Publications:

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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: T826K

PubMed Link: 36896237

Variant Present in the following documents:

• Table1.xlsx, sheet 1

View BVdb publication page

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Genetic variants in African-American and Hispanic patients with breast cancer.

Oncology Letters

Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV

Publication Date: 2023-02

Variant appearance in text: BRCA1: T826K

PubMed Link: 36644153

Variant Present in the following documents:

• Supplementary_Data5.xlsx, sheet 1
• ol-25-02-13637.pdf

View BVdb publication page

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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: rs28897683

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 2

View BVdb publication page

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High p16 expression and heterozygous RB1 loss are biomarkers for CDK4/6 inhibitor resistance in ER+ breast cancer.

Nature Communications

Palafox, Marta M; Monserrat, Laia L; Bellet, Meritxell M; Villacampa, Guillermo G; Gonzalez-Perez, Abel A; Oliveira, Mafalda M; Brasó-Maristany, Fara F; Ibrahimi, Nusaibah N; Kannan, Srinivasaraghavan S; Mina, Leonardo L; Herrera-Abreu, Maria Teresa MT; Òdena, Andreu A; Sánchez-Guixé, Mònica M; Capelán, Marta M; Azaro, Analía A; Bruna, Alejandra A; Rodríguez, Olga O; Guzmán, Marta M; Grueso, Judit J; Viaplana, Cristina C; Hernández, Javier J; Su, Faye F; Lin, Kui K; Clarke, Robert B RB; Caldas, Carlos C; Arribas, Joaquín J; Michiels, Stefan S; García-Sanz, Alicia A; Turner, Nicholas C NC; Prat, Aleix A; Nuciforo, Paolo P; Dienstmann, Rodrigo R; Verma, Chandra S CS; Lopez-Bigas, Nuria N; Scaltriti, Maurizio M; Arnedos, Monica M; Saura, Cristina C; Serra, Violeta V

Publication Date: 2022-09-07

Variant appearance in text: BRCA1: 2477C>A; T826K

PubMed Link: 36071033

Variant Present in the following documents:

• 41467_2022_32828_MOESM4_ESM.xlsx, sheet 3

View BVdb publication page

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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: T826K

PubMed Link: 35729312

Variant Present in the following documents:

• 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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JAK3 mutations and mitochondrial apoptosis resistance in T-cell acute lymphoblastic leukemia.

Leukemia

Bodaar, Kimberly K; Yamagata, Natsuko N; Barthe, Anais A; Landrigan, Jack J; Chonghaile, Triona Ni TN; Burns, Melissa M; Stevenson, Kristen E KE; Devidas, Meenakshi M; Loh, Mignon L ML; Hunger, Stephen P SP; Wood, Brent B; Silverman, Lewis B LB; Teachey, David T DT; Meijerink, Jules P JP; Letai, Anthony A; Gutierrez, Alejandro A

Publication Date: 2022-06

Variant appearance in text: BRCA1: 2477C>A; T826K

PubMed Link: 35411095

Variant Present in the following documents:

• NIHMS1792675-supplement-Supplementary_Table_2.xlsx, sheet 1

View BVdb publication page

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Human BRCA pathogenic variants were originated during recent human history.

Life Science Alliance

Li, Jiaheng J; Zhao, Bojin B; Huang, Teng T; Qin, Zixin Z; Wang, San Ming SM

Publication Date: 2022-05

Variant appearance in text: BRCA1: 2477C>A; T826K

PubMed Link: 35165121

Variant Present in the following documents:

• LSA-2021-01263_TableS1.xlsx, sheet 1

View BVdb publication page

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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: 2477C>A; Thr826Lys

PubMed Link: 35039532

Variant Present in the following documents:

• Main text
• 41523_2021_Article_361.pdf

View BVdb publication page

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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: 2477C>A; Thr826Lys

PubMed Link: 35039532

Variant Present in the following documents:

• Main text
• 41523_2021_Article_361.pdf

View BVdb publication page

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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: T826K; rs28897683

PubMed Link: 34373545

Variant Present in the following documents:

• 41598_2021_95618_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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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: 2477C>A; Thr826Lys; rs28897683

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 6
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 3
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Pathogenicity assessment of variants for breast cancer susceptibility genes based on BRCAness of tumor sample.

Cancer Science

Yoshida, Reiko R; Hagio, Taichi T; Kaneyasu, Tomoko T; Gotoh, Osamu O; Osako, Tomo T; Tanaka, Norio N; Amino, Sayuri S; Yaguchi, Noriko N; Nakashima, Eri E; Kitagawa, Dai D; Ueno, Takayuki T; Ohno, Shinji S; Nakajima, Takeshi T; Nakamura, Seigo S; Miki, Yoshio Y; Hirota, Toru T; Takahashi, Shunji S; Matsuura, Masaaki M; Noda, Tetsuo T; Mori, Seiichi S

Publication Date: 2021-03

Variant appearance in text: BRCA1: T826K

PubMed Link: 33421217

Variant Present in the following documents:

• CAS-112-1310-s003.xlsx, sheet 1

View BVdb publication page

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Germline Mutations in DNA Repair Genes in Patients With Metastatic Castration-resistant Prostate Cancer.

