RAD51C c.790G>A ;(p.G264S)

Variant ID: 17-56787304-G-A

NM_058216.2(RAD51C):c.790G>A;(p.G264S)

This variant was identified in 42 publications

View GRCh38 version.




Publications:


Spectrum of High-Risk Mutations among Breast Cancer Patients Referred for Multigene Panel Testing in a Romanian Population.

Cancers
Goidescu, Iulian Gabriel IG; Nemeti, Georgiana G; Surcel, Mihai M; Caracostea, Gabriela G; Florian, Andreea Roxana AR; Cruciat, Gheorghe G; Staicu, Adelina A; Muresan, Daniel D; Goidescu, Cerasela C; Pintican, Roxana R; Eniu, Dan Tudor DT
Publication Date: 2023-03-22

Variant appearance in text: RAD51C: 790G>A
PubMed Link: 36980780
Variant Present in the following documents:
  • cancers-15-01895.pdf
View BVdb publication page



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: RAD51C: 790G>A; Gly264Ser; rs147241704
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 2
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



Genomic complexity predicts resistance to endocrine therapy and CDK4/6 inhibition in hormone receptor-positive (HR+)/HER2-negative metastatic breast cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Davis, Andrew A AA; Luo, Jingqin J; Zheng, Tiantian T; Dai, Chao C; Dong, Xiaoxi X; Tan, Lu L; Suresh, Rama R; Ademuyiwa, Foluso O FO; Rigden, Caron C; Rearden, Timothy P TP; Clifton, Katherine K; Weilbaecher, Katherine K; Frith, Ashley A; Tandra, Pavankumar K PK; Summa, Tracy T; Haas, Brittney B; Thomas, Shana S; Hernandez-Aya, Leonel F LF; Peterson, Lindsay L LL; Wang, Xiaohong X; Luo, Shujun J SJ; Zhou, Kemin K; Du, Pan P; Jia, Shidong S; King, Bonnie L BL; Krishnamurthy, Jairam J; Ma, Cynthia X CX
Publication Date: 2023-01-24

Variant appearance in text: RAD51C: 790G>A; Gly264Ser
PubMed Link: 36693175
Variant Present in the following documents:
  • ccr-22-2177_supplementary_data_s1_suppds1.xlsx, sheet 3
View BVdb publication page



RosettaDDGPrediction for high-throughput mutational scans: from stability to binding.

Protein Science : A Publication Of The Protein Society
Sora, Valentina V; Otamendi Laspiur, Adrian A; Degn, Kristine K; Arnaudi, Matteo M; Utichi, Mattia M; Beltrame, Ludovica L; De Menezes, Dayana D; Orlandi, Matteo M; Stoltze, Ulrik Kristoffer UK; Rigina, Olga O; Sackett, Peter Wad PW; Wadt, Karin K; Schmiegelow, Kjeld K; Tiberti, Matteo M; Papaleo, Elena E
Publication Date: 2022-12-03

Variant appearance in text: RAD51C: G264S
PubMed Link: 36461907
Variant Present in the following documents:
  • PRO-32-e4527-s003.pdf
View BVdb publication page



Homologous recombination-deficient mutation cluster in tumor suppressor RAD51C identified by comprehensive analysis of cancer variants.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Prakash, Rohit R; Rawal, Yashpal Y; Sullivan, Meghan R MR; Grundy, McKenzie K MK; Bret, Hélène H; Mihalevic, Michael J MJ; Rein, Hayley L HL; Baird, Jared M JM; Darrah, Kristie K; Zhang, Fang F; Wang, Raymond R; Traina, Tiffany A TA; Radke, Marc R MR; Kaufmann, Scott H SH; Swisher, Elizabeth M EM; Guérois, Raphaël R; Modesti, Mauro M; Sung, Patrick P; Jasin, Maria M; Bernstein, Kara A KA
Publication Date: 2022-09-20

Variant appearance in text: RAD51C: G264S
PubMed Link: 36099300
Variant Present in the following documents:
  • pnas.2202727119.sapp.pdf
View BVdb publication page



Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.

