BRCA1 c.3759_3760del ;(p.K1254Efs*12)

Variant ID: 17-41243788-TTA-T

NM_007294.3(BRCA1):c.3759_3760del;(p.K1254Efs*12)

This variant was identified in 20 publications

View GRCh38 version.




Publications:


BRCA germline mutations in multiethnic gynecologic patients: A 10-year retrospective analysis from a single cancer institute.

Plos One
Wei, Christina H CH; Shehayeb, Susan S; Santiago, Nicole Lugo NL; Kruper, Laura L; Han, Ernest E; Wang, Edward E; Cristea, Mihaela M; Rodriguez-Rodriguez, Lorna L; Yost, Susan E SE; Stewart, Daphne D
Publication Date: 2023

Variant appearance in text: BRCA1: 3759_3760del
PubMed Link: 37310942
Variant Present in the following documents:
  • pone.0286998.s001.pdf
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Pathogenic variant profile in DNA damage response genes correlates with metastatic breast cancer progression-free survival in a Mexican-mestizo population.

Frontiers In Oncology
Vázquez-Romo, Rafael R; Millan-Catalan, Oliver O; Ruíz-García, Erika E; Martínez-Gutiérrez, Antonio D AD; Alvarado-Miranda, Alberto A; Campos-Parra, Alma D AD; López-Camarillo, César C; Jacobo-Herrera, Nadia N; López-Urrutia, Eduardo E; Guardado-Estrada, Mariano M; Cantú de León, David D; Pérez-Plasencia, Carlos C
Publication Date: 2023

Variant appearance in text: BRCA1: 3759_3760delTA
PubMed Link: 37182128
Variant Present in the following documents:
  • Main text
  • Table_2.xlsx, sheet 1
  • fonc-13-1146008.pdf
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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: 3759_3760del; Lys1254fs; rs80357520
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
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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: 3759_3760del; Lys1254fs
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: 3759_3760del
PubMed Link: 36753473
Variant Present in the following documents:
  • pone.0278010.s002.xlsx, sheet 1
View BVdb publication page



Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.

International Journal Of Cancer
Qin, Zixin Z; Li, Jiaheng J; Tam, Benjamin B; Sinha, Siddharth S; Zhao, Bojin B; Bhaskaran, Shanmuga Priya SP; Huang, Teng T; Wu, Xiaobing X; Chian, Jia Sheng JS; Guo, Maoni M; Kou, Si Hoi SH; Lei, Huijun H; Zhang, Li L; Wang, Xiaoyu X; Lagniton, Philip Naderev P PNP; Xiao, Fengxia F; Jiang, Xinyang X; Wang, San Ming SM
Publication Date: 2022-11-17

Variant appearance in text: BRCA1: 3759_3760del; Lys1254Glufs*12; rs80357520
PubMed Link: 36385461
Variant Present in the following documents:
  • IJC-152-1159-s010.xlsx, sheet 4
  • IJC-152-1159-s006.xlsx, sheet 2
  • IJC-152-1159-s010.xlsx, sheet 3
  • IJC-152-1159-s002.xlsx, sheet 1
  • IJC-152-1159-s011.xlsx, sheet 1
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Clinical Benefits of Olaparib in Mexican Ovarian Cancer Patients With Founder Mutation BRCA1-Del ex9-12.

Frontiers In Genetics
Gallardo-Rincón, Dolores D; Montes-Servín, Edgar E; Alamilla-García, Gabriela G; Montes-Servín, Elizabeth E; Bahena-González, Antonio A; Cetina-Pérez, Lucely L; Morales Vásquez, Flavia F; Cano-Blanco, Claudia C; Coronel-Martínez, Jaime J; González-Ibarra, Ernesto E; Espinosa-Romero, Raquel R; María Alvarez-Gómez, Rosa R; Pedroza-Torres, Abraham A; Castro-Eguiluz, Denisse D
Publication Date: 2022

Variant appearance in text: BRCA1: 3759_3760del; Lys1254fs
PubMed Link: 35734436
Variant Present in the following documents:
  • Main text
  • fgene-13-863956.pdf
View BVdb publication page



Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update.

