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Select item 101723811.

FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women

Gisella Figlioli, Amandine Billaud, Thomas U. Ahearn, Natalia N. Antonenkova, Heiko Becher, Matthias W. Beckmann, Sabine Behrens, Javier Benitez, Marina Bermisheva, Marinus J. Blok, Natalia V. Bogdanova, Bernardo Bonanni, Barbara Burwinkel, Nicola J. Camp, Archie Campbell, Jose E. Castelao, Melissa H. Cessna, Stephen J. Chanock, NBCS Collaborators, Kamila Czene, Peter Devilee, Thilo Dörk, Christoph Engel, Mikael Eriksson, Peter A. Fasching, Jonine D. Figueroa, Marike Gabrielson, Manuela Gago-Dominguez, Montserrat García-Closas, Anna González-Neira, Felix Grassmann, Pascal Guénel, Melanie Gündert, Andreas Hadjisavvas, Eric Hahnen, Per Hall, Ute Hamann, Patricia A. Harrington, Wei He, Peter Hillemanns, Antoinette Hollestelle, Maartje J. Hooning, Reiner Hoppe, Anthony Howell, Keith Humphreys, KConFab Investigators, Agnes Jager, Anna Jakubowska, Elza K. Khusnutdinova, Yon-Dschun Ko, Vessela N. Kristensen, Annika Lindblom, Jolanta Lissowska, Jan Lubiński, Arto Mannermaa, Siranoush Manoukian, Sara Margolin, Dimitrios Mavroudis, William G. Newman, Nadia Obi, Mihalis I. Panayiotidis, Muhammad U. Rashid, Valerie Rhenius, Matti A. Rookus, Emmanouil Saloustros, Elinor J. Sawyer, Rita K. Schmutzler, Mitul Shah, Reijo Sironen, Melissa C. Southey, Maija Suvanto, Rob A. E. M. Tollenaar, Ian Tomlinson, Thérèse Truong, Lizet E. van der Kolk, Elke M. van Veen, Barbara Wappenschmidt, Xiaohong R. Yang, Manjeet K. Bolla, Joe Dennis, Alison M. Dunning, Douglas F. Easton, Michael Lush, Kyriaki Michailidou, Paul D. P. Pharoah, Qin Wang, Muriel A. Adank, Marjanka K. Schmidt, Irene L. Andrulis, Jenny Chang-Claude, Heli Nevanlinna, Georgia Chenevix-Trench, D. Gareth Evans, Roger L. Milne, Paolo Radice, Paolo Peterlongo

Eur J Hum Genet. 2023 May; 31(5): 578–587. Published online 2023 Jan 27. doi: 10.1038/s41431-022-01257-w

PMCID:: PMC10172381

Abstract Article PDF–2.6M

Select item 81559562.

A Genome-Wide Association Study for Hypertensive Kidney Disease in Korean Men

Hye-Rim Kim, Hyun-Seok Jin, Yong-Bin Eom

Genes (Basel) 2021 May; 12(5): 751. Published online 2021 May 17. doi: 10.3390/genes12050751

PMCID:: PMC8155956

Abstract Article PDF–1.2M

Select item 77675533.

FANCM c5791C>T stopgain mutation (rs144567652) is a familial colorectal cancer risk factor

Lisa A. Cannon‐Albright, Craig C. Teerlink, Jeffrey Stevens, Angela K. Snow, Bryony A. Thompson, Russell Bell, Kim N. Nguyen, Nykole R. Sargent, Wendy K. Kohlmann, Deborah W. Neklason, Sean V. Tavtigian

Mol Genet Genomic Med. 2020 Dec; 8(12): e1532. Published online 2020 Oct 29. doi: 10.1002/mgg3.1532

PMCID:: PMC7767553

Abstract Article PDF–534K

Select item 69490224.

ALT control, delete: FANCM as an anti-cancer target in Alternative Lengthening of Telomeres

Julienne J O’Rourke, Rohan Bythell-Douglas, Elyse A Dunn, Andrew J Deans

Nucleus. 2019; 10(1): 221–230. Published online 2019 Nov 14. doi: 10.1080/19491034.2019.1685246

PMCID:: PMC6949022

Abstract Article PDF–2.6M

Select item 69110015.

FANCM suppresses DNA replication stress at ALT telomeres by disrupting TERRA R-loops

Xiaolei Pan, Yun Chen, Beena Biju, Naveed Ahmed, Joyce Kong, Marti Goldenberg, Judy Huang, Nandakumar Mohan, Stephanie Klosek, Kian Parsa, Chia-Yu Guh, Robert Lu, Hilda A. Pickett, Hsueh-Ping Chu, Dong Zhang

Sci Rep. 2019; 9: 19110. Published online 2019 Dec 13. doi: 10.1038/s41598-019-55537-5

PMCID:: PMC6911001

Abstract Article PDF–1.7M

Select item 65386666.

