BRCA1 c.4117G>T ;(p.E1373*)

Variant ID: 17-41243029-C-A

NM_007294.3(BRCA1):c.4117G>T;(p.E1373*)

This variant was identified in 37 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: 4117G>T; E1373*; rs80357259
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



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: 4117G>T; Glu1373Ter
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: 4117G>T
PubMed Link: 36753473
Variant Present in the following documents:
  • pone.0278010.s002.xlsx, sheet 1
View BVdb publication page



Prevalence and clinical implications of germline mutations among Jordanian patients with ovarian cancer. The Jordanian exploratory cancer genetics (Jo-ECAG) ovarian study.

Molecular Genetics & Genomic Medicine
Abdel-Razeq, Hikmat H; Al-Azzam, Khansa K; Elemian, Shatha S; Abu-Fares, Hala H; Abu Sheikha, Areej A; Bani Hani, Hira H; Bater, Rayan R; Sharaf, Baha' B; Heald, Brandie B; Esplin, Edward D ED; Nielsen, Sarah M SM; Alkyam, Mais M; Abujamous, Lama L; Al-Attary, Areej A
Publication Date: 2022-12-19

Variant appearance in text: BRCA1: 4117G>T; Glu1373*
PubMed Link: 36537080
Variant Present in the following documents:
  • Main text
  • MGG3-11-e2125.pdf
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: 4117G>T; Glu1373*; rs80357259
PubMed Link: 36385461
Variant Present in the following documents:
  • IJC-152-1159-s006.xlsx, sheet 2
  • IJC-152-1159-s010.xlsx, sheet 1
  • IJC-152-1159-s010.xlsx, sheet 6
  • IJC-152-1159-s002.xlsx, sheet 1
  • IJC-152-1159-s011.xlsx, sheet 1
View BVdb publication page



BRCA Mutation Status in Triple-Negative Breast Cancer Patients Treated with Neoadjuvant Chemotherapy: A Pivotal Role for Treatment Decision-Making.

Cancers
Pavese, Francesco F; Capoluongo, Ettore Domenico ED; Muratore, Margherita M; Minucci, Angelo A; Santonocito, Concetta C; Fuso, Paola P; Concolino, Paola P; Di Stasio, Enrico E; Carbognin, Luisa L; Tiberi, Giordana G; Garganese, Giorgia G; Corrado, Giacomo G; Di Leone, Alba A; Generali, Daniele D; Fragomeni, Simona Maria SM; D'Angelo, Tatiana T; Franceschini, Gianluca G; Masetti, Riccardo R; Fabi, Alessandra A; Mulè, Antonino A; Santoro, Angela A; Belli, Paolo P; Tortora, Giampaolo G; Scambia, Giovanni G; Paris, Ida I
Publication Date: 2022-09-21

Variant appearance in text: BRCA1: 4117G>T; Glu1373Ter; rs80357259
PubMed Link: 36230495
Variant Present in the following documents:
  • cancers-14-04571.pdf
View BVdb publication page



Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.