European Journal Of Human Genetics : Ejhg
McGuigan, Anthony A; Whitworth, James J; Andreou, Avgi A; Hearn, Timothy T; , ; Tischkowitz, Marc M; Maher, Eamonn R ER
Publication Date: 2022-03

Variant appearance in text: BRCA1: 3759_3760delTA; Lys1254fs
PubMed Link: 34983940
Variant Present in the following documents:
  • 41431_2021_1013_MOESM1_ESM.pdf
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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: BRCA1: 3759_3760delTA; Lys1254Glufs; rs80357520
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



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: 3759_3760delTA
PubMed Link: 31853058
Variant Present in the following documents:
  • 41436_2019_729_MOESM2_ESM.xls, sheet 1
View BVdb publication page



A Multi-Center Study of BRCA1 and BRCA2 Germline Mutations in Mexican-Mestizo Breast Cancer Families Reveals Mutations Unreported in Latin American Population.

Cancers
Millan Catalan, Oliver O; Campos-Parra, Alma D AD; Vázquez-Romo, Rafael R; Cantú de León, David D; Jacobo-Herrera, Nadia N; Morales-González, Fermín F; López-Camarillo, César C; Rodríguez-Dorantes, Mauricio M; López-Urrutia, Eduardo E; Pérez-Plasencia, Carlos C
Publication Date: 2019-08-26

Variant appearance in text: BRCA1: 3759_3760delTA; Lys1254Glufs; rs80357520
PubMed Link: 31454914
Variant Present in the following documents:
  • Main text
  • cancers-11-01246.pdf
View BVdb publication page



Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.

International Journal Of Cancer
Bhaskaran, Shanmuga Priya SP; Chandratre, Khyati K; Gupta, Hemant H; Zhang, Li L; Wang, Xiaoyu X; Cui, Jian J; Kim, Yeong C YC; Sinha, Siddharth S; Jiang, Luhan L; Lu, Boya B; Wu, Xiaobing X; Qin, Zixin Z; Huang, Teng T; Wang, San Ming SM
Publication Date: 2019-08-15

Variant appearance in text: BRCA1: 3759_3760delTA
PubMed Link: 30702160
Variant Present in the following documents:
  • IJC-145-962-s007.xlsx, sheet 3
View BVdb publication page



Population and breast cancer patients' analysis reveals the diversity of genomic variation of the BRCA genes in the Mexican population.

Human Genomics
Fernández-Lopez, J C JC; Romero-Córdoba, S S; Rebollar-Vega, R R; Alfaro-Ruiz, L A LA; Jiménez-Morales, S S; Beltrán-Anaya, F F; Arellano-Llamas, R R; Cedro-Tanda, A A; Rios-Romero, M M; Ramirez-Florencio, M M; Bautista-Piña, V V; Dominguez-Reyes, C C; Villegas-Carlos, F F; Tenorio-Torres, A A; Hidalgo-Miranda, A A
Publication Date: 2019-01-10

Variant appearance in text: BRCA1: 3759_3760delTA; rs80357520
PubMed Link: 30630528
Variant Present in the following documents:
  • Main text
  • 40246_2018_Article_188.pdf
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: 3759_3760delTA
PubMed Link: 28985766
Variant Present in the following documents:
  • Main text
  • 40659_2017_Article_139.pdf
  • 40659_2017_139_MOESM1_ESM.xlsx, sheet 1
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: BRCA1: 3759_3760delTA; Lys1254Glufs
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines.

Hereditary Cancer In Clinical Practice
Cruz-Correa, Marcia M; Pérez-Mayoral, Julyann J; Dutil, Julie J; Echenique, Miguel M; Mosquera, Rafael R; Rivera-Román, Keila K; Umpierre, Sharee S; Rodriguez-Quilichini, Segundo S; Gonzalez-Pons, Maria M; Olivera, Myrta I MI; Pardo, Sherly S; ,
Publication Date: 2017

Variant appearance in text: BRCA1: 3759_3760delTA; Lys1254Glufs*12
PubMed Link: 28127413
Variant Present in the following documents:
  • Main text
  • 13053_2017_Article_63.pdf
View BVdb publication page



Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women.

