BRCA1 c.1456T>C ;(p.F486L)

Variant ID: 17-41246092-A-G

NM_007294.3(BRCA1):c.1456T>C;(p.F486L)

This variant was identified in 58 publications

View GRCh38 version.




Publications:


Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Frontiers In Genetics
Keskin Karakoyun, Hilal H; Yüksel, Şirin K ŞK; Amanoglu, Ilayda I; Naserikhojasteh, Lara L; Yeşilyurt, Ahmet A; Yakıcıer, Cengiz C; Timuçin, Emel E; Akyerli, Cemaliye B CB
Publication Date: 2023

Variant appearance in text: BRCA1: F486L
PubMed Link: 36896237
Variant Present in the following documents:
  • Table1.xlsx, sheet 1
View BVdb publication page



APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.

Medrxiv : The Preprint Server For Health Sciences
Walker, Logan C LC; de la Hoya, Miguel M; Wiggins, George Ar GA; Lindy, Amanda A; Vincent, Lisa M LM; Parsons, Michael M; Canson, Daffodil M DM; Bis-Brewer, Dana D; Cass, Ashley A; Tchourbanov, Alexander A; Zimmermann, Heather H; Byrne, Alicia B AB; Pesaran, Tina T; Karam, Rachid R; Harrison, Steven M SM; , ; Spurdle, Amanda B AB
Publication Date: 2023-02-26

Variant appearance in text: BRCA1: 1456T>C
PubMed Link: 36865205
Variant Present in the following documents:
  • media-10.xlsx, sheet 1
View BVdb publication page



Pan-cancer clinical impact of latent drivers from double mutations.

Communications Biology
Yavuz, Bengi Ruken BR; Tsai, Chung-Jung CJ; Nussinov, Ruth R; Tuncbag, Nurcan N
Publication Date: 2023-02-20

Variant appearance in text: BRCA1: F486L
PubMed Link: 36808143
Variant Present in the following documents:
  • 42003_2023_4519_MOESM3_ESM.xlsx, sheet 3
View BVdb publication page



Occurrence of variants of unknown clinical significance in genetic testing for hereditary breast and ovarian cancer syndrome and Lynch syndrome: a literature review and analytical observational retrospective cohort study.

Bmc Medical Genomics
Adam, Felicia F; Fluri, Muriel M; Scherz, Amina A; Rabaglio, Manuela M
Publication Date: 2023-01-16

Variant appearance in text: BRCA1: 1456T>C
PubMed Link: 36647026
Variant Present in the following documents:
  • 12920_2023_1437_MOESM3_ESM.xlsx, sheet 1
  • 12920_2023_1437_MOESM2_ESM.xlsx, sheet 1
  • 12920_2023_1437_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics
G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A
Publication Date: 2022

Variant appearance in text: rs55906931
PubMed Link: 36561320
Variant Present in the following documents:
  • Table2.xlsx, sheet 2
View BVdb publication page



Germline and somatic variants in ovarian carcinoma: A next-generation sequencing (NGS) analysis.

Frontiers In Oncology
Andrikopoulou, Angeliki A; Zografos, Eleni E; Apostolidou, Kleoniki K; Kyriazoglou, Anastasios A; Papatheodoridi, Alksistis-Maria AM; Kaparelou, Maria M; Koutsoukos, Konstantinos K; Liontos, Michalis M; Dimopoulos, Meletios-Athanasios MA; Zagouri, Flora F
Publication Date: 2022

Variant appearance in text: BRCA1: 1456T>C; Phe486Leu
PubMed Link: 36531003
Variant Present in the following documents:
  • Main text
  • fonc-12-1030786.pdf
View BVdb publication page



Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: BRCA1: F486L; rs55906931
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc2.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: 1456T>C; Phe486Leu
PubMed Link: 36385461
Variant Present in the following documents:
  • IJC-152-1159-s001.xlsx, sheet 2
  • IJC-152-1159-s006.xlsx, sheet 2
  • IJC-152-1159-s001.xlsx, sheet 3
  • IJC-152-1159-s002.xlsx, sheet 1
View BVdb publication page



Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology
Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W
Publication Date: 2022

Variant appearance in text: BRCA1: F486L
PubMed Link: 36072793
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Network for network concept offers new insights into host- SARS-CoV-2 protein interactions and potential novel targets for developing antiviral drugs.