Communications Biology
Hakkaart, Christopher C; Pearson, John F JF; Marquart, Louise L; Dennis, Joe J; Wiggins, George A R GAR; Barnes, Daniel R DR; Robinson, Bridget A BA; Mace, Peter D PD; Aittomäki, Kristiina K; Andrulis, Irene L IL; Arun, Banu K BK; Azzollini, Jacopo J; Balmaña, Judith J; Barkardottir, Rosa B RB; Belhadj, Sami S; Berger, Lieke L; Blok, Marinus J MJ; Boonen, Susanne E SE; Borde, Julika J; Bradbury, Angela R AR; Brunet, Joan J; Buys, Saundra S SS; Caligo, Maria A MA; Campbell, Ian I; Chung, Wendy K WK; Claes, Kathleen B M KBM; , ; , ; Collonge-Rame, Marie-Agnès MA; Cook, Jackie J; Cosgrove, Casey C; Couch, Fergus J FJ; Daly, Mary B MB; Dandiker, Sita S; Davidson, Rosemarie R; de la Hoya, Miguel M; de Putter, Robin R; Delnatte, Capucine C; Dhawan, Mallika M; Diez, Orland O; Ding, Yuan Chun YC; Domchek, Susan M SM; Donaldson, Alan A; Eason, Jacqueline J; Easton, Douglas F DF; Ehrencrona, Hans H; Engel, Christoph C; Evans, D Gareth DG; Faust, Ulrike U; Feliubadaló, Lidia L; Fostira, Florentia F; Friedman, Eitan E; Frone, Megan M; Frost, Debra D; Garber, Judy J; Gayther, Simon A SA; Gehrig, Andrea A; Gesta, Paul P; Godwin, Andrew K AK; Goldgar, David E DE; Greene, Mark H MH; Hahnen, Eric E; Hake, Christopher R CR; Hamann, Ute U; Hansen, Thomas V O TVO; Hauke, Jan J; Hentschel, Julia J; Herold, Natalie N; Honisch, Ellen E; Hulick, Peter J PJ; Imyanitov, Evgeny N EN; , ; , ; , ; Isaacs, Claudine C; Izatt, Louise L; Izquierdo, Angel A; Jakubowska, Anna A; James, Paul A PA; Janavicius, Ramunas R; John, Esther M EM; Joseph, Vijai V; Karlan, Beth Y BY; Kemp, Zoe Z; Kirk, Judy J; Konstantopoulou, Irene I; Koudijs, Marco M; Kwong, Ava A; Laitman, Yael Y; Lalloo, Fiona F; Lasset, Christine C; Lautrup, Charlotte C; Lazaro, Conxi C; Legrand, Clémentine C; Leslie, Goska G; Lesueur, Fabienne F; Mai, Phuong L PL; Manoukian, Siranoush S; Mari, Véronique V; Martens, John W M JWM; McGuffog, Lesley L; Mebirouk, Noura N; Meindl, Alfons A; Miller, Austin A; Montagna, Marco M; Moserle, Lidia L; Mouret-Fourme, Emmanuelle E; Musgrave, Hannah H; Nambot, Sophie S; Nathanson, Katherine L KL; Neuhausen, Susan L SL; Nevanlinna, Heli H; Yie, Joanne Ngeow Yuen JNY; Nguyen-Dumont, Tu T; Nikitina-Zake, Liene L; Offit, Kenneth K; Olah, Edith E; Olopade, Olufunmilayo I OI; Osorio, Ana A; Ott, Claus-Eric CE; Park, Sue K SK; Parsons, Michael T MT; Pedersen, Inge Sokilde IS; Peixoto, Ana A; Perez-Segura, Pedro P; Peterlongo, Paolo P; Pocza, Timea T; Radice, Paolo P; Ramser, Juliane J; Rantala, Johanna J; Rodriguez, Gustavo C GC; Rønlund, Karina K; Rosenberg, Efraim H EH; Rossing, Maria M; Schmutzler, Rita K RK; Shah, Payal D PD; Sharif, Saba S; Sharma, Priyanka P; Side, Lucy E LE; Simard, Jacques J; Singer, Christian F CF; Snape, Katie K; Steinemann, Doris D; Stoppa-Lyonnet, Dominique D; Sutter, Christian C; Tan, Yen Yen YY; Teixeira, Manuel R MR; Teo, Soo Hwang SH; Thomassen, Mads M; Thull, Darcy L DL; Tischkowitz, Marc M; Toland, Amanda E AE; Trainer, Alison H AH; Tripathi, Vishakha V; Tung, Nadine N; van Engelen, Klaartje K; van Rensburg, Elizabeth J EJ; Vega, Ana A; Viel, Alessandra A; Walker, Lisa L; Weitzel, Jeffrey N JN; Wevers, Marike R MR; Chenevix-Trench, Georgia G; Spurdle, Amanda B AB; Antoniou, Antonis C AC; Walker, Logan C LC
Publication Date: 2022-10-06

Variant appearance in text: BRCA1: 4117G>T; Glu1373X
PubMed Link: 36203093
Variant Present in the following documents:
  • 42003_2022_3978_MOESM4_ESM.xlsx, sheet 14
View BVdb publication page



Mutational Analysis of BRCA1 and BRCA2 Genes in Breast Cancer Patients from Eastern Sicily.

