BRCA1 c.4963T>C ;(p.S1655P)

Variant ID: 17-41222968-A-G

NM_007294.3(BRCA1):c.4963T>C;(p.S1655P)

This variant was identified in 18 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: 4963T>C; Ser1655Pro; rs1057518639
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
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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: rs1057518639
PubMed Link: 36561320
Variant Present in the following documents:
  • Table2.xlsx, sheet 2
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: 4963T>C; Ser1655Pro
PubMed Link: 36385461
Variant Present in the following documents:
  • IJC-152-1159-s010.xlsx, sheet 2
View BVdb publication page



Understanding and predicting the functional consequences of missense mutations in BRCA1 and BRCA2.

Scientific Reports
Aljarf, Raghad R; Shen, Mengyuan M; Pires, Douglas E V DEV; Ascher, David B DB
Publication Date: 2022-06-21

Variant appearance in text: BRCA1: S1655P
PubMed Link: 35729312
Variant Present in the following documents:
  • 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Value of the loss of heterozygosity to BRCA1 variant classification.

Npj Breast Cancer
Santana Dos Santos, Elizabeth E; Spurdle, Amanda B AB; Carraro, Dirce M DM; Briaux, Adrien A; Southey, Melissa M; Torrezan, Giovana G; Petitalot, Ambre A; Leman, Raphael R; Lafitte, Philippe P; , ; Meseure, Didier D; Driouch, Keltouma K; Side, Lucy L; Brewer, Carole C; Beck, Sarah S; Melville, Athalie A; Callaway, Alison A; Revillion, Françoise F; Folgueira, Maria A A Koike MAAK; Parsons, Michael T MT; Thorne, Heather H; Vincent-Salomon, Anne A; Stoppa-Lyonnet, Dominique D; Bieche, Ivan I; Caputo, Sandrine M SM; Rouleau, Etienne E
Publication Date: 2022-01-17

Variant appearance in text: BRCA1: 4963T>C; Ser1655Pro; rs1057518639
PubMed Link: 35039532
Variant Present in the following documents:
  • Main text
  • 41523_2021_Article_361.pdf
View BVdb publication page



Value of the loss of heterozygosity to BRCA1 variant classification.

Npj Breast Cancer
Santana Dos Santos, Elizabeth E; Spurdle, Amanda B AB; Carraro, Dirce M DM; Briaux, Adrien A; Southey, Melissa M; Torrezan, Giovana G; Petitalot, Ambre A; Leman, Raphael R; Lafitte, Philippe P; , ; Meseure, Didier D; Driouch, Keltouma K; Side, Lucy L; Brewer, Carole C; Beck, Sarah S; Melville, Athalie A; Callaway, Alison A; Revillion, Françoise F; Folgueira, Maria A A Koike MAAK; Parsons, Michael T MT; Thorne, Heather H; Vincent-Salomon, Anne A; Stoppa-Lyonnet, Dominique D; Bieche, Ivan I; Caputo, Sandrine M SM; Rouleau, Etienne E
Publication Date: 2022-01-17

Variant appearance in text: BRCA1: 4963T>C; Ser1655Pro; rs1057518639
PubMed Link: 35039532
Variant Present in the following documents:
  • Main text
  • 41523_2021_Article_361.pdf
View BVdb publication page



Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Loong, Lucy L; Cubuk, Cankut C; Choi, Subin S; Allen, Sophie S; Torr, Beth B; Garrett, Alice A; Loveday, Chey C; Durkie, Miranda M; Callaway, Alison A; Burghel, George J GJ; Drummond, James J; Robinson, Rachel R; Berry, Ian R IR; Wallace, Andrew A; Eccles, Diana M DM; Tischkowitz, Marc M; Ellard, Sian S; Ware, James S JS; Hanson, Helen H; Turnbull, Clare C; ,
Publication Date: 2022-03

Variant appearance in text: BRCA1: 4963T>C; S1655P
PubMed Link: 34906453
Variant Present in the following documents:
  • mmc1.xlsx, sheet 3
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: S1655P
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
View BVdb publication page



Prevalence and Spectrum of Germline BRCA1 and BRCA2 Variants of Uncertain Significance in Breast/Ovarian Cancer: Mysterious Signals From the Genome.