Computers In Biology And Medicine
Eskandarzade, Neda N; Ghorbani, Abozar A; Samarfard, Samira S; Diaz, Jose J; Guzzi, Pietro H PH; Fariborzi, Niloofar N; Tahmasebi, Ahmad A; Izadpanah, Keramatollah K
Publication Date: 2022-07

Variant appearance in text: BRCA1: F486L
PubMed Link: 35533462
Variant Present in the following documents:
  • Main text
View BVdb publication page



Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.

Frontiers In Genetics
Aguiar, Talita T; Teixeira, Anne A; Scliar, Marília O MO; Sobral de Barros, Juliana J; Lemes, Renan B RB; Souza, Silvia S; Tolezano, Giovanna G; Santos, Fernanda F; Tojal, Israel I; Cypriano, Monica M; Caminada de Toledo, Silvia Regina SR; Valadares, Eugênia E; Borges Pinto, Raquel R; Pinto Artigalas, Osvaldo Afonso OA; Caetano de Aguirre Neto, Joaquim J; Novak, Estela E; Cristofani, Lilian Maria LM; Miura Sugayama, Sofia M SM; Odone, Vicente V; Cunha, Isabela Werneck IW; Lima da Costa, Cecilia Maria CM; Rosenberg, Carla C; Krepischi, Ana A
Publication Date: 2022

Variant appearance in text: BRCA1: 1456T>C; rs55906931
PubMed Link: 35495172
Variant Present in the following documents:
  • DataSheet1.xlsx, sheet 3
View BVdb publication page



Sequencing of BRCA1/2-alterations using NGS-based technology: annotation as a challenge.

Oncotarget
Ebner, Silvana S; Winkelmann, Ria R; Martin, Saskia S; Köllermann, Jens J; Wild, Peter J PJ; Demes, Melanie M
Publication Date: 2022

Variant appearance in text: BRCA1: 1456T>C
PubMed Link: 35251494
Variant Present in the following documents:
  • Main text
  • oncotarget-13-28213.pdf
View BVdb publication page



The MURAL collection of prostate cancer patient-derived xenografts enables discovery through preclinical models of uro-oncology.

Nature Communications
Risbridger, Gail P GP; Clark, Ashlee K AK; Porter, Laura H LH; Toivanen, Roxanne R; Bakshi, Andrew A; Lister, Natalie L NL; Pook, David D; Pezaro, Carmel J CJ; Sandhu, Shahneen S; Keerthikumar, Shivakumar S; Quezada Urban, Rosalia R; Papargiris, Melissa M; Kraska, Jenna J; Madsen, Heather B HB; Wang, Hong H; Richards, Michelle G MG; Niranjan, Birunthi B; O'Dea, Samantha S; Teng, Linda L; Wheelahan, William W; Li, Zhuoer Z; Choo, Nicholas N; Ouyang, John F JF; Thorne, Heather H; Devereux, Lisa L; Hicks, Rodney J RJ; Sengupta, Shomik S; Harewood, Laurence L; Iddawala, Mahesh M; Azad, Arun A AA; Goad, Jeremy J; Grummet, Jeremy J; Kourambas, John J; Kwan, Edmond M EM; Moon, Daniel D; Murphy, Declan G DG; Pedersen, John J; Clouston, David D; Norden, Sam S; Ryan, Andrew A; Furic, Luc L; Goode, David L DL; Frydenberg, Mark M; Lawrence, Mitchell G MG; Taylor, Renea A RA
Publication Date: 2021-08-19

Variant appearance in text: BRCA1: 1456T>C; Phe486Leu; rs55906931
PubMed Link: 34413304
Variant Present in the following documents:
  • 41467_2021_25175_MOESM4_ESM.xlsx, sheet 5
View BVdb publication page



Pathogenic nsSNPs that increase the risks of cancers among the Orang Asli and Malays.

