BRCA1 c.3839_3843delinsAGGC ;(p.S1280*)

Variant ID: 17-41243705-CTGAG-GCCT

NM_007294.3(BRCA1):c.3839_3843delinsAGGC;(p.S1280*)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


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: BRCA1: 3839_3843delinsAGGC
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 3
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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: BRCA1: 3839_3843delinsAGGC
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.

Plos One
Rao, Nandana D ND; Shirts, Brian H BH
Publication Date: 2023

Variant appearance in text: BRCA1: 3839_3843delinsAGGC
PubMed Link: 36753473
Variant Present in the following documents:
  • pone.0278010.s002.xlsx, sheet 1
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An Algorithm Combining Patient Performance Status, Second Hit Analysis, PROVEAN and Dann Prediction Tools Could Foretell Sensitization to PARP Inhibitors in Digestive, Skin, Ovarian and Breast Cancers.

Cancers
Chevrier, Sandy S; Richard, Corentin C; Collot, Thomas T; Mananet, Hugo H; Arnould, Laurent L; Boidot, Romain R
Publication Date: 2021-06-22

Variant appearance in text: BRCA1: 3839_3843delinsAGGC
PubMed Link: 34206535
Variant Present in the following documents:
  • Main text
  • cancers-13-03113.pdf
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Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Li, Hongyan H; LaDuca, Holly H; Pesaran, Tina T; Chao, Elizabeth C EC; Dolinsky, Jill S JS; Parsons, Michael M; Spurdle, Amanda B AB; Polley, Eric C EC; Shimelis, Hermela H; Hart, Steven N SN; Hu, Chunling C; Couch, Fergus J FJ; Goldgar, David E DE
Publication Date: 2020-04

Variant appearance in text: BRCA1: 3839_3843delCTCAGinsAGGC
PubMed Link: 31853058
Variant Present in the following documents:
  • 41436_2019_729_MOESM2_ESM.xls, sheet 1
View BVdb publication page



GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers.

Frontiers In Oncology
Lesueur, Fabienne F; Mebirouk, Noura N; Jiao, Yue Y; Barjhoux, Laure L; Belotti, Muriel M; Laurent, Maïté M; Léone, Mélanie M; Houdayer, Claude C; Bressac-de Paillerets, Brigitte B; Vaur, Dominique D; Sobol, Hagay H; Noguès, Catherine C; Longy, Michel M; Mortemousque, Isabelle I; Fert-Ferrer, Sandra S; Mouret-Fourme, Emmanuelle E; Pujol, Pascal P; Venat-Bouvet, Laurence L; Bignon, Yves-Jean YJ; Leroux, Dominique D; Coupier, Isabelle I; Berthet, Pascaline P; Mari, Véronique V; Delnatte, Capucine C; Gesta, Paul P; Collonge-Rame, Marie-Agnès MA; Giraud, Sophie S; Bonadona, Valérie V; Baurand, Amandine A; Faivre, Laurence L; Buecher, Bruno B; Lasset, Christine C; Gauthier-Villars, Marion M; Damiola, Francesca F; Mazoyer, Sylvie S; Caputo, Sandrine M SM; Andrieu, Nadine N; Stoppa-Lyonnet, Dominique D; ,
Publication Date: 2018

Variant appearance in text: BRCA1: 3839_3843delinsAGGC
PubMed Link: 30430080
Variant Present in the following documents:
  • Main text
  • fonc-08-00490.pdf
View BVdb publication page



Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

Human Mutation
Rebbeck, Timothy R TR; Friebel, Tara M TM; Friedman, Eitan E; Hamann, Ute U; Huo, Dezheng D; Kwong, Ava A; Olah, Edith E; Olopade, Olufunmilayo I OI; Solano, Angela R AR; Teo, Soo-Hwang SH; Thomassen, Mads M; Weitzel, Jeffrey N JN; Chan, T L TL; Couch, Fergus J FJ; Goldgar, David E DE; Kruse, Torben A TA; Palmero, Edenir Inêz EI; Park, Sue Kyung SK; Torres, Diana D; van Rensburg, Elizabeth J EJ; McGuffog, Lesley L; Parsons, Michael T MT; Leslie, Goska G; Aalfs, Cora M CM; Abugattas, Julio J; Adlard, Julian J; Agata, Simona S; Aittomäki, Kristiina K; Andrews, Lesley L; Andrulis, Irene L IL; Arason, Adalgeir A; Arnold, Norbert N; Arun, Banu K BK; Asseryanis, Ella E; Auerbach, Leo L; Azzollini, Jacopo J; Balmaña, Judith J; Barile, Monica M; Barkardottir, Rosa B RB; Barrowdale, Daniel D; Benitez, Javier J; Berger, Andreas A; Berger, Raanan R; Blanco, Amie M AM; Blazer, Kathleen R KR; Blok, Marinus J MJ; Bonadona, Valérie V; Bonanni, Bernardo B; Bradbury, Angela R AR; Brewer, Carole C; Buecher, Bruno B; Buys, Saundra S SS; Caldes, Trinidad T; Caliebe, Almuth A; Caligo, Maria A MA; Campbell, Ian I; Caputo, Sandrine M SM; Chiquette, Jocelyne J; Chung, Wendy K WK; Claes, Kathleen B M KBM; Collée, J Margriet JM; Cook, Jackie J; Davidson, Rosemarie R; de la Hoya, Miguel M; De Leeneer, Kim K; de Pauw, Antoine A; Delnatte, Capucine C; Diez, Orland O; Ding, Yuan Chun YC; Ditsch, Nina N; Domchek, Susan M SM; Dorfling, Cecilia M CM; Velazquez, Carolina C; Dworniczak, Bernd B; Eason, Jacqueline J; Easton, Douglas F DF; Eeles, Ros R; Ehrencrona, Hans H; Ejlertsen, Bent B; , ; Engel, Christoph C; Engert, Stefanie S; Evans, D Gareth DG; Faivre, Laurence L; Feliubadaló, Lidia L; Ferrer, Sandra Fert SF; Foretova, Lenka L; Fowler, Jeffrey J; Frost, Debra D; Galvão, Henrique C R HCR; Ganz, Patricia A PA; Garber, Judy J; Gauthier-Villars, Marion M; Gehrig, Andrea A; , ; Gerdes, Anne-Marie AM; Gesta, Paul P; Giannini, Giuseppe G; Giraud, Sophie S; Glendon, Gord G; Godwin, Andrew K AK; Greene, Mark H MH; Gronwald, Jacek J; Gutierrez-Barrera, Angelica A; Hahnen, Eric E; Hauke, Jan J; , ; Henderson, Alex A; Hentschel, Julia J; Hogervorst, Frans B L FBL; Honisch, Ellen E; Imyanitov, Evgeny N EN; Isaacs, Claudine C; Izatt, Louise L; Izquierdo, Angel A; Jakubowska, Anna A; James, Paul P; Janavicius, Ramunas R; Jensen, Uffe Birk UB; John, Esther M EM; Vijai, Joseph J; Kaczmarek, Katarzyna K; Karlan, Beth Y BY; Kast, Karin K; Investigators, KConFab K; Kim, Sung-Won SW; Konstantopoulou, Irene I; Korach, Jacob J; Laitman, Yael Y; Lasa, Adriana A; Lasset, Christine C; Lázaro, Conxi C; Lee, Annette A; Lee, Min Hyuk MH; Lester, Jenny J; Lesueur, Fabienne F; Liljegren, Annelie A; Lindor, Noralane M NM; Longy, Michel M; Loud, Jennifer T JT; Lu, Karen H KH; Lubinski, Jan J; Machackova, Eva E; Manoukian, Siranoush S; Mari, Véronique V; Martínez-Bouzas, Cristina C; Matrai, Zoltan Z; Mebirouk, Noura N; Meijers-Heijboer, Hanne E J HEJ; Meindl, Alfons A; Mensenkamp, Arjen R AR; Mickys, Ugnius U; Miller, Austin A; Montagna, Marco M; Moysich, Kirsten B KB; Mulligan, Anna Marie AM; Musinsky, Jacob J; Neuhausen, Susan L SL; Nevanlinna, Heli H; Ngeow, Joanne J; Nguyen, Huu Phuc HP; Niederacher, Dieter D; Nielsen, Henriette Roed HR; Nielsen, Finn Cilius FC; Nussbaum, Robert L RL; Offit, Kenneth K; Öfverholm, Anna A; Ong, Kai-Ren KR; Osorio, Ana A; Papi, Laura L; Papp, Janos J; Pasini, Barbara B; Pedersen, Inge Sokilde IS; Peixoto, Ana A; Peruga, Nina N; Peterlongo, Paolo P; Pohl, Esther E; Pradhan, Nisha N; Prajzendanc, Karolina K; Prieur, Fabienne F; Pujol, Pascal P; Radice, Paolo P; Ramus, Susan J SJ; Rantala, Johanna J; Rashid, Muhammad Usman MU; Rhiem, Kerstin K; Robson, Mark M; Rodriguez, Gustavo C GC; Rogers, Mark T MT; Rudaitis, Vilius V; Schmidt, Ane Y AY; Schmutzler, Rita Katharina RK; Senter, Leigha L; Shah, Payal D PD; Sharma, Priyanka P; Side, Lucy E LE; Simard, Jacques J; Singer, Christian F CF; Skytte, Anne-Bine AB; Slavin, Thomas P TP; Snape, Katie K; Sobol, Hagay H; Southey, Melissa M; Steele, Linda L; Steinemann, Doris D; Sukiennicki, Grzegorz G; Sutter, Christian C; Szabo, Csilla I CI; Tan, Yen Y YY; Teixeira, Manuel R MR; Terry, Mary Beth MB; Teulé, Alex A; Thomas, Abigail A; Thull, Darcy L DL; Tischkowitz, Marc M; Tognazzo, Silvia S; Toland, Amanda Ewart AE; Topka, Sabine S; Trainer, Alison H AH; Tung, Nadine N; van Asperen, Christi J CJ; van der Hout, Annemieke H AH; van der Kolk, Lizet E LE; van der Luijt, Rob B RB; Van Heetvelde, Mattias M; Varesco, Liliana L; Varon-Mateeva, Raymonda R; Vega, Ana A; Villarreal-Garza, Cynthia C; von Wachenfeldt, Anna A; Walker, Lisa L; Wang-Gohrke, Shan S; Wappenschmidt, Barbara B; Weber, Bernhard H F BHF; Yannoukakos, Drakoulis D; Yoon, Sook-Yee SY; Zanzottera, Cristina C; Zidan, Jamal J; Zorn, Kristin K KK; Hutten Selkirk, Christina G CG; Hulick, Peter J PJ; Chenevix-Trench, Georgia G; Spurdle, Amanda B AB; Antoniou, Antonis C AC; Nathanson, Katherine L KL
Publication Date: 2018-05