Frontiers In Oncology
Fanale, Daniele D; Fiorino, Alessia A; Incorvaia, Lorena L; Dimino, Alessandra A; Filorizzo, Clarissa C; Bono, Marco M; Cancelliere, Daniela D; Calò, Valentina V; Brando, Chiara C; Corsini, Lidia Rita LR; Sciacchitano, Roberta R; Magrin, Luigi L; Pivetti, Alessia A; Pedone, Erika E; Madonia, Giorgio G; Cucinella, Alessandra A; Badalamenti, Giuseppe G; Russo, Antonio A; Bazan, Viviana V
Publication Date: 2021

Variant appearance in text: BRCA1: 4963T>C
PubMed Link: 34178674
Variant Present in the following documents:
  • Main text
View BVdb publication page



Germline FFPE inherited cancer panel testing in deceased family members: implications for clinical management of unaffected relatives.

European Journal Of Human Genetics : Ejhg
Bennett, Sarah S; Alexander, Elizabeth E; Fraser, Harry H; Bowers, Naomi N; Wallace, Andrew A; Woodward, Emma R ER; Lalloo, Fiona F; Quinn, Anne Marie AM; Huang, Shuwen S; Schlecht, Helene H; Evans, D Gareth DG
Publication Date: 2021-05

Variant appearance in text: BRCA1: 4963T>C; Ser1655Pro
PubMed Link: 33654310
Variant Present in the following documents:
  • 41431_2021_817_MOESM1_ESM.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: 4963T>C; Ser1655Pro
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network.

Journal Of Medical Genetics
Garrett, Alice A; Callaway, Alison A; Durkie, Miranda M; Cubuk, Cankut C; Alikian, Mary M; Burghel, George J GJ; Robinson, Rachel R; Izatt, Louise L; Talukdar, Sabrina S; Side, Lucy L; Cranston, Treena T; Palmer-Smith, Sheila S; Baralle, Diana D; Berry, Ian R IR; Drummond, James J; Wallace, Andrew J AJ; Norbury, Gail G; Eccles, Diana M DM; Ellard, Sian S; Lalloo, Fiona F; Evans, D Gareth DG; Woodward, Emma E; Tischkowitz, Marc M; Hanson, Helen H; Turnbull, Clare C; ,
Publication Date: 2020-12

Variant appearance in text: BRCA1: 4963T>C; Ser1655Pro
PubMed Link: 32170000
Variant Present in the following documents:
  • jmedgenet-2019-106759supp002.pdf
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: 4963T>C; S1655P; rs1057518639
PubMed Link: 31911673
Variant Present in the following documents:
  • 41436_2019_740_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