Scientific Reports
Khoruddin, Nurul Ain NA; Noorizhab, Mohd NurFakhruzzaman MN; Teh, Lay Kek LK; Mohd Yusof, Farida Zuraina FZ; Salleh, Mohd Zaki MZ
Publication Date: 2021-08-09

Variant appearance in text: BRCA1: F486L; rs55906931
PubMed Link: 34373545
Variant Present in the following documents:
  • 41598_2021_95618_MOESM1_ESM.xlsx, sheet 1
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: 1456T>C; Phe486Leu; rs55906931
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 6
View BVdb publication page



Next-generation sequencing of BRCA1 and BRCA2 genes in Moroccan prostate cancer patients with positive family history.

Plos One
Salmi, Fatiha F; Maachi, Fatima F; Tazzite, Amal A; Aboutaib, Rachid R; Fekkak, Jamal J; Azeddoug, Houssine H; Jouhadi, Hassan H
Publication Date: 2021

Variant appearance in text: BRCA1: 1456T>C; Phe486Leu
PubMed Link: 34242281
Variant Present in the following documents:
  • Main text
  • pone.0254101.s001.pdf
  • pone.0254101.pdf
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: BRCA1: 1456T>C; Phe486Leu; rs55906931
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: BRCA1: 1456T>C; Phe486Leu; rs55906931
PubMed Link: 33840814
Variant Present in the following documents:
  • 41431_2021_878_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.

Scientific Reports
von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I
Publication Date: 2021-03-05

Variant appearance in text: BRCA1: 1456T>C; Phe486Leu; rs55906931
PubMed Link: 33674644
Variant Present in the following documents:
  • 41598_2021_84502_MOESM2_ESM.xlsx, sheet 10
View BVdb publication page



Sensitivity and specificity of loss of heterozygosity analysis for the classification of rare germline variants in BRCA1/2: results of the observational AGO-TR1 study (NCT02222883).

Journal Of Medical Genetics
Hauke, Jan J; Harter, Philipp P; Ernst, Corinna C; Burges, Alexander A; Schmidt, Sandra S; Reuss, Alexander A; Borde, Julika J; De Gregorio, Nikolaus N; Dietrich, Dimo D; El-Balat, Ahmed A; Kayali, Mohamad M; Gevensleben, Heidrun H; Hilpert, Felix F; Altmüller, Janine J; Heimbach, André A; Meier, Werner W; Schoemig-Markiefka, Birgid B; Thiele, Holger H; Kimmig, Rainer R; Nürnberg, Peter P; Kast, Karin K; Richters, Lisa L; Sehouli, Jalid J; Schmutzler, Rita K RK; Hahnen, Eric E
Publication Date: 2022-03

Variant appearance in text: BRCA1: 1456T>C; Phe486Leu
PubMed Link: 33273034
Variant Present in the following documents:
  • jmedgenet-2020-107353supp001.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: 1456T>C; Phe486Leu
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots".

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Dines, Jennifer N JN; Shirts, Brian H BH; Slavin, Thomas P TP; Walsh, Tom T; King, Mary-Claire MC; Fowler, Douglas M DM; Pritchard, Colin C CC
Publication Date: 2020-05

Variant appearance in text: BRCA1: 1456T>C; F486L; rs55906931
PubMed Link: 31911673
Variant Present in the following documents:
  • 41436_2019_740_MOESM2_ESM.xlsx, sheet 2
  • 41436_2019_740_MOESM2_ESM.xlsx, sheet 1
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: BRCA1: 1456T>C; F486L; rs55906931
PubMed Link: 31874108
Variant Present in the following documents:
  • jci-130-132031-s100.xlsx, sheet 1
View BVdb publication page



Activating mutations in CSF1R and additional receptor tyrosine kinases in histiocytic neoplasms.

