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@ARTICLE{Figlioli:147517,
author = {G. Figlioli and M. Bogliolo and I. Catucci and L. Caleca
and S. V. Lasheras and R. Pujol and J. I. Kiiski and T. A.
Muranen and D. R. Barnes and J. Dennis and K. Michailidou
and M. K. Bolla and G. Leslie and C. M. Aalfs and M. A.
Adank and J. Adlard and S. Agata and K. Cadoo and B. A.
Agnarsson and T. Ahearn and K. Aittomäki and C. B.
Ambrosone and L. Andrews and H. Anton-Culver and N. N.
Antonenkova and V. Arndt$^*$ and N. Arnold and K. J. Aronson
and B. K. Arun and E. Asseryanis and B. Auber and P. Auvinen
and J. Azzollini and J. Balmaña and R. B. Barkardottir and
D. Barrowdale and J. Barwell and L. E. Beane Freeman and C.
J. Beauparlant and M. W. Beckmann and S. Behrens$^*$ and J.
Benitez and R. Berger and M. Bermisheva and A. M. Blanco and
C. Blomqvist and N. V. Bogdanova and A. Bojesen and S. E.
Bojesen and B. Bonanni and A. Borg and A. F. Brady and H.
Brauch and H. Brenner$^*$ and T. Brüning and B.
Burwinkel$^*$ and S. S. Buys and T. Caldés and A. Caliebe
and M. A. Caligo and D. Campa and I. G. Campbell and F.
Canzian$^*$ and J. E. Castelao and J. Chang-Claude$^*$ and
S. J. Chanock and K. B. M. Claes and C. L. Clarke and A.
Collavoli and T. A. Conner and D. G. Cox and C. Cybulski and
K. Czene and M. B. Daly and M. de la Hoya and P. Devilee and
O. Diez and Y. C. Ding and G. S. Dite and N. Ditsch and S.
M. Domchek and C. M. Dorfling and I. Dos-Santos-Silva and K.
Durda and M. Dwek and D. M. Eccles and A. B. Ekici and A. H.
Eliassen and C. Ellberg and M. Eriksson and D. G. Evans and
P. A. Fasching and J. Figueroa and H. Flyger and W. D.
Foulkes and T. M. Friebel and E. Friedman and M. Gabrielson
and P. Gaddam and M. Gago-Dominguez and C. Gao and S. M.
Gapstur and J. Garber and M. García-Closas and J. A.
García-Sáenz and M. M. Gaudet and S. A. Gayther and G. G.
Giles and G. Glendon and A. K. Godwin and M. S. Goldberg and
D. E. Goldgar and P. Guénel and A. M. Gutierrez-Barrera and
L. Haeberle and C. A. Haiman and N. Håkansson and P. Hall
and U. Hamann$^*$ and P. A. Harrington and A. Hein and J.
Heyworth and P. Hillemanns and A. Hollestelle and J. L.
Hopper and H. D. Hosgood and A. Howell and C. Hu and P. J.
Hulick and D. J. Hunter and E. N. Imyanitov and C. Isaacs
and M. Jakimovska and A. Jakubowska and P. James and R.
Janavicius and W. Janni and E. M. John and M. E. Jones and
A. Jung$^*$ and R. Kaaks$^*$ and B. Y. Karlan and E.
Khusnutdinova and C. M. Kitahara and I. Konstantopoulou and
S. Koutros and P. Kraft and D. Lambrechts and C. Lazaro and
L. Le Marchand and J. Lester and F. Lesueur and J. Lilyquist
and J. T. Loud and K. H. Lu and R. N. Luben and J. Lubinski
and A. Mannermaa and M. Manoochehri$^*$ and S. Manoukian and
S. Margolin and J. W. M. Martens and T. Maurer and D.
Mavroudis and N. Mebirouk and A. Meindl and U. Menon and A.
Miller and M. Montagna and K. L. Nathanson and S. L.
Neuhausen and W. G. Newman and T. Nguyen-Dumont and F. C.
Nielsen and S. Nielsen and L. Nikitina-Zake and K. Offit and
E. Olah and O. I. Olopade and A. F. Olshan and J. E. Olson
and H. Olsson and A. Osorio and L. Ottini and B. Peissel and
A. Peixoto and J. Peto and D. Plaseska-Karanfilska and T.
Pocza and N. Presneau and M. A. Pujana and K. Punie and B.
Rack and J. Rantala and M. U. Rashid and R. Rau-Murthy and
G. Rennert and F. Lejbkowicz and V. Rhenius and A. Romero
and M. A. Rookus and E. A. Ross and M. Rossing and V.
Rudaitis and M. Ruebner and E. Saloustros and K. Sanden and
M. Santamariña and M. T. Scheuner and R. K. Schmutzler and
M. Schneider and C. Scott and L. Senter and M. Shah and P.
Sharma and X.-O. Shu and J. Simard and C. F. Singer and C.
Sohn and P. Soucy and M. C. Southey and J. J. Spinelli and
L. Steele and D. Stoppa-Lyonnet and W. J. Tapper and M. R.
Teixeira and M. B. Terry and M. Thomassen and J. Thompson
and D. L. Thull and M. Tischkowitz and R. A. E. M. Tollenaar
and D. Torres and M. A. Troester and T. Truong and N. Tung
and M. Untch and C. M. Vachon and E. J. van Rensburg and E.
M. van Veen and A. Vega and A. Viel and B. Wappenschmidt and
J. N. Weitzel and C. Wendt and G. Wieme and A. Wolk and X.
R. Yang and W. Zheng and A. Ziogas and K. K. Zorn and A. M.
Dunning and M. Lush and Q. Wang and L. McGuffog and M. T.