Scientific Reports
Guindalini, Rodrigo Santa Cruz RSC; Viana, Danilo Vilela DV; Kitajima, João Paulo Fumio Whitaker JPFW; Rocha, Vinícius Marques VM; López, Rossana Verónica Mendoza RVM; Zheng, Yonglan Y; Freitas, Érika É; Monteiro, Fabiola Paoli Mendes FPM; Valim, André A; Schlesinger, David D; Kok, Fernando F; Olopade, Olufunmilayo I OI; Folgueira, Maria Aparecida Azevedo Koike MAAK
Publication Date: 2022-03-09

Variant appearance in text: RAD51C: 790G>A
PubMed Link: 35264596
Variant Present in the following documents:
  • 41598_2022_7383_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.

Journal Of Cancer Research And Clinical Oncology
Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S
Publication Date: 2022-03-05

Variant appearance in text: RAD51C: 790G>A; Gly264Ser; rs147241704
PubMed Link: 35246724
Variant Present in the following documents:
  • 432_2022_3944_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications
Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X
Publication Date: 2022-02-08

Variant appearance in text: RAD51C: G264S
PubMed Link: 35136070
Variant Present in the following documents:
  • 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Integration of tumour sequencing and case-control data to assess pathogenicity of RAD51C missense variants in familial breast cancer.

Npj Breast Cancer
Lim, Belle W X BWX; Li, Na N; Rowley, Simone M SM; Thompson, Ella R ER; McInerny, Simone S; Zethoven, Magnus M; Scott, Rodney J RJ; Devereux, Lisa L; Sloan, Erica K EK; James, Paul A PA; Campbell, Ian G IG
Publication Date: 2022-01-17

Variant appearance in text: RAD51C: Gly264Ser
PubMed Link: 35039523
Variant Present in the following documents:
  • Main text
  • 41523_2021_373_MOESM1_ESM.pdf
  • 41523_2021_Article_373.pdf
View BVdb publication page



Integration of tumour sequencing and case-control data to assess pathogenicity of RAD51C missense variants in familial breast cancer.

Npj Breast Cancer
Lim, Belle W X BWX; Li, Na N; Rowley, Simone M SM; Thompson, Ella R ER; McInerny, Simone S; Zethoven, Magnus M; Scott, Rodney J RJ; Devereux, Lisa L; Sloan, Erica K EK; James, Paul A PA; Campbell, Ian G IG
Publication Date: 2022-01-17

Variant appearance in text: RAD51C: Gly264Ser
PubMed Link: 35039523
Variant Present in the following documents:
  • Main text
  • 41523_2021_373_MOESM1_ESM.pdf
  • 41523_2021_Article_373.pdf
View BVdb publication page



Sequencing for germline mutations in Swedish breast cancer families reveals novel breast cancer risk genes.

Scientific Reports
Helgadottir, Hafdis T HT; Thutkawkorapin, Jessada J; Lagerstedt-Robinson, Kristina K; Lindblom, Annika A
Publication Date: 2021-07-19

Variant appearance in text: RAD51C: G264S; rs147241704
PubMed Link: 34282249
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_94316.pdf
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: RAD51C: 790G>A; Gly264Ser; rs147241704
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.

European Journal Of Human Genetics : Ejhg
Wagener, Rabea R; Taeubner, Julia J; Walter, Carolin C; Yasin, Layal L; Alzoubi, Deya D; Bartenhagen, Christoph C; Attarbaschi, Andishe A; Classen, Carl-Friedrich CF; Kontny, Udo U; Hauer, Julia J; Fischer, Ute U; Dugas, Martin M; Kuhlen, Michaela M; Borkhardt, Arndt A; Brozou, Triantafyllia T
Publication Date: 2021-08

Variant appearance in text: RAD51C: 790G>A; Gly264Ser; rs147241704
PubMed Link: 33840814
Variant Present in the following documents:
  • 41431_2021_878_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.