Cancer Management And Research
Stella, Stefania S; Vitale, Silvia Rita SR; Martorana, Federica F; Massimino, Michele M; Pavone, Giuliana G; Lanzafame, Katia K; Bianca, Sebastiano S; Barone, Chiara C; Gorgone, Cristina C; Fichera, Marco M; Manzella, Livia L
Publication Date: 2022

Variant appearance in text: BRCA1: 4117G>T; Glu1373Ter
PubMed Link: 35411189
Variant Present in the following documents:
  • Main text
  • cmar-14-1341.pdf
View BVdb publication page



Landscape of homologous recombination deficiencies in solid tumours: analyses of two independent genomic datasets.

Bmc Cancer
Lai, Zhongwu Z; Brosnan, Matthew M; Sokol, Ethan S ES; Xie, Mingchao M; Dry, Jonathan R JR; Harrington, Elizabeth A EA; Barrett, J Carl JC; Hodgson, Darren D
Publication Date: 2022-01-03

Variant appearance in text: BRCA1: E1373*
PubMed Link: 34979999
Variant Present in the following documents:
  • 12885_2021_9082_MOESM1_ESM.pdf
View BVdb publication page



Association of Inherited Mutations in DNA Repair Genes with Localized Prostate Cancer.

European Urology
Lee, Daniel J DJ; Hausler, Ryan R; Le, Anh N AN; Kelly, Gregory G; Powers, Jacquelyn J; Ding, James J; Feld, Emily E; Desai, Heena H; Morrison, Casey C; Doucette, Abigail A; Gabriel, Peter P; Genetics Center, Regeneron R; Judy, Renae L RL; Weaver, Joellen J; Kember, Rachel R; Damrauer, Scott M SM; Rader, Daniel J DJ; Domchek, Susan M SM; Narayan, Vivek V; Schwartz, Lauren E LE; Maxwell, Kara N KN
Publication Date: 2022-06

Variant appearance in text: BRCA1: E1373X
PubMed Link: 34711450
Variant Present in the following documents:
  • NIHMS1772233-supplement-Supplementary_Tables.xlsx, sheet 3
View BVdb publication page



Prevalence and clinical characterization of BRCA1 and BRCA2 mutations in Korean patients with epithelial ovarian cancer.

Cancer Science
Paik, E Sun ES; Heo, Eun Jin EJ; Choi, Chel Hun CH; Kim, Jae-Hoon JH; Kim, Jae-Weon JW; Kim, Yong-Man YM; Park, Sang-Yoon SY; Lee, Jeong-Won JW; Kim, Jong-Won JW; Kim, Byoung-Gie BG
Publication Date: 2021-12

Variant appearance in text: BRCA1: 4117G>T; E1373X
PubMed Link: 34657357
Variant Present in the following documents:
  • Main text
  • CAS-112-5055.pdf
View BVdb publication page



Prevalence and clinical characterization of BRCA1 and BRCA2 mutations in Korean patients with epithelial ovarian cancer.

Cancer Science
Paik, E Sun ES; Heo, Eun Jin EJ; Choi, Chel Hun CH; Kim, Jae-Hoon JH; Kim, Jae-Weon JW; Kim, Yong-Man YM; Park, Sang-Yoon SY; Lee, Jeong-Won JW; Kim, Jong-Won JW; Kim, Byoung-Gie BG
Publication Date: 2021-12

Variant appearance in text: BRCA1: 4117G>T; E1373X
PubMed Link: 34657357
Variant Present in the following documents:
  • Main text
  • CAS-112-5055.pdf
View BVdb publication page



Prevalence and predictors of germline BRCA1 and BRCA2 mutations among young patients with breast cancer in Jordan.

