Prevalence of Germline Mutations in Cancer Predisposition Genes in Patients with Pancreatic Cancer or Suspected Related Hereditary Syndromes: Historical Prospective Analysis.
Cancers
Dal Buono, Arianna A; Poliani, Laura L; Greco, Luana L; Bianchi, Paolo P; Barile, Monica M; Giatti, Valentina V; Bonifacio, Cristiana C; Carrara, Silvia S; Malesci, Alberto A; Laghi, Luigi L
Publication Date: 2023-03-20
Variant appearance in text: FANCM: 5101C>T; Gln1701Ter
Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.
Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09
Variant appearance in text: FANCM: 5101C>T; Gln1701Ter; rs147021911
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: FANCM: 5101C>T; Gln1701Ter
Integrative Analysis of Germline Rare Variants in Clear and Non-Clear Cell Renal Cell Carcinoma.
Medrxiv : The Preprint Server For Health Sciences
Han, Seunghun S; Camp, Sabrina Y SY; Chu, Hoyin H; Collins, Ryan R; Gillani, Riaz R; Park, Jihye J; Bakouny, Ziad Z; Ricker, Cora A CA; Reardon, Brendan B; Moore, Nicholas N; Kofman, Eric E; Labaki, Chris C; Braun, David D; Choueiri, Toni K TK; AlDubayan, Saud H SH; Van Allen, Eliezer M EM
Publication Date: 2023-01-19
Variant appearance in text: FANCM: 5101C>T; Gln1701Ter; rs147021911
Enrichment of cancer-predisposing germline variants in adult and pediatric patients with acute lymphoblastic leukemia.
Scientific Reports
Douglas, Suvi P M SPM; Lahtinen, Atte K AK; Koski, Jessica R JR; Leimi, Lilli L; Keränen, Mikko A I MAI; Koskenvuo, Minna M; Heckman, Caroline A CA; Jahnukainen, Kirsi K; Pitkänen, Esa E; Wartiovaara-Kautto, Ulla U; Kilpivaara, Outi O
Publication Date: 2022-06-23
Variant appearance in text: FANCM: 5101C>T; Gln1701Ter
Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases.
Human Molecular Genetics
Yngvadottir, Bryndis B; Andreou, Avgi A; Bassaganyas, Laia L; Larionov, Alexey A; Cornish, Alex J AJ; Chubb, Daniel D; Saunders, Charlie N CN; Smith, Philip S PS; Zhang, Huairen H; Cole, Yasemin Y; Research Consortium, Genomics England GE; Larkin, James J; Browning, Lisa L; Turajlic, Samra S; Litchfield, Kevin K; Houlston, Richard S RS; Maher, Eamonn R ER
Publication Date: 2022-08-25
Variant appearance in text: FANCM: 5101C>T; Gln1701Ter; rs147021911
Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.
Npj Breast Cancer
Southey, Melissa C MC; Dowty, James G JG; Riaz, Moeen M; Steen, Jason A JA; Renault, Anne-Laure AL; Tucker, Katherine K; Kirk, Judy J; James, Paul P; Winship, Ingrid I; Pachter, Nicholas N; Poplawski, Nicola N; Grist, Scott S; Park, Daniel J DJ; Pope, Bernard J BJ; Mahmood, Khalid K; Hammet, Fleur F; Mahmoodi, Maryam M; Tsimiklis, Helen H; Theys, Derrick D; Rewse, Amanda A; Willis, Amanda A; Morrow, April A; Speechly, Catherine C; Harris, Rebecca R; Sebra, Robert R; Schadt, Eric E; Lacaze, Paul P; McNeil, John J JJ; Giles, Graham G GG; Milne, Roger L RL; Hopper, John L JL; Nguyen-Dumont, Tú T
Publication Date: 2021-12-09
Variant appearance in text: FANCM: 5101C>T; Gln1701Ter
Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.
Npj Breast Cancer
Southey, Melissa C MC; Dowty, James G JG; Riaz, Moeen M; Steen, Jason A JA; Renault, Anne-Laure AL; Tucker, Katherine K; Kirk, Judy J; James, Paul P; Winship, Ingrid I; Pachter, Nicholas N; Poplawski, Nicola N; Grist, Scott S; Park, Daniel J DJ; Pope, Bernard J BJ; Mahmood, Khalid K; Hammet, Fleur F; Mahmoodi, Maryam M; Tsimiklis, Helen H; Theys, Derrick D; Rewse, Amanda A; Willis, Amanda A; Morrow, April A; Speechly, Catherine C; Harris, Rebecca R; Sebra, Robert R; Schadt, Eric E; Lacaze, Paul P; McNeil, John J JJ; Giles, Graham G GG; Milne, Roger L RL; Hopper, John L JL; Nguyen-Dumont, Tú T
Publication Date: 2021-12-09
Variant appearance in text: FANCM: 5101C>T; Gln1701Ter
Investigation of monogenic causes of familial breast cancer: data from the BEACCON case-control study.