Nature Medicine
Durham, Benjamin H BH; Lopez Rodrigo, Estibaliz E; Picarsic, Jennifer J; Abramson, David D; Rotemberg, Veronica V; De Munck, Steven S; Pannecoucke, Erwin E; Lu, Sydney X SX; Pastore, Alessandro A; Yoshimi, Akihide A; Mandelker, Diana D; Ceyhan-Birsoy, Ozge O; Ulaner, Gary A GA; Walsh, Michael M; Yabe, Mariko M; Petrova-Drus, Kseniya K; Arcila, Maria E ME; Ladanyi, Marc M; Solit, David B DB; Berger, Michael F MF; Hyman, David M DM; Lacouture, Mario E ME; Erickson, Caroline C; Saganty, Ruth R; Ki, Michelle M; Dunkel, Ira J IJ; Santa-María López, Vicente V; Mora, Jaume J; Haroche, Julien J; Emile, Jean-Francois JF; Decaux, Olivier O; Geissmann, Frederic F; Savvides, Savvas N SN; Drilon, Alexander A; Diamond, Eli L EL; Abdel-Wahab, Omar O
Publication Date: 2019-12

Variant appearance in text: BRCA1: 1456T>C; F486L
PubMed Link: 31768065
Variant Present in the following documents:
  • NIHMS1541330-supplement-1.pdf
View BVdb publication page



REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Publication Date: 2019-09-04

Variant appearance in text: BRCA1: 1456T>C; F486L
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Plos Computational Biology
Brown, Anna-Leigh AL; Li, Minghui M; Goncearenco, Alexander A; Panchenko, Anna R AR
Publication Date: 2019-04

Variant appearance in text: BRCA1: F486L
PubMed Link: 31034466
Variant Present in the following documents:
  • pcbi.1006981.s010.xlsx, sheet 1
View BVdb publication page



Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Boonsawat, Paranchai P; Joset, Pascal P; Steindl, Katharina K; Oneda, Beatrice B; Gogoll, Laura L; Azzarello-Burri, Silvia S; Sheth, Frenny F; Datar, Chaitanya C; Verma, Ishwar C IC; Puri, Ratna Dua RD; Zollino, Marcella M; Bachmann-Gagescu, Ruxandra R; Niedrist, Dunja D; Papik, Michael M; Figueiro-Silva, Joana J; Masood, Rahim R; Zweier, Markus M; Kraemer, Dennis D; Lincoln, Sharyn S; Rodan, Lance L; , ; Passemard, Sandrine S; Drunat, Séverine S; Verloes, Alain A; Horn, Anselm H C AHC; Sticht, Heinrich H; Steinfeld, Robert R; Plecko, Barbara B; Latal, Beatrice B; Jenni, Oskar O; Asadollahi, Reza R; Rauch, Anita A
Publication Date: 2019-09

Variant appearance in text: rs55906931
PubMed Link: 30842647
Variant Present in the following documents:
  • 41436_2019_464_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



BRCA mutation screening and patterns among high-risk Lebanese subjects.

Hereditary Cancer In Clinical Practice
Farra, Chantal C; Dagher, Christelle C; Badra, Rebecca R; Hammoud, Miza Salim MS; Alameddine, Raafat R; Awwad, Johnny J; Seoud, Muhieddine M; Abbas, Jaber J; Boulos, Fouad F; El Saghir, Nagi N; Mukherji, Deborah D
Publication Date: 2019

Variant appearance in text: BRCA1: 1456T>C; Phe486Leu
PubMed Link: 30675319
Variant Present in the following documents:
  • Main text
  • 13053_2019_Article_105.pdf
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: 1456T>C; Phe486Leu
PubMed Link: 30630528
Variant Present in the following documents:
  • 40246_2018_188_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



A Bayesian framework for efficient and accurate variant prediction.

Plos One
Qian, Dajun D; Li, Shuwei S; Tian, Yuan Y; Clifford, Jacob W JW; Sarver, Brice A J BAJ; Pesaran, Tina T; Gau, Chia-Ling CL; Elliott, Aaron M AM; Lu, Hsiao-Mei HM; Black, Mary Helen MH
Publication Date: 2018

Variant appearance in text: BRCA1: 1456T>C; F486L
PubMed Link: 30212499
Variant Present in the following documents:
  • pone.0203553.s008.xlsx, sheet 2
View BVdb publication page



Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Hart, Steven N SN; Hoskin, Tanya T; Shimelis, Hermela H; Moore, Raymond M RM; Feng, Bingjian B; Thomas, Abigail A; Lindor, Noralane M NM; Polley, Eric C EC; Goldgar, David E DE; Iversen, Edwin E; Monteiro, Alvaro N A ANA; Suman, Vera J VJ; Couch, Fergus J FJ
Publication Date: 2019-01

Variant appearance in text: BRCA1: F486L
PubMed Link: 29884841
Variant Present in the following documents:
  • NIHMS953431-supplement-Table_S2.xls, sheet 1
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: rs55906931
PubMed Link: 29641532
Variant Present in the following documents:
  • pone.0194098.s003.xlsx, sheet 2
View BVdb publication page



Performance of in silico prediction tools for the classification of rare BRCA1/2 missense variants in clinical diagnostics.

Bmc Medical Genomics
Ernst, Corinna C; Hahnen, Eric E; Engel, Christoph C; Nothnagel, Michael M; Weber, Jonas J; Schmutzler, Rita K RK; Hauke, Jan J
Publication Date: 2018-03-27

Variant appearance in text: BRCA1: F486L
PubMed Link: 29580235
Variant Present in the following documents:
  • 12920_2018_353_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: 1456T>C; Phe486Leu
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Functional and mutational landscapes of BRCA1 for homology-directed repair and therapy resistance.

Elife
Anantha, Rachel W RW; Simhadri, Srilatha S; Foo, Tzeh Keong TK; Miao, Susanna S; Liu, Jingmei J; Shen, Zhiyuan Z; Ganesan, Shridar S; Xia, Bing B
Publication Date: 2017-04-11

Variant appearance in text: BRCA1: 1456T>C; F486L
PubMed Link: 28398198
Variant Present in the following documents:
  • Main text
  • elife-21350-fig1-data1.xlsx, sheet 1
  • elife-21350.pdf
  • elife-21350-fig3-data1.xlsx, sheet 1
  • elife-21350-fig2-data1.xlsx, sheet 1
View BVdb publication page



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: BRCA1: F486L
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s3.xls, sheet 1
View BVdb publication page



BRCA1 and BRCA2 sequence variations detected with next-generation sequencing in patients with premature ovarian insufficiency.

Journal Of The Turkish German Gynecological Association
Yılmaz, Nafiye Karakaş NK; Karagin, Peren Hatice PH; Terzi, Yunus Kasım YK; Kahyaoğlu, İnci İ; Yılmaz, Saynur S; Erkaya, Salim S; Şahin, Feride İffet Fİ
Publication Date: 2016

Variant appearance in text: BRCA1: 1456T>C; F486L
PubMed Link: 27403073
Variant Present in the following documents:
  • Main text
View BVdb publication page



Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants.

Human Mutation
Vallée, Maxime P MP; Di Sera, Tonya L TL; Nix, David A DA; Paquette, Andrew M AM; Parsons, Michael T MT; Bell, Russel R; Hoffman, Andrea A; Hogervorst, Frans B L FB; Goldgar, David E DE; Spurdle, Amanda B AB; Tavtigian, Sean V SV
Publication Date: 2016-07

Variant appearance in text: BRCA1: 1456T>C; F486L
PubMed Link: 26913838
Variant Present in the following documents:
  • HUMU-37-627-s001.xlsx, sheet 1
View BVdb publication page



Patterns and functional implications of rare germline variants across 12 cancer types.

Nature Communications
Lu, Charles C; Xie, Mingchao M; Wendl, Michael C MC; Wang, Jiayin J; McLellan, Michael D MD; Leiserson, Mark D M MD; Huang, Kuan-Lin KL; Wyczalkowski, Matthew A MA; Jayasinghe, Reyka R; Banerjee, Tapahsama T; Ning, Jie J; Tripathi, Piyush P; Zhang, Qunyuan Q; Niu, Beifang B; Ye, Kai K; Schmidt, Heather K HK; Fulton, Robert S RS; McMichael, Joshua F JF; Batra, Prag P; Kandoth, Cyriac C; Bharadwaj, Maheetha M; Koboldt, Daniel C DC; Miller, Christopher A CA; Kanchi, Krishna L KL; Eldred, James M JM; Larson, David E DE; Welch, John S JS; You, Ming M; Ozenberger, Bradley A BA; Govindan, Ramaswamy R; Walter, Matthew J MJ; Ellis, Matthew J MJ; Mardis, Elaine R ER; Graubert, Timothy A TA; Dipersio, John F JF; Ley, Timothy J TJ; Wilson, Richard K RK; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Chen, Feng F; Johnson, Kimberly J KJ; Parvin, Jeffrey D JD; Ding, Li L
Publication Date: 2015-12-22