European Journal Of Human Genetics : Ejhg
Wagener, Rabea R; Taeubner, Julia J; Walter, Carolin C; Yasin, Layal L; Alzoubi, Deya D; Bartenhagen, Christoph C; Attarbaschi, Andishe A; Classen, Carl-Friedrich CF; Kontny, Udo U; Hauer, Julia J; Fischer, Ute U; Dugas, Martin M; Kuhlen, Michaela M; Borkhardt, Arndt A; Brozou, Triantafyllia T
Publication Date: 2021-08

Variant appearance in text: RAD51C: 790G>A; Gly264Ser; rs147241704
PubMed Link: 33840814
Variant Present in the following documents:
  • 41431_2021_878_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Pathogenicity assessment of variants for breast cancer susceptibility genes based on BRCAness of tumor sample.

Cancer Science
Yoshida, Reiko R; Hagio, Taichi T; Kaneyasu, Tomoko T; Gotoh, Osamu O; Osako, Tomo T; Tanaka, Norio N; Amino, Sayuri S; Yaguchi, Noriko N; Nakashima, Eri E; Kitagawa, Dai D; Ueno, Takayuki T; Ohno, Shinji S; Nakajima, Takeshi T; Nakamura, Seigo S; Miki, Yoshio Y; Hirota, Toru T; Takahashi, Shunji S; Matsuura, Masaaki M; Noda, Tetsuo T; Mori, Seiichi S
Publication Date: 2021-03

Variant appearance in text: RAD51C: G264S
PubMed Link: 33421217
Variant Present in the following documents:
  • CAS-112-1310-s002.xlsx, sheet 3
View BVdb publication page



Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.

Plos Genetics
Byrjalsen, Anna A; Hansen, Thomas V O TVO; Stoltze, Ulrik K UK; Mehrjouy, Mana M MM; Barnkob, Nanna Moeller NM; Hjalgrim, Lisa L LL; Mathiasen, René R; Lautrup, Charlotte K CK; Gregersen, Pernille A PA; Hasle, Henrik H; Wehner, Peder S PS; Tuckuviene, Ruta R; Sackett, Peter Wad PW; Laspiur, Adrian O AO; Rossing, Maria M; Marvig, Rasmus L RL; Tommerup, Niels N; Olsen, Tina Elisabeth TE; Scheie, David D; Gupta, Ramneek R; Gerdes, Anne-Marie AM; Schmiegelow, Kjeld K; Wadt, Karin K
Publication Date: 2020-12

Variant appearance in text: RAD51C: 790G>A; Gly264Ser
PubMed Link: 33332384
Variant Present in the following documents:
  • pgen.1009231.s001.xlsx, sheet 2
View BVdb publication page



NGS Panel Testing of Triple-Negative Breast Cancer Patients in Cyprus: A Study of BRCA-Negative Cases.

Cancers
Zanti, Maria M; Loizidou, Maria A MA; Michailidou, Kyriaki K; Pirpa, Panagiota P; Machattou, Christina C; Marcou, Yiola Y; Kyriakou, Flora F; Kakouri, Eleni E; Tanteles, George A GA; Spanou, Elena E; Spyrou, George M GM; Kyriacou, Kyriacos K; Hadjisavvas, Andreas A
Publication Date: 2020-10-27

Variant appearance in text: RAD51C: 790G>A; Gly264Ser
PubMed Link: 33120919
Variant Present in the following documents:
  • cancers-12-03140-s001.pdf
View BVdb publication page



Upregulation of mesothelial genes in ovarian carcinoma cells is associated with an unfavorable clinical outcome and the promotion of cancer cell adhesion.