Scientific Reports
Abdel-Razeq, Hikmat H; Abujamous, Lama L; Abunasser, Mahmoud M; Edaily, Sara S; Bater, Rayan R
Publication Date: 2021-07-21

Variant appearance in text: BRCA1: 4117G>T; Glu1373Ter
PubMed Link: 34290354
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_94403.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: BRCA1: 4117G>T; Glu1373Ter; rs80357259
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



Pancreatic mucinous cystadenocarcinoma in a patient harbouring BRCA1 germline mutation effectively treated with olaparib: A case report.

World Journal Of Gastrointestinal Oncology
Di Marco, Mariacristina M; Carloni, Riccardo R; De Lorenzo, Stefania S; Mosconi, Cristina C; Palloni, Andrea A; Grassi, Elisa E; Filippini, Daria Maria DM; Ricci, Angela Dalia AD; Rizzo, Alessandro A; Di Federico, Alessandro A; Santini, Donatella D; Turchetti, Daniela D; Ricci, Claudio C; Ingaldi, Carlo C; Alberici, Laura L; Minni, Francesco F; Golfieri, Rita R; Brandi, Giovanni G; Casadei, Riccardo R
Publication Date: 2020-12-15

Variant appearance in text: BRCA1: 4117G>T; Glu1373Ter
PubMed Link: 33362915
Variant Present in the following documents:
  • Main text
View BVdb publication page



Relationship between MUTYH, OGG1 and BRCA1 mutations and mRNA expression in breast and ovarian cancer predisposition.

Molecular And Clinical Oncology
Moscatello, Carmelo C; Di Nicola, Marta M; Veschi, Serena S; Di Gregorio, Patrizia P; Cianchetti, Ettore E; Stuppia, Liborio L; Battista, Pasquale P; Cama, Alessandro A; Curia, Maria Cristina MC; Aceto, Gitana Maria GM
Publication Date: 2021-01

Variant appearance in text: BRCA1: E1373X
PubMed Link: 33343895
Variant Present in the following documents:
  • Main text
  • Supplementary_Data.pdf
  • mco-14-01-02177.pdf
View BVdb publication page



Prevalence and Spectrum of BRCA Germline Variants in Central Italian High Risk or Familial Breast/Ovarian Cancer Patients: A Monocentric Study.

Genes
Foglietta, Jennifer J; Ludovini, Vienna V; Bianconi, Fortunato F; Pistola, Lorenza L; Reda, Maria Sole MS; Al-Refaie, Antonella A; Tofanetti, Francesca Romana FR; Mosconi, Annamaria A; Minenza, Elisa E; Anastasi, Paola P; Molica, Carmen C; Stracci, Fabrizio F; Roila, Fausto F
Publication Date: 2020-08-12

Variant appearance in text: BRCA1: 4117G>T; Glu1373Ter
PubMed Link: 32806537
Variant Present in the following documents:
  • Main text
View BVdb publication page



Patterns and Prevalence of Germline BRCA1 and BRCA2 Mutations among High-Risk Breast Cancer Patients in Jordan: A Study of 500 Patients.

Journal Of Oncology
Abdel-Razeq, Hikmat H; Abujamous, Lama L; Jadaan, Dima D
Publication Date: 2020

Variant appearance in text: BRCA1: 4117G>T; Glu1373Ter; rs80357259
PubMed Link: 32733560
Variant Present in the following documents:
  • Main text
  • JO2020-8362179.pdf
View BVdb publication page



Association of gBRCA1/2 mutation locations with ovarian cancer risk in Japanese patients from the CHARLOTTE study.