FANCM limits ALT activity by restricting telomeric replication stress induced by deregulated BLM and R-loops

Bruno Silva, Richard Pentz, Ana Margarida Figueira, Rajika Arora, Yong Woo Lee, Charlotte Hodson, Harry Wischnewski, Andrew J. Deans, Claus M. Azzalin

Nat Commun. 2019; 10: 2253. Published online 2019 May 28. doi: 10.1038/s41467-019-10179-z

PMCID:: PMC6538666

Abstract Article PDF–7.2M

Select item 60808357.

Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia

Laura Kasak, Margus Punab, Liina Nagirnaja, Marina Grigorova, Ave Minajeva, Alexandra M. Lopes, Anna Maria Punab, Kenneth I. Aston, Filipa Carvalho, Eve Laasik, Lee B. Smith, GEMINI Consortium, Donald F. Conrad, Maris Laan

Am J Hum Genet. 2018 Aug 2; 103(2): 200–212. Published online 2018 Aug 2. doi: 10.1016/j.ajhg.2018.07.005

PMCID:: PMC6080835

Abstract Article PDF–1.3M

Select item 58242918.

Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer

Guido Neidhardt, Jan Hauke, Juliane Ramser, Eva Groß, Andrea Gehrig, Clemens R. Müller, Anne-Karin Kahlert, Karl Hackmann, Ellen Honisch, Dieter Niederacher, Stefanie Heilmann-Heimbach, André Franke, Wolfgang Lieb, Holger Thiele, Janine Altmüller, Peter Nürnberg, Kristina Klaschik, Corinna Ernst, Nina Ditsch, Frank Jessen, Alfredo Ramirez, Barbara Wappenschmidt, Christoph Engel, Kerstin Rhiem, Alfons Meindl, Rita K. Schmutzler, Eric Hahnen

JAMA Oncol. 2017 Sep; 3(9): 1245–1248. Published online 2016 Dec 29. doi: 10.1001/jamaoncol.2016.5592

PMCID:: PMC5824291

Abstract Article

Select item 56454299.

FANCM mutation c.5791C>T is a risk factor for triple-negative breast cancer in the Finnish population

Johanna I. Kiiski, Anna Tervasmäki, Liisa M. Pelttari, Sofia Khan, Tuomo Mantere, Katri Pylkäs, Arto Mannermaa, Maria Tengström, Anders Kvist, Åke Borg, Veli-Matti Kosma, Anne Kallioniemi, Johanna Schleutker, Ralf Bützow, Carl Blomqvist, Kristiina Aittomäki, Robert Winqvist, Heli Nevanlinna

Breast Cancer Res Treat. 2017; 166(1): 217–226. Published online 2017 Jul 12. doi: 10.1007/s10549-017-4388-0

PMCID:: PMC5645429

Abstract Article PDF–384K

Select item 509578110.

FANCM c.5101C>T mutation associates with breast cancer survival and treatment outcome

Johanna I. Kiiski, Rainer Fagerholm, Anna Tervasmäki, Liisa M. Pelttari, Sofia Khan, Maral Jamshidi, Tuomo Mantere, Katri Pylkäs, Jiri Bartek, Jirina Bartkova, Arto Mannermaa, Maria Tengström, Veli‐Matti Kosma, Robert Winqvist, Anne Kallioniemi, Kristiina Aittomäki, Carl Blomqvist, Heli Nevanlinna

Int J Cancer. 2016 Dec 15; 139(12): 2760–2770. Published online 2016 Sep 19. doi: 10.1002/ijc.30394

PMCID:: PMC5095781

Abstract Article PDF–369K

Select item 455082311.

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

Paolo Peterlongo, Irene Catucci, Mara Colombo, Laura Caleca, Eliseos Mucaki, Massimo Bogliolo, Maria Marin, Francesca Damiola, Loris Bernard, Valeria Pensotti, Sara Volorio, Valentina Dall'Olio, Alfons Meindl, Claus Bartram, Christian Sutter, Harald Surowy, Valérie Sornin, Marie-Gabrielle Dondon, Séverine Eon-Marchais, Dominique Stoppa-Lyonnet, Nadine Andrieu, Olga M. Sinilnikova, GENESIS, Gillian Mitchell, Paul A. James, Ella Thompson, kConFab, SWE-BRCA, Marina Marchetti, Cristina Verzeroli, Carmen Tartari, Gabriele Lorenzo Capone, Anna Laura Putignano, Maurizio Genuardi, Veronica Medici, Isabella Marchi, Massimo Federico, Silvia Tognazzo, Laura Matricardi, Simona Agata, Riccardo Dolcetti, Lara Della Puppa, Giulia Cini, Viviana Gismondi, Valeria Viassolo, Chiara Perfumo, Maria Antonietta Mencarelli, Margherita Baldassarri, Bernard Peissel, Gaia Roversi, Valentina Silvestri, Piera Rizzolo, Francesca Spina, Caterina Vivanet, Maria Grazia Tibiletti, Maria Adelaide Caligo, Gaetana Gambino, Stefania Tommasi, Brunella Pilato, Carlo Tondini, Chiara Corna, Bernardo Bonanni, Monica Barile, Ana Osorio, Javier Benitez, Luisa Balestrino, Laura Ottini, Siranoush Manoukian, Marco A. Pierotti, Alessandra Renieri, Liliana Varesco, Fergus J. Couch, Xianshu Wang, Peter Devilee, Florentine S. Hilbers, Christi J. van Asperen, Alessandra Viel, Marco Montagna, Laura Cortesi, Orland Diez, Judith Balmaña, Jan Hauke, Rita K. Schmutzler, Laura Papi, Miguel Angel Pujana, Conxi Lázaro, Anna Falanga, Kenneth Offit, Joseph Vijai, Ian Campbell, Barbara Burwinkel, Anders Kvist, Hans Ehrencrona, Sylvie Mazoyer, Sara Pizzamiglio, Paolo Verderio, Jordi Surralles, Peter K. Rogan, Paolo Radice