Molecular Oncology
Ojasalu, Kaire K; Brehm, Corinna C; Hartung, Kristin K; Nischak, Maximilian M; Finkernagel, Florian F; Rexin, Peter P; Nist, Andrea A; Pavlakis, Evangelos E; Stiewe, Thorsten T; Jansen, Julia M JM; Wagner, Uwe U; Gattenlöhner, Stefan S; Bräuninger, Andreas A; Müller-Brüsselbach, Sabine S; Reinartz, Silke S; Müller, Rolf R
Publication Date: 2020-09

Variant appearance in text: RAD51C: 790G>A; G264S
PubMed Link: 32533757
Variant Present in the following documents:
  • MOL2-14-2142-s002.xlsx, sheet 4
View BVdb publication page



Clustering of known low and moderate risk alleles rather than a novel recessive high-risk gene in non-BRCA1/2 sib trios affected with breast cancer.

International Journal Of Cancer
Hilbers, Florentine S FS; van 't Hof, Peter J PJ; Meijers, Caro M CM; Mei, Hailiang H; Michailidou, Kyriaki K; Dennis, Joe J; Hogervorst, Frans B L FBL; Nederlof, Petra M PM; van Asperen, Christi J CJ; Devilee, Peter P
Publication Date: 2020-11-15

Variant appearance in text: RAD51C: 790G>A; G264S; rs147241704
PubMed Link: 32383162
Variant Present in the following documents:
  • Main text
View BVdb publication page



Criteria of the German Consortium for Hereditary Breast and Ovarian Cancer for the Classification of Germline Sequence Variants in Risk Genes for Hereditary Breast and Ovarian Cancer.

Geburtshilfe Und Frauenheilkunde
Wappenschmidt, Barbara B; Hauke, Jan J; Faust, Ulrike U; Niederacher, Dieter D; Wiesmüller, Lisa L; Schmidt, Gunnar G; Groß, Evi E; Gehrig, Andrea A; Sutter, Christian C; Ramser, Juliane J; Rump, Andreas A; Arnold, Norbert N; Meindl, Alfons A
Publication Date: 2020-04

Variant appearance in text: RAD51C: Gly264Ser
PubMed Link: 32322110
Variant Present in the following documents:
  • Main text
View BVdb publication page



Tumor sequencing is useful to refine the analysis of germline variants in unexplained high-risk breast cancer families.

Breast Cancer Research : Bcr
Van Marcke, Cédric C; Helaers, Raphaël R; De Leener, Anne A; Merhi, Ahmad A; Schoonjans, Céline A CA; Ambroise, Jérôme J; Galant, Christine C; Delrée, Paul P; Rothé, Françoise F; Bar, Isabelle I; Khoury, Elsa E; Brouillard, Pascal P; Canon, Jean-Luc JL; Vuylsteke, Peter P; Machiels, Jean-Pascal JP; Berlière, Martine M; Limaye, Nisha N; Vikkula, Miikka M; Duhoux, François P FP
Publication Date: 2020-04-15

Variant appearance in text: RAD51C: 790G>A; Gly264Ser; rs147241704
PubMed Link: 32295625
Variant Present in the following documents:
  • 13058_2020_1273_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Characterization of tumor mutation burden, PD-L1 and DNA repair genes to assess relationship to immune checkpoint inhibitors response in metastatic renal cell carcinoma.

Journal For Immunotherapy Of Cancer
Labriola, Matthew Kyle MK; Zhu, Jason J; Gupta, Rajan T RT; McCall, Shannon S; Jackson, Jennifer J; Kong, Eric F EF; White, James R JR; Cerqueira, Gustavo G; Gerding, Kelly K; Simmons, John K JK; George, Daniel D; Zhang, Tian T
Publication Date: 2020-03

Variant appearance in text: RAD51C: G264S
PubMed Link: 32221016
Variant Present in the following documents:
  • jitc-2019-000319supp001.xlsx, sheet 1
View BVdb publication page



Identifying sequence variants contributing to hereditary breast and ovarian cancer in BRCA1 and BRCA2 negative breast and ovarian cancer patients.