Variant appearance in text: BRCA1: F486L
PubMed Link: 26689913
Variant Present in the following documents:
  • ncomms10086-s1.pdf
  • ncomms10086-s22.xlsx, sheet 1
  • ncomms10086-s13.xlsx, sheet 1
  • ncomms10086-s24.xlsx, sheet 1
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Spectrum and frequencies of BRCA1/2 mutations in Bulgarian high risk breast cancer patients.

Bmc Cancer
Dodova, Rumyana Ivanova RI; Mitkova, Atanaska Velichkova AV; Dacheva, Daniela Rosenova DR; Hadjo, Lina Basam LB; Vlahova, Alexandrina Ivanova AI; -Hadjieva, Margarita Stoyanova Taushanova MST; Valev, Spartak Stoyanov SS; Caulevska, Marija Mitko MM; Popova, Stanislava Dimitrova SD; Popov, Ivan Emilov IE; Dikov, Tihomir Iliichev TI; Sedloev, Theophil Angelov TA; Ionkov, Atanas Stefanov AS; Timcheva, Konstanta Velinova KV; Christova, Svetlana Liubomirova SL; Kremensky, Ivo Marinov IM; Mitev, Vanio Ivanov VI; Kaneva, Radka Petrova RP
Publication Date: 2015-07-17

Variant appearance in text: BRCA1: 1456T>C; Phe486Leu
PubMed Link: 26183948
Variant Present in the following documents:
  • Main text
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New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing.

Bmc Medical Genomics
Kluska, Anna A; Balabas, Aneta A; Paziewska, Agnieszka A; Kulecka, Maria M; Nowakowska, Dorota D; Mikula, Michal M; Ostrowski, Jerzy J
Publication Date: 2015-05-07

Variant appearance in text: BRCA1: F486L; rs55906931
PubMed Link: 25948282
Variant Present in the following documents:
  • Main text
  • 12920_2015_92_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics
Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J
Publication Date: 2015-03-12

Variant appearance in text: BRCA1: F486L; rs55906931
PubMed Link: 25887915
Variant Present in the following documents:
  • 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



BRCA genetic screening in Middle Eastern and North African: mutational spectrum and founder BRCA1 mutation (c.798_799delTT) in North African.

Disease Markers
Laraqui, Abdelilah A; Uhrhammer, Nancy N; Rhaffouli, Hicham E L HE; Sekhsokh, Yassine Y; Lahlou-Amine, Idriss I; Bajjou, Tahar T; Hilali, Farida F; El Baghdadi, Jamila J; Al Bouzidi, Abderrahmane A; Bakri, Youssef Y; Amzazi, Said S; Bignon, Yves-Jean YJ
Publication Date: 2015

Variant appearance in text: BRCA1: 1456T>C; Phe486Leu
PubMed Link: 25814778
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: N/A
PubMed Link: 25780794
Variant Present in the following documents:
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Spatial and temporal heterogeneity in high-grade serous ovarian cancer: a phylogenetic analysis.

Plos Medicine
Schwarz, Roland F RF; Ng, Charlotte K Y CK; Cooke, Susanna L SL; Newman, Scott S; Temple, Jillian J; Piskorz, Anna M AM; Gale, Davina D; Sayal, Karen K; Murtaza, Muhammed M; Baldwin, Peter J PJ; Rosenfeld, Nitzan N; Earl, Helena M HM; Sala, Evis E; Jimenez-Linan, Mercedes M; Parkinson, Christine A CA; Markowetz, Florian F; Brenton, James D JD
Publication Date: 2015-02

Variant appearance in text: N/A
PubMed Link: 25710373
Variant Present in the following documents:
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Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.