Cancer Science
Yoshihara, Kosuke K; Enomoto, Takayuki T; Aoki, Daisuke D; Watanabe, Yoh Y; Kigawa, Junzo J; Takeshima, Nobuhiro N; Inomata, Hyoe H; Hattori, Kana K; Jinushi, Masahisa M; Tsuda, Hitoshi H; Sugiyama, Toru T
Publication Date: 2020-09

Variant appearance in text: BRCA1: E1373*
PubMed Link: 32495382
Variant Present in the following documents:
  • CAS-111-3350.pdf
View BVdb publication page



Spectrum of Germline BRCA1 and BRCA2 Variants Identified in 2351 Ovarian and Breast Cancer Patients Referring to a Reference Cancer Hospital of Rome.

Cancers
Santonocito, Concetta C; Rizza, Roberta R; Paris, Ida I; Marchis, Laura De L; Paolillo, Carmela C; Tiberi, Giordana G; Scambia, Giovanni G; Capoluongo, Ettore E
Publication Date: 2020-05-19

Variant appearance in text: BRCA1: 4117G>T
PubMed Link: 32438681
Variant Present in the following documents:
  • Main text
  • cancers-12-01286.pdf
View BVdb publication page



Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML.

Npj Breast Cancer
Hart, Steven N SN; Polley, Eric C EC; Shimelis, Hermella H; Yadav, Siddhartha S; Couch, Fergus J FJ
Publication Date: 2020

Variant appearance in text: BRCA1: 4117G>T; Glu1373X
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



OncoOmics approaches to reveal essential genes in breast cancer: a panoramic view from pathogenesis to precision medicine.

Scientific Reports
López-Cortés, Andrés A; Paz-Y-Miño, César C; Guerrero, Santiago S; Cabrera-Andrade, Alejandro A; Barigye, Stephen J SJ; Munteanu, Cristian R CR; González-Díaz, Humberto H; Pazos, Alejandro A; Pérez-Castillo, Yunierkis Y; Tejera, Eduardo E
Publication Date: 2020-03-24

Variant appearance in text: BRCA1: E1373*
PubMed Link: 32210335
Variant Present in the following documents:
  • 41598_2020_62279_MOESM2_ESM.xlsx, sheet 33
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: 4117G>T
PubMed Link: 31853058
Variant Present in the following documents:
  • 41436_2019_729_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10

Variant appearance in text: BRCA1: 4117G>T; Glu1373*; rs80357259
PubMed Link: 31589614
Variant Present in the following documents:
  • pgen.1008409.s001.xlsx, sheet 1
  • pgen.1008409.s003.xlsx, sheet 1
View BVdb publication page



BRCA1 and BRCA2 Testing through Next Generation Sequencing in a Small Cohort of Italian Breast/Ovarian Cancer Patients: Novel Pathogenic and Unknown Clinical Significance Variants.

International Journal Of Molecular Sciences
Concolino, Paola P; Gelli, Gianfranco G; Rizza, Roberta R; Costella, Alessandra A; Scambia, Giovanni G; Capoluongo, Ettore E
Publication Date: 2019-07-12

Variant appearance in text: BRCA1: 4117G>T; Glu1373Ter; rs80357259
PubMed Link: 31336956
Variant Present in the following documents:
  • Main text
  • ijms-20-03442.pdf
View BVdb publication page



Next-generation sequencing of BRCA1 and BRCA2 genes for rapid detection of germline mutations in hereditary breast/ovarian cancer.

Peerj
Nicolussi, Arianna A; Belardinilli, Francesca F; Mahdavian, Yasaman Y; Colicchia, Valeria V; D'Inzeo, Sonia S; Petroni, Marialaura M; Zani, Massimo M; Ferraro, Sergio S; Valentini, Virginia V; Ottini, Laura L; Giannini, Giuseppe G; Capalbo, Carlo C; Coppa, Anna A
Publication Date: 2019

Variant appearance in text: BRCA1: 4117G>T; Glu1373Ter
PubMed Link: 31065452
Variant Present in the following documents:
  • Main text
  • peerj-07-6661.pdf
View BVdb publication page



Prevalence of BRCA1 and BRCA2 pathogenic and likely pathogenic variants in non-selected ovarian carcinoma patients in Brazil.

