, Roversi, Gaia, Silvestri, Valentina
ORCID: 0000-0003-0712-9379, Rizzolo, Piera
ORCID: 0000-0002-3421-1485, Spina, Francesca, Vivanet, Caterina, Tibiletti, Maria Grazia, Caligo, Maria Adelaide, Gambino, Gaetana
ORCID: 0000-0002-0671-0244, Tommasi, Stefania
ORCID: 0000-0002-2157-2978, Pilato, Brunella, Tondini, Carlo, Corna, Chiara, Bonanni, Bernardo, Barile, Monica, Osorio, Ana
ORCID: 0000-0001-8124-3984, Benitez, Javier, Balestrino, Luisa, Ottini, Laura, Manoukian, Siranoush, Pierotti, Marco A., Renieri, Alessandra
ORCID: 0000-0002-0846-9220, Varesco, Liliana
ORCID: 0000-0003-4871-6668, Couch, Fergus J., Wang, Xianshu, Devilee, Peter
ORCID: 0000-0002-8023-2009, Hilbers, Florentine S., van Asperen, Christi J., Viel, Alessandra
ORCID: 0000-0003-2804-0840, Montagna, Marco, Cortesi, Laura
ORCID: 0000-0001-8950-8561, Diez, Orland, Balmana, Judith
ORCID: 0000-0002-0762-6415, Hauke, Jan, Schmutzler, Rita K., Papi, Laura
ORCID: 0000-0003-4552-9517, Angel Pujana, Miguel, Lazaro, Conxi, Falanga, Anna
ORCID: 0000-0002-5007-3457, Offit, Kenneth, Vijai, Joseph, Campbell, Ian
ORCID: 0000-0002-7773-4155, Burwinkel, Barbara, Kvist, Anders
ORCID: 0000-0002-1358-0695, Ehrencrona, Hans
ORCID: 0000-0002-5589-3622, Mazoyer, Sylvie
ORCID: 0000-0002-2135-0160, Pizzamiglio, Sara
ORCID: 0000-0002-7759-0550, Verderio, Paolo
ORCID: 0000-0002-9231-1281, Surralles, Jordi
ORCID: 0000-0002-4041-7519, Rogan, Peter K. and Radice, Paolo
ORCID: 0000-0001-6298-4111
(2015).
FANCM c.5791C > T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.
Hum. Mol. Genet., 24 (18).
S. 5345 - 5356.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2083
Full text not available from this repository.
Abstract
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.
Item Type: |
Journal Article
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Creators: |
Creators | Email | ORCID | ORCID Put Code |
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Peterlongo, Paolo | UNSPECIFIED | orcid.org/0000-0001-6951-6855 | UNSPECIFIED | Catucci, Irene | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Colombo, Mara | UNSPECIFIED | orcid.org/0000-0001-5465-354X | UNSPECIFIED | Caleca, Laura | UNSPECIFIED | orcid.org/0000-0002-3381-7493 | UNSPECIFIED | Mucaki, Eliseos | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Bogliolo, Massimo | UNSPECIFIED | orcid.org/0000-0001-8240-7784 | UNSPECIFIED | Marin, Maria | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Damiola, Francesca | UNSPECIFIED | orcid.org/0000-0002-0238-1252 | UNSPECIFIED | Bernard, Loris | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Pensotti, Valeria | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Volorio, Sara | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Dall'Olio, Valentina | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Meindl, Alfons | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Bartram, Claus | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Sutter, Christian | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Surowy, Harald | UNSPECIFIED | orcid.org/0000-0002-3595-9188 | UNSPECIFIED | Sornin, Valerie | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Dondon, Marie-Gabrielle | UNSPECIFIED | orcid.org/0000-0001-6016-8524 | UNSPECIFIED | Eon-Marchais, Severine | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Stoppa-Lyonnet, Dominique | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Andrieu, Nadine | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Sinilnikova, Olga M. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Mitchell, Gillian | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | James, Paul A. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Thompson, Ella | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Marchetti, Marina | UNSPECIFIED | orcid.org/0000-0001-9036-960X | UNSPECIFIED | Verzeroli, Cristina | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Tartari, Carmen | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Capone, Gabriele Lorenzo | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Putignano, Anna Laura | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Genuardi, Maurizio | UNSPECIFIED | orcid.org/0000-0002-7410-8351 | UNSPECIFIED | Medici, Veronica | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Marchi, Isabella | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Federico, Massimo | UNSPECIFIED | orcid.org/0000-0002-5074-3262 | UNSPECIFIED | Tognazzo, Silvia | UNSPECIFIED | orcid.org/0000-0002-6260-1261 | UNSPECIFIED | Matricardi, Laura | UNSPECIFIED | orcid.org/0000-0002-0241-1810 | UNSPECIFIED | Agata, Simona | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Dolcetti, Riccardo | UNSPECIFIED | orcid.org/0000-0003-1625-9853 | UNSPECIFIED | Della Puppa, Lara | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Cini, Giulia | UNSPECIFIED | orcid.org/0000-0002-8696-8922 | UNSPECIFIED | Gismondi, Viviana | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Viassolo, Valeria | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Perfumo, Chiara | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Mencarelli, Maria Antonietta | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Baldassarri, Margherita | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Peissel, Bernard | UNSPECIFIED | orcid.org/0000-0001-9233-3571 | UNSPECIFIED | Roversi, Gaia | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Silvestri, Valentina | UNSPECIFIED | orcid.org/0000-0003-0712-9379 | UNSPECIFIED | Rizzolo, Piera | UNSPECIFIED | orcid.org/0000-0002-3421-1485 | UNSPECIFIED | Spina, Francesca | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Vivanet, Caterina | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Tibiletti, Maria Grazia | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Caligo, Maria Adelaide | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Gambino, Gaetana | UNSPECIFIED | orcid.org/0000-0002-0671-0244 | UNSPECIFIED | Tommasi, Stefania | UNSPECIFIED | orcid.org/0000-0002-2157-2978 | UNSPECIFIED | Pilato, Brunella | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Tondini, Carlo | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Corna, Chiara | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Bonanni, Bernardo | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Barile, Monica | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Osorio, Ana | UNSPECIFIED | orcid.org/0000-0001-8124-3984 | UNSPECIFIED | Benitez, Javier | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Balestrino, Luisa | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Ottini, Laura | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Manoukian, Siranoush | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Pierotti, Marco A. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Renieri, Alessandra | UNSPECIFIED | orcid.org/0000-0002-0846-9220 | UNSPECIFIED | Varesco, Liliana | UNSPECIFIED | orcid.org/0000-0003-4871-6668 | UNSPECIFIED | Couch, Fergus J. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Wang, Xianshu | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Devilee, Peter | UNSPECIFIED | orcid.org/0000-0002-8023-2009 | UNSPECIFIED | Hilbers, Florentine S. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | van Asperen, Christi J. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Viel, Alessandra | UNSPECIFIED | orcid.org/0000-0003-2804-0840 | UNSPECIFIED | Montagna, Marco | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Cortesi, Laura | UNSPECIFIED | orcid.org/0000-0001-8950-8561 | UNSPECIFIED | Diez, Orland | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Balmana, Judith | UNSPECIFIED | orcid.org/0000-0002-0762-6415 | UNSPECIFIED | Hauke, Jan | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Schmutzler, Rita K. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Papi, Laura | UNSPECIFIED | orcid.org/0000-0003-4552-9517 | UNSPECIFIED | Angel Pujana, Miguel | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Lazaro, Conxi | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Falanga, Anna | UNSPECIFIED | orcid.org/0000-0002-5007-3457 | UNSPECIFIED | Offit, Kenneth | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Vijai, Joseph | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Campbell, Ian | UNSPECIFIED | orcid.org/0000-0002-7773-4155 | UNSPECIFIED | Burwinkel, Barbara | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Kvist, Anders | UNSPECIFIED | orcid.org/0000-0002-1358-0695 | UNSPECIFIED | Ehrencrona, Hans | UNSPECIFIED | orcid.org/0000-0002-5589-3622 | UNSPECIFIED | Mazoyer, Sylvie | UNSPECIFIED | orcid.org/0000-0002-2135-0160 | UNSPECIFIED | Pizzamiglio, Sara | UNSPECIFIED | orcid.org/0000-0002-7759-0550 | UNSPECIFIED | Verderio, Paolo | UNSPECIFIED | orcid.org/0000-0002-9231-1281 | UNSPECIFIED | Surralles, Jordi | UNSPECIFIED | orcid.org/0000-0002-4041-7519 | UNSPECIFIED | Rogan, Peter K. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Radice, Paolo | UNSPECIFIED | orcid.org/0000-0001-6298-4111 | UNSPECIFIED |
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URN: |
urn:nbn:de:hbz:38-392971 |
DOI: |
10.1093/hmg/ddv251 |
Journal or Publication Title: |
Hum. Mol. Genet. |
Volume: |
24 |
Number: |
18 |
Page Range: |
S. 5345 - 5356 |
Date: |
2015 |
Publisher: |
OXFORD UNIV PRESS |
Place of Publication: |
OXFORD |
ISSN: |
1460-2083 |
Language: |
English |
Faculty: |
Unspecified |
Divisions: |
Unspecified |
Subjects: |
no entry |
Uncontrolled Keywords: |
Keywords | Language |
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COMPLEMENTATION GROUP-M; SUSCEPTIBILITY GENE; CROSS-LINKS; ANEMIA; DISEASE; RARE; PROTEINS; ALLELES; PALB2; XRCC2 | Multiple languages | Biochemistry & Molecular Biology; Genetics & Heredity | Multiple languages |
|
URI: |
http://kups.ub.uni-koeln.de/id/eprint/39297 |
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