Genome Biology
Martelotto, Luciano G LG; Ng, Charlotte Ky CK; De Filippo, Maria R MR; Zhang, Yan Y; Piscuoglio, Salvatore S; Lim, Raymond S RS; Shen, Ronglai R; Norton, Larry L; Reis-Filho, Jorge S JS; Weigelt, Britta B
Publication Date: 2014-10-28

Variant appearance in text: BRCA1: F486L
PubMed Link: 25348012
Variant Present in the following documents:
  • 13059_2014_484_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One
Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE
Publication Date: 2014

Variant appearance in text: BRCA1: F486L; rs55906931
PubMed Link: 24728327
Variant Present in the following documents:
  • pone.0094554.s002.xlsx, sheet 1
View BVdb publication page



A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.

Biomed Research International
Karami, Fatemeh F; Mehdipour, Parvin P
Publication Date: 2013

Variant appearance in text: BRCA1: F486L
PubMed Link: 24312913
Variant Present in the following documents:
  • Main text
  • BMRI2013-928562.pdf
View BVdb publication page



BRCA1 And BRCA2 analysis of Argentinean breast/ovarian cancer patients selected for age and family history highlights a role for novel mutations of putative south-American origin.

Springerplus
Solano, Angela Rosaria AR; Aceto, Gitana Maria GM; Delettieres, Dreanina D; Veschi, Serena S; Neuman, Maria Isabel MI; Alonso, Eduardo E; Chialina, Sergio S; Chacón, Reinaldo Daniel RD; Renato, Mariani-Costantini MC; Podestá, Ernesto Jorge EJ
Publication Date: 2012

Variant appearance in text: BRCA1: 1456T>C; F486L; rs55906931
PubMed Link: 23961350
Variant Present in the following documents:
  • Main text
  • 40064_2012_Article_24.pdf
View BVdb publication page



Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

Plos Genetics
Haiman, Christopher A CA; Han, Ying Y; Feng, Ye Y; Xia, Lucy L; Hsu, Chris C; Sheng, Xin X; Pooler, Loreall C LC; Patel, Yesha Y; Kolonel, Laurence N LN; Carter, Erin E; Park, Karen K; Le Marchand, Loic L; Van Den Berg, David D; Henderson, Brian E BE; Stram, Daniel O DO
Publication Date: 2013-03

Variant appearance in text: rs55906931
PubMed Link: 23555315
Variant Present in the following documents:
  • pgen.1003419.s008.xlsx, sheet 1
View BVdb publication page



A guide for functional analysis of BRCA1 variants of uncertain significance.

Human Mutation
Millot, Gaël A GA; Carvalho, Marcelo A MA; Caputo, Sandrine M SM; Vreeswijk, Maaike P G MP; Brown, Melissa A MA; Webb, Michelle M; Rouleau, Etienne E; Neuhausen, Susan L SL; Hansen, Thomas v O Tv; Galli, Alvaro A; Brandão, Rita D RD; Blok, Marinus J MJ; Velkova, Aneliya A; Couch, Fergus J FJ; Monteiro, Alvaro N A AN; ,
Publication Date: 2012-11

Variant appearance in text: N/A
PubMed Link: 22753008
Variant Present in the following documents:
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Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon.

Hereditary Cancer In Clinical Practice
Jalkh, Nadine N; Nassar-Slaba, Jinane J; Chouery, Eliane E; Salem, Nabiha N; Uhrchammer, Nancy N; Golmard, Lisa L; Stoppa-Lyonnet, Domique D; Bignon, Yves-Jean YJ; Mégarbané, André A
Publication Date: 2012-06-19

Variant appearance in text: N/A
PubMed Link: 22713736
Variant Present in the following documents:
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A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

Human Mutation
Lindor, Noralane M NM; Guidugli, Lucia L; Wang, Xianshu X; Vallée, Maxime P MP; Monteiro, Alvaro N A AN; Tavtigian, Sean S; Goldgar, David E DE; Couch, Fergus J FJ
Publication Date: 2012-01

Variant appearance in text: BRCA1: 1456T>C; F486L
PubMed Link: 21990134
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hereditary breast cancer in Middle Eastern and North African (MENA) populations: identification of novel, recurrent and founder BRCA1 mutations in the Tunisian population.