Bmc Cancer
Cotrim, Deborah Porto DP; Ribeiro, Adriana Regina Gonçalves ARG; Paixão, Daniele D; de Queiroz Soares, Diogo Cordeiro DC; Jbili, Rima R; Pandolfi, Natasha Carvalho NC; Cezana, Camila C; de Cássia Mauro, Carine C; Mantoan, Henrique H; Bovolim, Graziele G; de Brot, Louise L; Torrezan, Giovana Tardin GT; Carraro, Dirce Maria DM; Baiocchi, Glauco G; da Cruz Formiga, Maria Nirvana MN; da Costa, Alexandre A B A AABA
Publication Date: 2019-01-03

Variant appearance in text: BRCA1: 4117G>T; Glu1373Ter
PubMed Link: 30606148
Variant Present in the following documents:
  • Main text
  • 12885_2018_Article_5235.pdf
View BVdb publication page



The germline mutational landscape of BRCA1 and BRCA2 in Brazil.

Scientific Reports
Palmero, Edenir Inêz EI; Carraro, Dirce Maria DM; Alemar, Barbara B; Moreira, Miguel Angelo Martins MAM; Ribeiro-Dos-Santos, Ândrea Â; Abe-Sandes, Kiyoko K; Galvão, Henrique Campos Reis HCR; Reis, Rui Manuel RM; de Pádua Souza, Cristiano C; Campacci, Natalia N; Achatz, Maria Isabel MI; Brianese, Rafael Canfield RC; da Cruz Formiga, Maria Nirvana MN; Makdissi, Fabiana Baroni FB; Vargas, Fernando Regla FR; Evangelista Dos Santos, Anna Cláudia AC; Seuanez, Hector N HN; Lobo de Souza, Kelly Rose KR; Netto, Cristina B O CBO; Santos-Silva, Patrícia P; da Silva, Gustavo Stumpf GS; Burbano, Rommel M R RMR; Santos, Sidney S; Assumpção, Paulo Pimentel PP; Bernardes, Izabel Maria Monteiro IMM; Machado-Lopes, Taisa Manuela Bonfim TMB; Bomfim, Thais Ferreira TF; Toralles, Maria Betânia Pereira MBP; Nascimento, Ivana I; Garicochea, Bernardo B; Simon, Sergio D SD; Noronha, Simone S; de Lima, Fernanda Teresa FT; Chami, Anisse Marques AM; Bittar, Camila Matzenbacher CM; Bines, Jose J; Artigalas, Osvaldo O; Esteves-Diz, Maria Del Pilar MDP; Lajus, Tirzah Braz Petta TBP; Gifoni, Ana Carolina Leite Vieira Costa ACLVC; Guindalini, Rodrigo S C RSC; Cintra, Terezinha Sarquis TS; Schwartz, Ida V D IVD; Bernardi, Pricila P; Miguel, Diego D; Nogueira, Sonia Tereza Dos Santos STDS; Herzog, Josef J; Weitzel, Jeffrey N JN; Ashton-Prolla, Patricia P
Publication Date: 2018-06-15

Variant appearance in text: BRCA1: 4117G>T
PubMed Link: 29907814
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_27315.pdf
  • 41598_2018_27315_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Identification of a novel GREM1 duplication in a patient with multiple colon polyps.

Familial Cancer
McKenna, Danielle B DB; Van Den Akker, Jeroen J; Zhou, Alicia Y AY; Ryan, Lauren L; Leon, Annette A; O'Connor, Robert R; Shah, Payal D PD; Rustgi, Anil K AK; Katona, Bryson W BW
Publication Date: 2019-01

Variant appearance in text: BRCA1: E1373X
PubMed Link: 29804199
Variant Present in the following documents:
  • Main text
View BVdb publication page



Germline BRCA1/BRCA2 mutations among high risk breast cancer patients in Jordan.