In Vivo (Athens, Greece)

Holeckova, Klaudia K; Baluchova, Katarina K; Hives, Mark M; Musak, Ludovit L; Kliment, Jan J; Skerenova, Maria M

Publication Date: 2020

Variant appearance in text: BRCA1: Thr826Lys; rs28897683

PubMed Link: 32606146

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 2477C>A; Thr826Lys

PubMed Link: 32377563

Variant Present in the following documents:

• 41523_2020_159_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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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: 2477C>A; T826K; rs28897683

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

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TAPES: A tool for assessment and prioritisation in exome studies.

Plos Computational Biology

Xavier, Alexandre A; Scott, Rodney J RJ; Talseth-Palmer, Bente A BA

Publication Date: 2019-10

Variant appearance in text: BRCA1: T826K; rs28897683

PubMed Link: 31613886

Variant Present in the following documents:

• pcbi.1007453.s002.xlsx, sheet 1
• pcbi.1007453.s004.xlsx, sheet 2

View BVdb publication page

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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: 2477C>A; T826K

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Evaluation of the contribution of germline variants in BRCA1 and BRCA2 to uveal and cutaneous melanoma.

Melanoma Research

Johansson, Peter A PA; Nathan, Vaishnavi V; Bourke, Lauren M LM; Palmer, Jane M JM; Zhang, Tongwu T; Symmons, Judith J; Howlie, Madeleine M; Patch, Ann-Marie AM; Read, Jazlyn J; Holland, Elizabeth A EA; Schmid, Helen H; Warrier, Sunil S; Glasson, William W; Höiom, Veronica V; Wadt, Karin K; Jönsson, Göran G; Olsson, Håkan H; Ingvar, Christian C; Mann, Graham G; Brown, Kevin M KM; Hayward, Nicholas K NK; Pritchard, Antonia L AL

Publication Date: 2019-10

Variant appearance in text: rs28897683

PubMed Link: 31464824

Variant Present in the following documents:

• Main text

View BVdb publication page

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Oncologist uptake of comprehensive genomic profile guided targeted therapy.

Oncotarget

Nesline, Mary K MK; DePietro, Paul P; Dy, Grace K GK; Early, Amy A; Papanicolau-Sengos, Antonios A; Conroy, Jeffrey M JM; Lenzo, Felicia L FL; Glenn, Sean T ST; Chen, Hongbin H; Grand'Maison, Anne A; Boland, Patrick P; Ernstoff, Marc S MS; Puzanov, Igor I; Edge, Stephen S; Akers, Stacey S; Opyrchal, Mateusz M; Chatta, Gurkamal G; Odunsi, Kunle K; Frederick, Peter P; Lele, Shashikant S; Gardner, Mark M; Morrison, Carl C

Publication Date: 2019-07-23

Variant appearance in text: BRCA1: 2477C>A; T826K

PubMed Link: 31384390

Variant Present in the following documents:

• oncotarget-10-4616-s003.xlsx, sheet 1

View BVdb publication page

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Analysis of the pathogenic variants of BRCA1 and BRCA2 using next-generation sequencing in women with familial breast cancer: a case-control study.

Bmc Cancer

Zayas-Villanueva, Omar Alejandro OA; Campos-Acevedo, Luis Daniel LD; Lugo-Trampe, José de Jesús JJ; Hernández-Barajas, David D; González-Guerrero, Juan Francisco JF; Noriega-Iriondo, María Fernanda MF; Ramírez-Sánchez, Ilse Alejandra IA; Martínez-de-Villarreal, Laura Elia LE

Publication Date: 2019-07-22

Variant appearance in text: rs28897683

PubMed Link: 31331294

Variant Present in the following documents:

• 12885_2019_5950_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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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: T826K

PubMed Link: 31034466

Variant Present in the following documents:

• pcbi.1006981.s010.xlsx, sheet 1

View BVdb publication page

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PRC2 loss induces chemoresistance by repressing apoptosis in T cell acute lymphoblastic leukemia.

The Journal Of Experimental Medicine

Ariës, Ingrid M IM; Bodaar, Kimberly K; Karim, Salmaan A SA; Chonghaile, Triona Ni TN; Hinze, Laura L; Burns, Melissa A MA; Pfirrmann, Maren M; Degar, James J; Landrigan, Jack T JT; Balbach, Sebastian S; Peirs, Sofie S; Menten, Björn B; Isenhart, Randi R; Stevenson, Kristen E KE; Neuberg, Donna S DS; Devidas, Meenakshi M; Loh, Mignon L ML; Hunger, Stephen P SP; Teachey, David T DT; Rabin, Karen R KR; Winter, Stuart S SS; Dunsmore, Kimberly P KP; Wood, Brent L BL; Silverman, Lewis B LB; Sallan, Stephen E SE; Van Vlierberghe, Pieter P; Orkin, Stuart H SH; Knoechel, Birgit B; Letai, Anthony G AG; Gutierrez, Alejandro A

Publication Date: 2018-12-03

Variant appearance in text: BRCA1: 2477C>A; T826K

PubMed Link: 30404791

Variant Present in the following documents:

• JEM_20180570_TableS4.xlsx, sheet 1

View BVdb publication page

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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: 2477C>A; T826K

PubMed Link: 30212499

Variant Present in the following documents:

• pone.0203553.s008.xlsx, sheet 2

View BVdb publication page

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The prognostic effects of somatic mutations in ER-positive breast cancer.