Human Mutation
Parsons, Michael T MT; Tudini, Emma E; Li, Hongyan H; Hahnen, Eric E; Wappenschmidt, Barbara B; Feliubadaló, Lidia L; Aalfs, Cora M CM; Agata, Simona S; Aittomäki, Kristiina K; Alducci, Elisa E; Alonso-Cerezo, María Concepción MC; Arnold, Norbert N; Auber, Bernd B; Austin, Rachel R; Azzollini, Jacopo J; Balmaña, Judith J; Barbieri, Elena E; Bartram, Claus R CR; Blanco, Ana A; Blümcke, Britta B; Bonache, Sandra S; Bonanni, Bernardo B; Borg, Åke Å; Bortesi, Beatrice B; Brunet, Joan J; Bruzzone, Carla C; Bucksch, Karolin K; Cagnoli, Giulia G; Caldés, Trinidad T; Caliebe, Almuth A; Caligo, Maria A MA; Calvello, Mariarosaria M; Capone, Gabriele L GL; Caputo, Sandrine M SM; Carnevali, Ileana I; Carrasco, Estela E; Caux-Moncoutier, Virginie V; Cavalli, Pietro P; Cini, Giulia G; Clarke, Edward M EM; Concolino, Paola P; Cops, Elisa J EJ; Cortesi, Laura L; Couch, Fergus J FJ; Darder, Esther E; de la Hoya, Miguel M; Dean, Michael M; Debatin, Irmgard I; Del Valle, Jesús J; Delnatte, Capucine C; Derive, Nicolas N; Diez, Orland O; Ditsch, Nina N; Domchek, Susan M SM; Dutrannoy, Véronique V; Eccles, Diana M DM; Ehrencrona, Hans H; Enders, Ute U; Evans, D Gareth DG; Farra, Chantal C; Faust, Ulrike U; Felbor, Ute U; Feroce, Irene I; Fine, Miriam M; Foulkes, William D WD; Galvao, Henrique C R HCR; Gambino, Gaetana G; Gehrig, Andrea A; Gensini, Francesca F; Gerdes, Anne-Marie AM; Germani, Aldo A; Giesecke, Jutta J; Gismondi, Viviana V; Gómez, Carolina C; Gómez Garcia, Encarna B EB; González, Sara S; Grau, Elia E; Grill, Sabine S; Gross, Eva E; Guerrieri-Gonzaga, Aliana A; Guillaud-Bataille, Marine M; Gutiérrez-Enríquez, Sara S; Haaf, Thomas T; Hackmann, Karl K; Hansen, Thomas V O TVO; Harris, Marion M; Hauke, Jan J; Heinrich, Tilman T; Hellebrand, Heide H; Herold, Karen N KN; Honisch, Ellen E; Horvath, Judit J; Houdayer, Claude C; Hübbel, Verena V; Iglesias, Silvia S; Izquierdo, Angel A; James, Paul A PA; Janssen, Linda A M LAM; Jeschke, Udo U; Kaulfuß, Silke S; Keupp, Katharina K; Kiechle, Marion M; Kölbl, Alexandra A; Krieger, Sophie S; Kruse, Torben A TA; Kvist, Anders A; Lalloo, Fiona F; Larsen, Mirjam M; Lattimore, Vanessa L VL; Lautrup, Charlotte C; Ledig, Susanne S; Leinert, Elena E; Lewis, Alexandra L AL; Lim, Joanna J; Loeffler, Markus M; López-Fernández, Adrià A; Lucci-Cordisco, Emanuela E; Maass, Nicolai N; Manoukian, Siranoush S; Marabelli, Monica M; Matricardi, Laura L; Meindl, Alfons A; Michelli, Rodrigo D RD; Moghadasi, Setareh S; Moles-Fernández, Alejandro A; Montagna, Marco M; Montalban, Gemma G; Monteiro, Alvaro N AN; Montes, Eva E; Mori, Luigi L; Moserle, Lidia L; Müller, Clemens R CR; Mundhenke, Christoph C; Naldi, Nadia N; Nathanson, Katherine L KL; Navarro, Matilde M; Nevanlinna, Heli H; Nichols, Cassandra B CB; Niederacher, Dieter D; Nielsen, Henriette R HR; Ong, Kai-Ren KR; Pachter, Nicholas N; Palmero, Edenir I EI; Papi, Laura L; Pedersen, Inge Sokilde IS; Peissel, Bernard B; Perez-Segura, Pedro P; Pfeifer, Katharina K; Pineda, Marta M; Pohl-Rescigno, Esther E; Poplawski, Nicola K NK; Porfirio, Berardino B; Quante, Anne S AS; Ramser, Juliane J; Reis, Rui M RM; Revillion, Françoise F; Rhiem, Kerstin K; Riboli, Barbara B; Ritter, Julia J; Rivera, Daniela D; Rofes, Paula P; Rump, Andreas A; Salinas, Monica M; Sánchez de Abajo, Ana María AM; Schmidt, Gunnar G; Schoenwiese, Ulrike U; Seggewiß, Jochen J; Solanes, Ares A; Steinemann, Doris D; Stiller, Mathias M; Stoppa-Lyonnet, Dominique D; Sullivan, Kelly J KJ; Susman, Rachel R; Sutter, Christian C; Tavtigian, Sean V SV; Teo, Soo H SH; Teulé, Alex A; Thomassen, Mads M; Tibiletti, Maria Grazia MG; Tischkowitz, Marc M; Tognazzo, Silvia S; Toland, Amanda E AE; Tornero, Eva E; Törngren, Therese T; Torres-Esquius, Sara S; Toss, Angela A; Trainer, Alison H AH; Tucker, Katherine M KM; van Asperen, Christi J CJ; van Mackelenbergh, Marion T MT; Varesco, Liliana L; Vargas-Parra, Gardenia G; Varon, Raymonda R; Vega, Ana A; Velasco, Ángela Á; Vesper, Anne-Sophie AS; Viel, Alessandra A; Vreeswijk, Maaike P G MPG; Wagner, Sebastian A SA; Waha, Anke A; Walker, Logan C LC; Walters, Rhiannon J RJ; Wang-Gohrke, Shan S; Weber, Bernhard H F BHF; Weichert, Wilko W; Wieland, Kerstin K; Wiesmüller, Lisa L; Witzel, Isabell I; Wöckel, Achim A; Woodward, Emma R ER; Zachariae, Silke S; Zampiga, Valentina V; Zeder-Göß, Christine C; , ; Lázaro, Conxi C; De Nicolo, Arcangela A; Radice, Paolo P; Engel, Christoph C; Schmutzler, Rita K RK; Goldgar, David E DE; Spurdle, Amanda B AB
Publication Date: 2019-09