Parsons and P. D. P. Pharoah and F. Fostira and A. E. Toland
and I. L. Andrulis and S. J. Ramus and A. J. Swerdlow and M.
H. Greene and W. K. Chung and R. L. Milne and G.
Chenevix-Trench and T. Dörk and M. K. Schmidt and D. F.
Easton and P. Radice and E. Hahnen and A. C. Antoniou and F.
J. Couch and H. Nevanlinna and J. Surrallés and P.
Peterlongo and R. Balleine and R. Baxter and S. Braye and J.
Carpenter and J. Dahlstrom and J. Forbes and C. S. Lee and
D. Marsh and A. Morey and N. Pathmanathan and R. Scott and
P. Simpson and A. Spigelman and N. Wilcken and D. Yip and N.
Zeps and M. Belotti and O. Bertrand and A.-M. Birot and B.
Buecher and S. Caputo and A. Dupré and E. Fourme and M.
Gauthier-Villars and L. Golmard and M. Le Mentec and V.
Moncoutier and A. de Pauw and C. Saule and N. Boutry-Kryza
and A. Calender and S. Giraud and M. Léone and B.
Bressac-de-Paillerets and O. Caron and M. Guillaud-Bataille
and Y.-J. Bignon and N. Uhrhammer and V. Bonadona and C.
Lasset and P. Berthet and L. Castera and D. Vaur and V.
Bourdon and C. Noguès and T. Noguchi and C. Popovici and A.
Remenieras and H. Sobol and I. Coupier and P. Pujol and C.
Adenis and A. Dumont and F. Révillion and D. Muller and E.
Barouk-Simonet and F. Bonnet and V. Bubien and M. Longy and
N. Sevenet and L. Gladieff and R. Guimbaud and V. Feillel
and C. Toulas and H. Dreyfus and C. D. Leroux and M.
Peysselon and C. Rebischung and C. Legrand and A. Baurand
and G. Bertolone and F. Coron and L. Faivre and C. Jacquot
and S. Lizard and C. Kientz and M. Lebrun and F. Prieur and
S. Fert-Ferrer and V. Mari and L. Vénat-Bouvet and S.
Bézieau and C. Delnatte and I. Mortemousque and C. Colas
and F. Coulet and F. Soubrier and M. Warcoin and M. Bronner
and J. Sokolowska and M.-A. Collonge-Rame and A. Damette and
P. Gesta and H. Lallaoui and J. Chiesa and D. Molina-Gomes
and O. Ingster and S. Manouvrier-Hanu and S. Lejeune and M.
Aghmesheh and S. Greening and D. Amor and M. Gattas and L.
Botes and M. Buckley and M. Friedlander and J. Koehler and
B. Meiser and M. Saleh and E. Salisbury and A. Trainer and
K. Tucker and Y. Antill and A. Dobrovic and A. Fellows and
S. Fox and M. Harris and S. Nightingale and K. Phillips and
J. Sambrook and H. Thorne and S. Armitage and L. Arnold and
R. Balleine and R. Kefford and J. Kirk and E. Rickard and P.
Bastick and J. Beesley and N. Hayward and A. Spurdle and L.
Walker and J. Beilby and C. Saunders and I. Bennett and A.
Blackburn and M. Bogwitz and C. Gaff and G. Lindeman and N.
Pachter and C. Scott and A. Sexton and J. Visvader and J.
Taylor and I. Winship and M. Brennan and M. Brown and J.
French and S. Edwards and M. Burgess and J. Burke and B.
Patterson and P. Butow and B. Culling and L. Caldon and D.
Callen and D. Chauhan and M. Eisenbruch and L. Heiniger and
M. Chauhan and A. Christian and J. Dixon and A. Kidd and P.
Cohen and A. Colley and G. Fenton and A. Crook and R.
Dickson and M. Field and D. Marsh and J. Cui and M. Cummings
and S.-J. Dawson and A. DeFazio and M. Delatycki and T.
Dudding and T. Edkins and G. Farshid and J. Flanagan and P.
Fong and L. Forrest and D. Gallego-Ortega and P. George and
G. Gill and J. Kollias and E. Haan and S. Hart and M.
Jenkins and C. Hunt and S. Lakhani and L. Lipton and L. Lobb
and G. Mann and S. A. McLachlan and S. O'Connell and S.
O'Sullivan and E. Pieper and B. Robinson and J. Saunus and
E. Scott and R. Scott and A. Shelling and P. Simpson and R.
Williams and M. A. Young},
collaboration = {A. Investigators and GEMO Study Collaborators and KConFab},
title = {{T}he {FANCM}:p.{A}rg658* truncating variant is associated
with risk of triple-negative breast cancer.},
journal = {npj Breast cancer},
volume = {5},
number = {1},
issn = {2374-4677},
address = {London},
publisher = {Nature Publ. Group},
reportid = {DKFZ-2019-02571},
pages = {38},
year = {2019},
abstract = {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.},
cin = {C070 / C020 / C080 / C055 / B072 / L101},
ddc = {610},
cid = {I:(DE-He78)C070-20160331 / I:(DE-He78)C020-20160331 /
I:(DE-He78)C080-20160331 / I:(DE-He78)C055-20160331 /
I:(DE-He78)B072-20160331 / I:(DE-He78)L101-20160331},
pnm = {319H - Addenda (POF3-319H)},
pid = {G:(DE-HGF)POF3-319H},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:31700994},
pmc = {pmc:PMC6825205},
doi = {10.1038/s41523-019-0127-5},
url = {https://inrepo02.dkfz.de/record/147517},
}
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