Npj Breast Cancer
Li, Na N; Lim, Belle W X BWX; Thompson, Ella R ER; McInerny, Simone S; Zethoven, Magnus M; Cheasley, Dane D; Rowley, Simone M SM; Wong-Brown, Michelle W MW; Devereux, Lisa L; Gorringe, Kylie L KL; Sloan, Erica K EK; Trainer, Alison A; Scott, Rodney J RJ; James, Paul A PA; Campbell, Ian G IG
Implications of the germline variants of DNA damage response genes detected by cancer precision medicine for radiological risk communication and cancer therapy decisions.
Journal Of Radiation Research
Hosoya, Noriko N; Miyagawa, Kiyoshi K
Publication Date: 2021-05-05
Variant appearance in text: FANCM: 5101C>T; Q1701X
Rare Germline Pathogenic Variants Identified by Multigene Panel Testing and the Risk of Aggressive Prostate Cancer.
Cancers
Nguyen-Dumont, Tú T; Dowty, James G JG; MacInnis, Robert J RJ; Steen, Jason A JA; Riaz, Moeen M; Dugué, Pierre-Antoine PA; Renault, Anne-Laure AL; Hammet, Fleur F; Mahmoodi, Maryam M; Theys, Derrick D; Tsimiklis, Helen H; Severi, Gianluca G; Bolton, Damien D; Lacaze, Paul P; Sebra, Robert R; Schadt, Eric E; McNeil, John J; Giles, Graham G GG; Milne, Roger L RL; Southey, Melissa C MC
Publication Date: 2021-03-24
Variant appearance in text: FANCM: 5101C>T; Gln1701*
Association of germline variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer.
Npj Breast Cancer
Muranen, Taru A TA; Khan, Sofia S; Fagerholm, Rainer R; Aittomäki, Kristiina K; Cunningham, Julie M JM; Dennis, Joe J; Leslie, Goska G; McGuffog, Lesley L; Parsons, Michael T MT; Simard, Jacques J; Slager, Susan S; Soucy, Penny P; Easton, Douglas F DF; Tischkowitz, Marc M; Spurdle, Amanda B AB; , ; Schmutzler, Rita K RK; Wappenschmidt, Barbara B; Hahnen, Eric E; Hooning, Maartje J MJ; , ; Singer, Christian F CF; Wagner, Gabriel G; Thomassen, Mads M; Pedersen, Inge Sokilde IS; Domchek, Susan M SM; Nathanson, Katherine L KL; Lazaro, Conxi C; Rossing, Caroline Maria CM; Andrulis, Irene L IL; Teixeira, Manuel R MR; James, Paul P; Garber, Judy J; Weitzel, Jeffrey N JN; , ; Jakubowska, Anna A; Yannoukakos, Drakoulis D; John, Esther M EM; Southey, Melissa C MC; Schmidt, Marjanka K MK; Antoniou, Antonis C AC; Chenevix-Trench, Georgia G; Blomqvist, Carl C; Nevanlinna, Heli H
A Systematic Literature Review of Whole Exome and Genome Sequencing Population Studies of Genetic Susceptibility to Cancer.
Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Rotunno, Melissa M; Barajas, Rolando R; Clyne, Mindy M; Hoover, Elise E; Simonds, Naoko I NI; Lam, Tram Kim TK; Mechanic, Leah E LE; Goldstein, Alisa M AM; Gillanders, Elizabeth M EM
Publication Date: 2020-08
Variant appearance in text: FANCM: 5101C>T; Q1701*; rs147021911
Clinical and genomic insights into circulating tumor DNA-based alterations across the spectrum of metastatic hormone-sensitive and castrate-resistant prostate cancer.
Ebiomedicine
Kohli, Manish M; Tan, Winston W; Zheng, Tiantian T; Wang, Amy A; Montesinos, Carlos C; Wong, Calven C; Du, Pan P; Jia, Shidong S; Yadav, Siddhartha S; Horvath, Lisa G LG; Mahon, Kate L KL; Kwan, Edmond M EM; Fettke, Heidi H; Yu, Jianjun J; Azad, Arun A AA
Publication Date: 2020-04
Variant appearance in text: FANCM: Gln1701Ter; rs147021911
Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes.