Breast Cancer Research : Bcr
Rebbeck, Timothy R TR; Friebel, Tara M TM; Mitra, Nandita N; Wan, Fei F; Chen, Stephanie S; Andrulis, Irene L IL; Apostolou, Paraskevi P; Arnold, Norbert N; Arun, Banu K BK; Barrowdale, Daniel D; Benitez, Javier J; Berger, Raanan R; Berthet, Pascaline P; Borg, Ake A; Buys, Saundra S SS; Caldes, Trinidad T; Carter, Jonathan J; Chiquette, Jocelyne J; Claes, Kathleen B M KB; Couch, Fergus J FJ; Cybulski, Cezary C; Daly, Mary B MB; de la Hoya, Miguel M; Diez, Orland O; Domchek, Susan M SM; Nathanson, Katherine L KL; Durda, Katarzyna K; Ellis, Steve S; , ; Evans, D Gareth DG; Foretova, Lenka L; Friedman, Eitan E; Frost, Debra D; Ganz, Patricia A PA; Garber, Judy J; Glendon, Gord G; Godwin, Andrew K AK; Greene, Mark H MH; Gronwald, Jacek J; Hahnen, Eric E; Hallberg, Emily E; Hamann, Ute U; Hansen, Thomas V O TV; , ; Imyanitov, Evgeny N EN; Isaacs, Claudine C; Jakubowska, Anna A; Janavicius, Ramunas R; Jaworska-Bieniek, Katarzyna K; John, Esther M EM; Karlan, Beth Y BY; Kaufman, Bella B; Investigators, KConFab K; Kwong, Ava A; Laitman, Yael Y; Lasset, Christine C; Lazaro, Conxi C; Lester, Jenny J; Loman, Niklas N; Lubinski, Jan J; Manoukian, Siranoush S; Mitchell, Gillian G; Montagna, Marco M; Neuhausen, Susan L SL; Nevanlinna, Heli H; Niederacher, Dieter D; Nussbaum, Robert L RL; Offit, Kenneth K; Olah, Edith E; Olopade, Olufunmilayo I OI; Park, Sue Kyung SK; Piedmonte, Marion M; Radice, Paolo P; Rappaport-Fuerhauser, Christine C; Rookus, Matti A MA; Seynaeve, Caroline C; Simard, Jacques J; Singer, Christian F CF; Soucy, Penny P; Southey, Melissa M; Stoppa-Lyonnet, Dominique D; Sukiennicki, Grzegorz G; Szabo, Csilla I CI; Tancredi, Mariella M; Teixeira, Manuel R MR; Teo, Soo-Hwang SH; Terry, Mary Beth MB; Thomassen, Mads M; Tihomirova, Laima L; Tischkowitz, Marc M; Toland, Amanda Ewart AE; Toloczko-Grabarek, Aleksandra A; Tung, Nadine N; van Rensburg, Elizabeth J EJ; Villano, Danylo D; Wang-Gohrke, Shan S; Wappenschmidt, Barbara B; Weitzel, Jeffrey N JN; Zidan, Jamal J; Zorn, Kristin K KK; McGuffog, Lesley L; Easton, Douglas D; Chenevix-Trench, Georgia G; Antoniou, Antonis C AC; Ramus, Susan J SJ
Publication Date: 2016-11-11

Variant appearance in text: BRCA1: 3759_3760delTA
PubMed Link: 27836010
Variant Present in the following documents:
  • Main text
  • 13058_2016_Article_768.pdf
View BVdb publication page



The spectrum of BRCA1 and BRCA2 alleles in Latin America and the Caribbean: a clinical perspective.

Breast Cancer Research And Treatment
Dutil, Julie J; Golubeva, Volha A VA; Pacheco-Torres, Alba L AL; Diaz-Zabala, Hector J HJ; Matta, Jaime L JL; Monteiro, Alvaro N AN
Publication Date: 2015-12

Variant appearance in text: BRCA1: 3759_3760delTA; rs80357520
PubMed Link: 26564481
Variant Present in the following documents:
  • 10549_2015_3629_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from Peru.

Clinical Genetics
Abugattas, J J; Llacuachaqui, M M; Allende, Y Sullcahuaman YS; Velásquez, A Arias AA; Velarde, R R; Cotrina, J J; Garcés, M M; León, M M; Calderón, G G; de la Cruz, M M; Mora, P P; Royer, R R; Herzog, J J; Weitzel, J N JN; Narod, S A SA
Publication Date: 2015-10

Variant appearance in text: BRCA1: 3759_3760delTA
PubMed Link: 25256238
Variant Present in the following documents:
  • Main text
View BVdb publication page