Bmc Cancer
Abdel-Razeq, Hikmat H; Al-Omari, Amal A; Zahran, Farah F; Arun, Banu B
Publication Date: 2018-02-06

Variant appearance in text: BRCA1: E1373X
PubMed Link: 29409476
Variant Present in the following documents:
  • Main text
  • 12885_2018_Article_4079.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: BRCA1: 4117G>T; Glu1373Ter
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Genomic analysis of inherited breast cancer among Palestinian women: Genetic heterogeneity and a founder mutation in TP53.

International Journal Of Cancer
Lolas Hamameh, Suhair S; Renbaum, Paul P; Kamal, Lara L; Dweik, Dima D; Salahat, Mohammad M; Jaraysa, Tamara T; Abu Rayyan, Amal A; Casadei, Silvia S; Mandell, Jessica B JB; Gulsuner, Suleyman S; Lee, Ming K MK; Walsh, Tom T; King, Mary-Claire MC; Levy-Lahad, Ephrat E; Kanaan, Moein M
Publication Date: 2017-08-15

Variant appearance in text: BRCA1: E1373X
PubMed Link: 28486781
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

Plos One
LaDuca, Holly H; Farwell, Kelly D KD; Vuong, Huy H; Lu, Hsiao-Mei HM; Mu, Wenbo W; Shahmirzadi, Layla L; Tang, Sha S; Chen, Jefferey J; Bhide, Shruti S; Chao, Elizabeth C EC
Publication Date: 2017

Variant appearance in text: BRCA1: 4117G>T; E1373*
PubMed Link: 28152038
Variant Present in the following documents:
  • pone.0170843.s004.xlsx, sheet 1
  • pone.0170843.s003.xlsx, sheet 1
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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: 4117G>T
PubMed Link: 28145423
Variant Present in the following documents:
  • ejhg2016203x2.xls, sheet 1
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Arab gene geography: From population diversities to personalized medical genomics.

Global Cardiology Science & Practice
Tadmouri, Ghazi O GO; Sastry, Konduru S KS; Chouchane, Lotfi L
Publication Date: 2014

Variant appearance in text: BRCA1: Glu1373X
PubMed Link: 25780794
Variant Present in the following documents:
  • Main text
  • gcsp-2014-054.pdf
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Prevalence of germline mutations in cancer predisposition genes in patients with pancreatic cancer.

Gastroenterology
Grant, Robert C RC; Selander, Iris I; Connor, Ashton A AA; Selvarajah, Shamini S; Borgida, Ayelet A; Briollais, Laurent L; Petersen, Gloria M GM; Lerner-Ellis, Jordan J; Holter, Spring S; Gallinger, Steven S
Publication Date: 2015-03

Variant appearance in text: BRCA1: 4117G>T; E1373X
PubMed Link: 25479140
Variant Present in the following documents:
  • Main text
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BRCA-1 and BRCA-2 mutation bedside detection and breast cancer clinical primary prevention.

Frontiers In Genetics
Stagnaro, Sergio S; Caramel, Simone S
Publication Date: 2013

Variant appearance in text: BRCA1: E1373X
PubMed Link: 23533376
Variant Present in the following documents:
  • Main text
  • fgene-04-00039.pdf
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A novel BRCA-1 mutation in Arab kindred from east Jerusalem with breast and ovarian cancer.

Bmc Cancer
Kadouri, Luna L; Bercovich, Dani D; Elimelech, Arava A; Lerer, Israela I; Sagi, Michal M; Glusman, Gila G; Shochat, Chen C; Korem, Sigal S; Hamburger, Tamar T; Nissan, Aviram A; Abu-Halaf, Nahil N; Badrriyah, Muhmud M; Abeliovich, Dvorah D; Peretz, Tamar T
Publication Date: 2007-01-18

Variant appearance in text: BRCA1: E1373X
PubMed Link: 17233897
Variant Present in the following documents:
  • Main text
  • 1471-2407-7-14.pdf
View BVdb publication page