Scientific Reports
Jarhelle, Elisabeth E; Riise Stensland, Hilde Monica Frostad HMF; Hansen, Geir Åsmund Myge GÅM; Skarsfjord, Siri S; Jonsrud, Christoffer C; Ingebrigtsen, Monica M; Strømsvik, Nina N; Van Ghelue, Marijke M
Publication Date: 2019-12-27

Variant appearance in text: RAD51C: 790G>A; Gly264Ser; rs147241704
PubMed Link: 31882575
Variant Present in the following documents:
  • 41598_2019_55515_MOESM1_ESM.pdf
View BVdb publication page



Genomics of lethal prostate cancer at diagnosis and castration resistance.

The Journal Of Clinical Investigation
Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS
Publication Date: 2020-04-01

Variant appearance in text: RAD51C: 790G>A; G264S; rs147241704
PubMed Link: 31874108
Variant Present in the following documents:
  • jci-130-132031-s100.xlsx, sheet 1
View BVdb publication page



Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine
Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A
Publication Date: 2019-06-28

Variant appearance in text: RAD51C: G264S
PubMed Link: 31253177
Variant Present in the following documents:
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 15
View BVdb publication page



Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.

Bmc Cancer
Tsaousis, Georgios N GN; Papadopoulou, Eirini E; Apessos, Angela A; Agiannitopoulos, Konstantinos K; Pepe, Georgia G; Kampouri, Stavroula S; Diamantopoulos, Nikolaos N; Floros, Theofanis T; Iosifidou, Rodoniki R; Katopodi, Ourania O; Koumarianou, Anna A; Markopoulos, Christos C; Papazisis, Konstantinos K; Venizelos, Vasileios V; Xanthakis, Ioannis I; Xepapadakis, Grigorios G; Banu, Eugeniu E; Eniu, Dan Tudor DT; Negru, Serban S; Stanculeanu, Dana Lucia DL; Ungureanu, Andrei A; Ozmen, Vahit V; Tansan, Sualp S; Tekinel, Mehmet M; Yalcin, Suayib S; Nasioulas, George G
Publication Date: 2019-06-03

Variant appearance in text: RAD51C: 790G>A; Gly264Ser; rs147241704
PubMed Link: 31159747
Variant Present in the following documents:
  • 12885_2019_5756_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Exome sequencing in families with chronic central serous chorioretinopathy.

Molecular Genetics & Genomic Medicine
Schellevis, Rosa L RL; van Dijk, Elon H C EHC; Breukink, Myrte B MB; Keunen, Jan E E JEE; Santen, Gijs W E GWE; Hoyng, Carel B CB; de Jong, Eiko K EK; Boon, Camiel J F CJF; den Hollander, Anneke I AI
Publication Date: 2019-04

Variant appearance in text: RAD51C: G264S; rs147241704
PubMed Link: 30724488
Variant Present in the following documents:
  • MGG3-7-na-s005.xlsx, sheet 6
View BVdb publication page



Clinical Value of Pharmacogenomic Testing in a Patient Receiving FOLFIRINOX for Pancreatic Adenocarcinoma.

Frontiers In Pharmacology
Velez-Velez, Lisa M LM; Hughes, Caren L CL; Kasi, Pashtoon Murtaza PM
Publication Date: 2018

Variant appearance in text: RAD51C: 790G>A
PubMed Link: 30498448
Variant Present in the following documents:
  • Main text
View BVdb publication page



Spectrum and Prevalence of Pathogenic Variants in Ovarian Cancer Susceptibility Genes in a Group of 333 Patients.

Cancers
Koczkowska, Magdalena M; Krawczynska, Natalia N; Stukan, Maciej M; Kuzniacka, Alina A; Brozek, Izabela I; Sniadecki, Marcin M; Debniak, Jaroslaw J; Wydra, Dariusz D; Biernat, Wojciech W; Kozlowski, Piotr P; Limon, Janusz J; Wasag, Bartosz B; Ratajska, Magdalena M
Publication Date: 2018-11-14

Variant appearance in text: RAD51C: 790G>A; Gly264Ser; rs147241704
PubMed Link: 30441849
Variant Present in the following documents:
  • cancers-10-00442-s001.pdf
View BVdb publication page



Pancreatic cancer as a sentinel for hereditary cancer predisposition.