Molecular Biology Reports
Mahfoudh, Wijden W; Bouaouina, Noureddine N; Ahmed, Slim Ben SB; Gabbouj, Sallouha S; Shan, Jingxuan J; Mathew, Rebecca R; Uhrhammer, Nancy N; Bignon, Yves-Jean YJ; Troudi, Wafa W; Elgaaied, Amel Ben Ammar AB; Hassen, Elham E; Chouchane, Lotfi L
Publication Date: 2012-02

Variant appearance in text: N/A
PubMed Link: 21603858
Variant Present in the following documents:
View BVdb publication page



Assessment of rare BRCA1 and BRCA2 variants of unknown significance using hierarchical modeling.

Genetic Epidemiology
Capanu, Marinela M; Concannon, Patrick P; Haile, Robert W RW; Bernstein, Leslie L; Malone, Kathleen E KE; Lynch, Charles F CF; Liang, Xiaolin X; Teraoka, Sharon N SN; Diep, Anh T AT; Thomas, Duncan C DC; Bernstein, Jonine L JL; , ; Begg, Colin B CB
Publication Date: 2011-07

Variant appearance in text: N/A
PubMed Link: 21520273
Variant Present in the following documents:
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Selecting for BRCA1 testing using a combination of homogeneous selection criteria and immunohistochemical characteristics of breast cancers.

Bmc Cancer
Miolo, GianMaria G; Canzonieri, Vincenzo V; De Giacomi, Clelia C; Puppa, Lara Della LD; Dolcetti, Riccardo R; Lombardi, Davide D; Perin, Tiziana T; Scalone, Simona S; Veronesi, Andrea A; Viel, Alessandra A
Publication Date: 2009-10-10

Variant appearance in text: BRCA1: F486L
PubMed Link: 19818148
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evaluation of unclassified variants in the breast cancer susceptibility genes BRCA1 and BRCA2 using five methods: results from a population-based study of young breast cancer patients.

Breast Cancer Research : Bcr
Lee, Eunjung E; McKean-Cowdin, Roberta R; Ma, Huiyan H; Chen, Zhengjia Z; Van Den Berg, David D; Henderson, Brian E BE; Bernstein, Leslie L; Ursin, Giske G
Publication Date: 2008

Variant appearance in text: BRCA1: F486L
PubMed Link: 18284688
Variant Present in the following documents:
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Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multistep testing approach in French-Canadian families with high risk of breast and ovarian cancer.

Journal Of Medical Genetics
Simard, Jacques J; Dumont, Martine M; Moisan, Anne-Marie AM; Gaborieau, Valérie V; Malouin, Hélène H; Durocher, Francine F; Chiquette, Jocelyne J; Plante, Marie M; Avard, Denise D; Bessette, Paul P; Brousseau, Claire C; Dorval, Michel M; Godard, Béatrice B; Houde, Louis L; , ; Joly, Yann Y; Lajoie, Marie-Andrée MA; Leblanc, Gilles G; Lépine, Jean J; Lespérance, Bernard B; Vézina, Hélène H; Parboosingh, Jillian J; Pichette, Roxane R; Provencher, Louise L; Rhéaume, Josée J; Sinnett, Daniel D; Samson, Carolle C; Simard, Jean-Claude JC; Tranchant, Martine M; Voyer, Patricia P; Easton, Douglas D; Tavtigian, Sean V SV; Knoppers, Bartha-Maria BM; Laframboise, Rachel R; Bridge, Peter P; Goldgar, David D
Publication Date: 2007-02

Variant appearance in text: N/A
PubMed Link: 16905680
Variant Present in the following documents:
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Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral.

Journal Of Medical Genetics
Tavtigian, S V SV; Deffenbaugh, A M AM; Yin, L L; Judkins, T T; Scholl, T T; Samollow, P B PB; de Silva, D D; Zharkikh, A A; Thomas, A A
Publication Date: 2006-04

Variant appearance in text: N/A
PubMed Link: 16014699
Variant Present in the following documents:
View BVdb publication page