Variant appearance in text: BRCA1: 3839_3843delinsAGGC
PubMed Link: 29446198
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations.

Biological Research
Jara, Lilian L; Morales, Sebastian S; de Mayo, Tomas T; Gonzalez-Hormazabal, Patricio P; Carrasco, Valentina V; Godoy, Raul R
Publication Date: 2017-10-06

Variant appearance in text: BRCA1: 3839_3843delCTCAGinsAGGC
PubMed Link: 28985766
Variant Present in the following documents:
  • 40659_2017_139_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers.

European Journal Of Human Genetics : Ejhg
Walker, Logan C LC; Marquart, Louise L; Pearson, John F JF; Wiggins, George A R GA; O'Mara, Tracy A TA; Parsons, Michael T MT; , ; Barrowdale, Daniel D; McGuffog, Lesley L; Dennis, Joe J; Benitez, Javier J; Slavin, Thomas P TP; Radice, Paolo P; Frost, Debra D; , ; Godwin, Andrew K AK; Meindl, Alfons A; Schmutzler, Rita Katharina RK; , ; Isaacs, Claudine C; Peshkin, Beth N BN; Caldes, Trinidad T; Hogervorst, Frans Bl FB; , ; Lazaro, Conxi C; Jakubowska, Anna A; Montagna, Marco M; , ; Chen, Xiaoqing X; Offit, Kenneth K; Hulick, Peter J PJ; Andrulis, Irene L IL; Lindblom, Annika A; Nussbaum, Robert L RL; Nathanson, Katherine L KL; Chenevix-Trench, Georgia G; Antoniou, Antonis C AC; Couch, Fergus J FJ; Spurdle, Amanda B AB
Publication Date: 2017-04

Variant appearance in text: BRCA1: 3839_3843delinsAGGC
PubMed Link: 28145423
Variant Present in the following documents:
  • ejhg2016203x2.xls, sheet 1
View BVdb publication page



Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control.

The Epma Journal
Janavičius, Ramūnas R
Publication Date: 2010-09

Variant appearance in text: BRCA1: 3839_3843delinsAGGC
PubMed Link: 23199084
Variant Present in the following documents:
  • Main text
  • 13167_2010_Article_37.pdf
View BVdb publication page