Nature Communications
Subramanian, Deepak N DN; Zethoven, Magnus M; McInerny, Simone S; Morgan, James A JA; Rowley, Simone M SM; Lee, Jue Er Amanda JEA; Li, Na N; Gorringe, Kylie L KL; James, Paul A PA; Campbell, Ian G IG
Publication Date: 2020-04-02
Variant appearance in text: FANCM: 5101C>T; Gln1701Ter
Inherited DNA Repair Gene Mutations in Men with Lethal Prostate Cancer.
Genes
Rantapero, Tommi T; Wahlfors, Tiina T; Kähler, Anna A; Hultman, Christina C; Lindberg, Johan J; Tammela, Teuvo Lj TL; Nykter, Matti M; Schleutker, Johanna J; Wiklund, Fredrik F
Publication Date: 2020-03-14
Variant appearance in text: FANCM: Q1701X; rs147021911
The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer.
Npj Breast Cancer
Figlioli, Gisella G; Bogliolo, Massimo M; Catucci, Irene I; Caleca, Laura L; Lasheras, Sandra Viz SV; Pujol, Roser R; Kiiski, Johanna I JI; Muranen, Taru A TA; Barnes, Daniel R DR; Dennis, Joe J; Michailidou, Kyriaki K; Bolla, Manjeet K MK; Leslie, Goska G; Aalfs, Cora M CM; , ; Adank, Muriel A MA; Adlard, Julian J; Agata, Simona S; Cadoo, Karen K; Agnarsson, Bjarni A BA; Ahearn, Thomas T; Aittomäki, Kristiina K; Ambrosone, Christine B CB; Andrews, Lesley L; Anton-Culver, Hoda H; Antonenkova, Natalia N NN; Arndt, Volker V; Arnold, Norbert N; Aronson, Kristan J KJ; Arun, Banu K BK; Asseryanis, Ella E; Auber, Bernd B; Auvinen, Päivi P; Azzollini, Jacopo J; Balmaña, Judith J; Barkardottir, Rosa B RB; Barrowdale, Daniel D; Barwell, Julian J; Beane Freeman, Laura E LE; Beauparlant, Charles Joly CJ; Beckmann, Matthias W MW; Behrens, Sabine S; Benitez, Javier J; Berger, Raanan R; Bermisheva, Marina M; Blanco, Amie M AM; Blomqvist, Carl C; Bogdanova, Natalia V NV; Bojesen, Anders A; Bojesen, Stig E SE; Bonanni, Bernardo B; Borg, Ake A; Brady, Angela F AF; Brauch, Hiltrud H; Brenner, Hermann H; Brüning, Thomas T; Burwinkel, Barbara B; Buys, Saundra S SS; Caldés, Trinidad T; Caliebe, Almuth A; Caligo, Maria A MA; Campa, Daniele D; Campbell, Ian G IG; Canzian, Federico F; Castelao, Jose E JE; Chang-Claude, Jenny J; Chanock, Stephen J SJ; Claes, Kathleen B M KBM; Clarke, Christine L CL; Collavoli, Anita A; Conner, Thomas A TA; Cox, David G DG; Cybulski, Cezary C; Czene, Kamila K; Daly, Mary B MB; de la Hoya, Miguel M; Devilee, Peter P; Diez, Orland O; Ding, Yuan Chun YC; Dite, Gillian S GS; Ditsch, Nina N; Domchek, Susan M SM; Dorfling, Cecilia M CM; Dos-Santos-Silva, Isabel I; Durda, Katarzyna K; Dwek, Miriam M; Eccles, Diana M DM; Ekici, Arif B AB; Eliassen, A Heather AH; Ellberg, Carolina C; Eriksson, Mikael M; Evans, D Gareth DG; Fasching, Peter A PA; Figueroa, Jonine J; Flyger, Henrik H; Foulkes, William D WD; Friebel, Tara M TM; Friedman, Eitan E; Gabrielson, Marike M; Gaddam, Pragna P; Gago-Dominguez, Manuela M; Gao, Chi C; Gapstur, Susan M SM; Garber, Judy J; García-Closas, Montserrat M; García-Sáenz, José A JA; Gaudet, Mia M MM; Gayther, Simon A SA; , ; Giles, Graham G GG; Glendon, Gord G; Godwin, Andrew K AK; Goldberg, Mark S MS; Goldgar, David E DE; Guénel, Pascal P; Gutierrez-Barrera, Angelica M AM; Haeberle, Lothar L; Haiman, Christopher A CA; Håkansson, Niclas N; Hall, Per P; Hamann, Ute U; Harrington, Patricia A PA; Hein, Alexander A; Heyworth, Jane J; Hillemanns, Peter P; Hollestelle, Antoinette