Bmc Cancer
Young, Erin L EL; Thompson, Bryony A BA; Neklason, Deborah W DW; Firpo, Matthew A MA; Werner, Theresa T; Bell, Russell R; Berger, Justin J; Fraser, Alison A; Gammon, Amanda A; Koptiuch, Cathryn C; Kohlmann, Wendy K WK; Neumayer, Leigh L; Goldgar, David E DE; Mulvihill, Sean J SJ; Cannon-Albright, Lisa A LA; Tavtigian, Sean V SV
Publication Date: 2018-06-27

Variant appearance in text: RAD51C: 790G>A; G264S
PubMed Link: 29945567
Variant Present in the following documents:
  • 12885_2018_4573_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Fanconi anemia and homologous recombination gene variants are associated with functional DNA repair defects in vitro and poor outcome in patients with advanced head and neck squamous cell carcinoma.

Oncotarget
Verhagen, Caroline V M CVM; Vossen, David M DM; Borgmann, Kerstin K; Hageman, Floor F; Grénman, Reidar R; Verwijs-Janssen, Manon M; Mout, Lisanne L; Kluin, Roel J C RJC; Nieuwland, Marja M; Severson, Tesa M TM; Velds, Arno A; Kerkhoven, Ron R; O'Connor, Mark J MJ; van der Heijden, Martijn M; van Velthuysen, Marie-Louise ML; Verheij, Marcel M; Wreesmann, Volkert B VB; Wessels, Lodewyk F A LFA; van den Brekel, Michiel W M MWM; Vens, Conchita C
Publication Date: 2018-04-06

Variant appearance in text: RAD51C: G264S
PubMed Link: 29719599
Variant Present in the following documents:
  • Main text
  • oncotarget-09-18198.pdf
View BVdb publication page



Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One
Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK
Publication Date: 2018

Variant appearance in text: RAD51C: 790G>A; Gly264Ser; rs147241704
PubMed Link: 29641532
Variant Present in the following documents:
  • pone.0194098.s003.xlsx, sheet 4
View BVdb publication page



Identification of genetic variants for clinical management of familial colorectal tumors.

Bmc Medical Genetics
Dominguez-Valentin, Mev M; Nakken, Sigve S; Tubeuf, Hélène H; Vodak, Daniel D; Ekstrøm, Per Olaf PO; Nissen, Anke M AM; Morak, Monika M; Holinski-Feder, Elke E; Martins, Alexandra A; Møller, Pål P; Hovig, Eivind E
Publication Date: 2018-02-20

Variant appearance in text: RAD51C: 790G>A; G264S; rs147241704
PubMed Link: 29458332
Variant Present in the following documents:
  • Main text
  • 12881_2018_Article_533.pdf
View BVdb publication page



Characterisation of the novel deleterious RAD51C p.Arg312Trp variant and prioritisation criteria for functional analysis of RAD51C missense changes.

British Journal Of Cancer
Gayarre, Javier J; Martín-Gimeno, Paloma P; Osorio, Ana A; Paumard, Beatriz B; Barroso, Alicia A; Fernández, Victoria V; de la Hoya, Miguel M; Rojo, Alejandro A; Caldés, Trinidad T; Palacios, José J; Urioste, Miguel M; Benítez, Javier J; García, María J MJ
Publication Date: 2017-09-26

Variant appearance in text: RAD51C: Gly264Ser; rs147241704
PubMed Link: 28829762
Variant Present in the following documents:
  • Main text
  • bjc2017286a.pdf
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: RAD51C: 790G>A; Gly264Ser
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Balmaña, Judith J; Digiovanni, Laura L; Gaddam, Pragna P; Walsh, Michael F MF; Joseph, Vijai V; Stadler, Zsofia K ZK; Nathanson, Katherine L KL; Garber, Judy E JE; Couch, Fergus J FJ; Offit, Kenneth K; Robson, Mark E ME; Domchek, Susan M SM
Publication Date: 2016-12