Hum Mol Genet. 2015 Sep 15; 24(18): 5345–5355. Published online 2015 Jun 30. doi: 10.1093/hmg/ddv251

PMCID:: PMC4550823

Abstract Article PDF–433K

Select item 421027812.

Exome sequencing identifies FANCM as a susceptibility gene for triple-negative breast cancer

Johanna I. Kiiski, Liisa M. Pelttari, Sofia Khan, Edda S. Freysteinsdottir, Inga Reynisdottir, Steven N. Hart, Hermela Shimelis, Sara Vilske, Anne Kallioniemi, Johanna Schleutker, Arto Leminen, Ralf Bützow, Carl Blomqvist, Rosa B. Barkardottir, Fergus J. Couch, Kristiina Aittomäki, Heli Nevanlinna

Proc Natl Acad Sci U S A. 2014 Oct 21; 111(42): 15172–15177. Published online 2014 Oct 6. doi: 10.1073/pnas.1407909111

PMCID:: PMC4210278

Abstract Article PDF–732K

Select item 282917213.

FANCM: fork pause, rewind and play

Spencer J Collis, Simon J Boulton

EMBO J. 2010 Feb 17; 29(4): 703–705. doi: 10.1038/emboj.2009.415

PMCID:: PMC2829172

Article PDF–270K

Select item 282915814.

FANCM regulates DNA chain elongation and is stabilized by S-phase checkpoint signalling

Sarah Luke-Glaser, Brian Luke, Simona Grossi, Angelos Constantinou

EMBO J. 2010 Feb 17; 29(4): 795–805. Published online 2009 Dec 10. doi: 10.1038/emboj.2009.371

PMCID:: PMC2829158

Abstract Article PDF–678K

Select item 675230815.

A homozygous FANCM frameshift pathogenic variant causes male infertility

Hao Yin, Hui Ma, Sajjad Hussain, Huan Zhang, Xuefeng Xie, Long Jiang, Xiaohua Jiang, Furhan Iqbal, Ihtisham Bukhari, Hanwei Jiang, Asim Ali, Liangwen Zhong, Tao Li, Suixing Fan, Beibei Zhang, Jianing Gao, Yang Li, Jabeen Nazish, Teka Khan, Manan Khan, Muhammad Zubair, Qiaomei Hao, Hui Fang, Jun Huang, Mahmoud Huleihel, Jiahao Sha, Tej K. Pandita, Yuanwei Zhang, Qinghua Shi

Genet Med. 2019; 21(1): 62–70. Published online 2018 Jun 12. doi: 10.1038/s41436-018-0015-7

Correction in:: Genet Med. 2019; 21(1): 266.

PMCID:: PMC6752308

Abstract Article PDF–962K

Select item 577554716.

FANCM and RECQL genetic variants and breast cancer susceptibility: relevance to South Poland and West Ukraine

Tú Nguyen-Dumont, Aleksander Myszka, Pawel Karpinski, Maria M. Sasiadek, Hayane Akopyan, Fleur Hammet, Helen Tsimiklis, Daniel J. Park, Bernard J. Pope, Ryszard Slezak, Nataliya Kitsera, Aleksandra Siekierzynska, Melissa C. Southey

BMC Med Genet. 2018; 19: 12. Published online 2018 Jan 19. doi: 10.1186/s12881-018-0524-x

PMCID:: PMC5775547

Abstract Article PDF–448K

Select item 576456817.

A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency

Baptiste Fouquet, Patrycja Pawlikowska, Sandrine Caburet, Celine Guigon, Marika Mäkinen, Laura Tanner, Marja Hietala, Kaja Urbanska, Laura Bellutti, Bérangère Legois, Bettina Bessieres, Alain Gougeon, Alexandra Benachi, Gabriel Livera, Filippo Rosselli, Reiner A Veitia, Micheline Misrahi

eLife. 2017; 6: e30490. Published online 2017 Dec 12. doi: 10.7554/eLife.30490