A; Hopper, John L JL; Hosgood, H Dean HD; Howell, Anthony A; Hu, Chunling C; Hulick, Peter J PJ; Hunter, David J DJ; Imyanitov, Evgeny N EN; , ; Isaacs, Claudine C; Jakimovska, Milena M; Jakubowska, Anna A; James, Paul P; Janavicius, Ramunas R; Janni, Wolfgang W; John, Esther M EM; Jones, Michael E ME; Jung, Audrey A; Kaaks, Rudolf R; Karlan, Beth Y BY; Khusnutdinova, Elza E; Kitahara, Cari M CM; Konstantopoulou, Irene I; Koutros, Stella S; Kraft, Peter P; Lambrechts, Diether D; Lazaro, Conxi C; Le Marchand, Loic L; Lester, Jenny J; Lesueur, Fabienne F; Lilyquist, Jenna J; Loud, Jennifer T JT; Lu, Karen H KH; Luben, Robert N RN; Lubinski, Jan J; Mannermaa, Arto A; Manoochehri, Mehdi M; Manoukian, Siranoush S; Margolin, Sara S; Martens, John W M JWM; Maurer, Tabea T; Mavroudis, Dimitrios D; Mebirouk, Noura N; Meindl, Alfons A; Menon, Usha U; Miller, Austin A; Montagna, Marco M; Nathanson, Katherine L KL; Neuhausen, Susan L SL; Newman, William G WG; Nguyen-Dumont, Tu T; Nielsen, Finn Cilius FC; Nielsen, Sarah S; Nikitina-Zake, Liene L; Offit, Kenneth K; Olah, Edith E; Olopade, Olufunmilayo I OI; Olshan, Andrew F AF; Olson, Janet E JE; Olsson, Håkan H; Osorio, Ana A; Ottini, Laura L; Peissel, Bernard B; Peixoto, Ana A; Peto, Julian J; Plaseska-Karanfilska, Dijana D; Pocza, Timea T; Presneau, Nadege N; Pujana, Miquel Angel MA; Punie, Kevin K; Rack, Brigitte B; Rantala, Johanna J; Rashid, Muhammad U MU; Rau-Murthy, Rohini R; Rennert, Gad G; Lejbkowicz, Flavio F; Rhenius, Valerie V; Romero, Atocha A; Rookus, Matti A MA; Ross, Eric A EA; Rossing, Maria M; Rudaitis, Vilius V; Ruebner, Matthias M; Saloustros, Emmanouil E; Sanden, Kristin K; Santamariña, Marta M; Scheuner, Maren T MT; Schmutzler, Rita K RK; Schneider, Michael M; Scott, Christopher C; Senter, Leigha L; Shah, Mitul M; Sharma, Priyanka P; Shu, Xiao-Ou XO; Simard, Jacques J; Singer, Christian F CF; Sohn, Christof C; Soucy, Penny P; Southey, Melissa C MC; Spinelli, John J JJ; Steele, Linda L; Stoppa-Lyonnet, Dominique D; Tapper, William J WJ; Teixeira, Manuel R MR; Terry, Mary Beth MB; Thomassen, Mads M; Thompson, Jennifer J; Thull, Darcy L DL; Tischkowitz, Marc M; Tollenaar, Rob A E M RAEM; Torres, Diana D; Troester, Melissa A MA; Truong, Thérèse T; Tung, Nadine N; Untch, Michael M; Vachon, Celine M CM; van Rensburg, Elizabeth J EJ; van Veen, Elke M EM; Vega, Ana A; Viel, Alessandra A; Wappenschmidt, Barbara B; Weitzel, Jeffrey N JN; Wendt, Camilla C; Wieme, Greet G; Wolk, Alicja A; Yang, Xiaohong R XR; Zheng, Wei W; Ziogas, Argyrios A; Zorn, Kristin K KK; Dunning, Alison M AM; Lush, Michael M; Wang, Qin Q; McGuffog, Lesley L; Parsons, Michael T MT; Pharoah, Paul D P PDP; Fostira, Florentia F; Toland, Amanda E AE; Andrulis, Irene L IL; Ramus, Susan J SJ; Swerdlow, Anthony J AJ; Greene, Mark H MH; Chung, Wendy K WK; Milne, Roger L RL; Chenevix-Trench, Georgia G; Dörk, Thilo T; Schmidt, Marjanka K MK; Easton, Douglas F DF; Radice, Paolo P; Hahnen, Eric E; Antoniou, Antonis C AC; Couch, Fergus J FJ; Nevanlinna, Heli H; Surrallés, Jordi J; Peterlongo, Paolo P
Publication Date: 2019
Variant appearance in text: FANCM: Gln1701*; rs147021911
Pan-cancer whole-genome analyses of metastatic solid tumours.
Nature
Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E