Variant appearance in text: RAD51C: 790G>A; Gly264Ser
PubMed Link: 27621404
Variant Present in the following documents:
  • Main text
  • JCO.2016.68.4316.pdf
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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: RAD51C: G264S
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s4.xls, sheet 1
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Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Tung, Nadine N; Lin, Nancy U NU; Kidd, John J; Allen, Brian A BA; Singh, Nanda N; Wenstrup, Richard J RJ; Hartman, Anne-Renee AR; Winer, Eric P EP; Garber, Judy E JE
Publication Date: 2016-05-01

Variant appearance in text: RAD51C: 790G>A; Gly264Ser
PubMed Link: 26976419
Variant Present in the following documents:
  • Main text
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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: FANCO: G264S; rs147241704
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
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Contribution of Germline Mutations in the RAD51B, RAD51C, and RAD51D Genes to Ovarian Cancer in the Population.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Song, Honglin H; Dicks, Ed E; Ramus, Susan J SJ; Tyrer, Jonathan P JP; Intermaggio, Maria P MP; Hayward, Jane J; Edlund, Christopher K CK; Conti, David D; Harrington, Patricia P; Fraser, Lindsay L; Philpott, Susan S; Anderson, Christopher C; Rosenthal, Adam A; Gentry-Maharaj, Aleksandra A; Bowtell, David D DD; Alsop, Kathryn K; Cicek, Mine S MS; Cunningham, Julie M JM; Fridley, Brooke L BL; Alsop, Jennifer J; Jimenez-Linan, Mercedes M; Høgdall, Estrid E; Høgdall, Claus K CK; Jensen, Allan A; Kjaer, Susanne Krüger SK; Lubiński, Jan J; Huzarski, Tomasz T; Jakubowska, Anna A; Gronwald, Jacek J; Poblete, Samantha S; Lele, Shashi S; Sucheston-Campbell, Lara L; Moysich, Kirsten B KB; Odunsi, Kunle K; Goode, Ellen L EL; Menon, Usha U; Jacobs, Ian J IJ; Gayther, Simon A SA; Pharoah, Paul D P PD
Publication Date: 2015-09-10

Variant appearance in text: RAD51C: G264S
PubMed Link: 26261251
Variant Present in the following documents:
  • Main text
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Clinical characteristics of ovarian cancer classified by BRCA1, BRCA2, and RAD51C status.

Scientific Reports
Cunningham, J M JM; Cicek, M S MS; Larson, N B NB; Davila, J J; Wang, C C; Larson, M C MC; Song, H H; Dicks, E M EM; Harrington, P P; Wick, M M; Winterhoff, B J BJ; Hamidi, H H; Konecny, G E GE; Chien, J J; Bibikova, M M; Fan, J-B JB; Kalli, K R KR; Lindor, N M NM; Fridley, B L BL; Pharoah, P P D PP; Goode, E L EL
Publication Date: 2014-02-07

Variant appearance in text: RAD51C: G264S
PubMed Link: 24504028
Variant Present in the following documents:
  • srep04026-s1.pdf
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Distinct roles of FANCO/RAD51C protein in DNA damage signaling and repair: implications for Fanconi anemia and breast cancer susceptibility.

The Journal Of Biological Chemistry
Somyajit, Kumar K; Subramanya, Shreelakshmi S; Nagaraju, Ganesh G
Publication Date: 2012-01-27

Variant appearance in text: RAD51C: G264S
PubMed Link: 22167183
Variant Present in the following documents:
  • Main text
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RAD51C: a novel cancer susceptibility gene is linked to Fanconi anemia and breast cancer.

Carcinogenesis
Somyajit, Kumar K; Subramanya, Shreelakshmi S; Nagaraju, Ganesh G
Publication Date: 2010-12

Variant appearance in text: RAD51C: G264S
PubMed Link: 20952512
Variant Present in the following documents:
  • Main text
  • bgq210.pdf
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