Variant appearance in text: BRCA1: 4963T>C; S1655P
PubMed Link: 31131967
Variant Present in the following documents:
  • HUMU-40-1557-s001.xlsx, sheet 1
View BVdb publication page



Accurate classification of BRCA1 variants with saturation genome editing.

Nature
Findlay, Gregory M GM; Daza, Riza M RM; Martin, Beth B; Zhang, Melissa D MD; Leith, Anh P AP; Gasperini, Molly M; Janizek, Joseph D JD; Huang, Xingfan X; Starita, Lea M LM; Shendure, Jay J
Publication Date: 2018-10

Variant appearance in text: BRCA1: 4963T>C; S1655P
PubMed Link: 30209399
Variant Present in the following documents:
  • NIHMS1501643-supplement-2.xlsx, sheet 1
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: S1655P
PubMed Link: 29884841
Variant Present in the following documents:
  • NIHMS953431-supplement-Table_S2.xls, sheet 1
View BVdb publication page



Complex Landscape of Germline Variants in Brazilian Patients With Hereditary and Early Onset Breast Cancer.

Frontiers In Genetics
Torrezan, Giovana T GT; de Almeida, Fernanda G Dos Santos R FGDSR; Figueiredo, Márcia C P MCP; Barros, Bruna D de Figueiredo BDF; de Paula, Cláudia A A CAA; Valieris, Renan R; de Souza, Jorge E S JES; Ramalho, Rodrigo F RF; da Silva, Felipe C C FCC; Ferreira, Elisa N EN; de Nóbrega, Amanda F AF; Felicio, Paula S PS; Achatz, Maria I MI; de Souza, Sandro J SJ; Palmero, Edenir I EI; Carraro, Dirce M DM
Publication Date: 2018

Variant appearance in text: BRCA1: 4963T>C; Ser1655Pro
PubMed Link: 29868112
Variant Present in the following documents:
  • Main text
  • fgene-09-00161.pdf
View BVdb publication page



DNA methylation profiling to assess pathogenicity of BRCA1 unclassified variants in breast cancer.

Epigenetics
Flower, Kirsty J KJ; Shenker, Natalie S NS; El-Bahrawy, Mona M; Goldgar, David E DE; Parsons, Michael T MT; , ; , ; Spurdle, Amanda B AB; Morris, Joanna R JR; Brown, Robert R; Flanagan, James M JM
Publication Date: 2015

Variant appearance in text: BRCA1: 4963T>C; Ser1655Pro
PubMed Link: 26727311
Variant Present in the following documents:
  • Main text
  • kepi-10-12-1111504.pdf
View BVdb publication page



Comprehensive analysis of BRCA1, BRCA2 and TP53 germline mutation and tumor characterization: a portrait of early-onset breast cancer in Brazil.

Plos One
Carraro, Dirce Maria DM; Koike Folgueira, Maria Aparecida Azevedo MA; Garcia Lisboa, Bianca Cristina BC; Ribeiro Olivieri, Eloisa Helena EH; Vitorino Krepischi, Ana Cristina AC; de Carvalho, Alex Fiorini AF; de Carvalho Mota, Louise Danielle LD; Puga, Renato David RD; do Socorro Maciel, Maria M; Michelli, Rodrigo Augusto Depieri RA; de Lyra, Eduardo Carneiro EC; Grosso, Stana Helena Giorgi SH; Soares, Fernando Augusto FA; Achatz, Maria Isabel Alves de Souza Waddington MI; Brentani, Helena H; Moreira-Filho, Carlos Alberto CA; Brentani, Maria Mitzi MM
Publication Date: 2013

Variant appearance in text: BRCA1: S1655P
PubMed Link: 23469205
Variant Present in the following documents:
  • Main text
  • pone.0057581.pdf
View BVdb publication page