Nature Communications

Griffith, Obi L OL; Spies, Nicholas C NC; Anurag, Meenakshi M; Griffith, Malachi M; Luo, Jingqin J; Tu, Dongsheng D; Yeo, Belinda B; Kunisaki, Jason J; Miller, Christopher A CA; Krysiak, Kilannin K; Hundal, Jasreet J; Ainscough, Benjamin J BJ; Skidmore, Zachary L ZL; Campbell, Katie K; Kumar, Runjun R; Fronick, Catrina C; Cook, Lisa L; Snider, Jacqueline E JE; Davies, Sherri S; Kavuri, Shyam M SM; Chang, Eric C EC; Magrini, Vincent V; Larson, David E DE; Fulton, Robert S RS; Liu, Shuzhen S; Leung, Samuel S; Voduc, David D; Bose, Ron R; Dowsett, Mitch M; Wilson, Richard K RK; Nielsen, Torsten O TO; Mardis, Elaine R ER; Ellis, Matthew J MJ

Publication Date: 2018-09-04

Variant appearance in text: BRCA1: T826K

PubMed Link: 30181556

Variant Present in the following documents:

• 41467_2018_5914_MOESM6_ESM.xlsx, sheet 5
• 41467_2018_5914_MOESM6_ESM.xlsx, sheet 8
• 41467_2018_5914_MOESM6_ESM.xlsx, sheet 6
• 41467_2018_5914_MOESM6_ESM.xlsx, sheet 12
• 41467_2018_5914_MOESM6_ESM.xlsx, sheet 9
• 41467_2018_5914_MOESM6_ESM.xlsx, sheet 10
• 41467_2018_5914_MOESM12_ESM.xlsx, sheet 1

View BVdb publication page

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A new bioinformatics tool to help assess the significance of BRCA1 variants.

Human Genomics

Cusin, Isabelle I; Teixeira, Daniel D; Zahn-Zabal, Monique M; Rech de Laval, Valentine V; Gleizes, Anne A; Viassolo, Valeria V; Chappuis, Pierre O PO; Hutter, Pierre P; Bairoch, Amos A; Gaudet, Pascale P

Publication Date: 2018-07-11

Variant appearance in text: BRCA1: Thr826Lys

PubMed Link: 29996917

Variant Present in the following documents:

• Main text
• 40246_2018_Article_168.pdf

View BVdb publication page

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Subependymal giant cell astrocytoma-like astrocytoma: a neoplasm with a distinct phenotype and frequent neurofibromatosis type-1-association.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Palsgrove, Doreen N DN; Brosnan-Cashman, Jacqueline A JA; Giannini, Caterina C; Raghunathan, Aditya A; Jentoft, Mark M; Bettegowda, Chetan C; Gokden, Murat M; Lin, Doris D; Yuan, Ming M; Lin, Ming-Tseh MT; Heaphy, Christopher M CM; Rodriguez, Fausto J FJ

Publication Date: 2018-12

Variant appearance in text: BRCA1: T826K; rs28897683

PubMed Link: 29973652

Variant Present in the following documents:

• NIHMS972465-supplement-1.xlsx, sheet 1
• NIHMS972465-supplement-2.xlsx, sheet 1

View BVdb publication page

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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: T826K

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

View BVdb publication page

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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: rs28897683

PubMed Link: 29641532

Variant Present in the following documents:

• pone.0194098.s003.xlsx, sheet 2

View BVdb publication page

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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: T826K

PubMed Link: 29580235

Variant Present in the following documents:

• 12920_2018_353_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine

Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T

Publication Date: 2017-07-18

Variant appearance in text: rs28897683

PubMed Link: 28716134

Variant Present in the following documents:

• 13073_2017_454_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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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: 2477C>A; Thr826Lys

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine.

Bmc Medical Genomics

Fang, Han H; Wu, Yiyang Y; Yang, Hui H; Yoon, Margaret M; Jiménez-Barrón, Laura T LT; Mittelman, David D; Robison, Reid R; Wang, Kai K; Lyon, Gholson J GJ

Publication Date: 2017-02-23

Variant appearance in text: BRCA1: 2477C>A; T826K

PubMed Link: 28228131

Variant Present in the following documents:

• 12920_2017_246_MOESM2_ESM.pdf

View BVdb publication page

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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: T826K

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s5.xls, sheet 1

View BVdb publication page

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A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer.

Bmc Medical Genomics

Mucaki, Eliseos J EJ; Caminsky, Natasha G NG; Perri, Ami M AM; Lu, Ruipeng R; Laederach, Alain A; Halvorsen, Matthew M; Knoll, Joan H M JH; Rogan, Peter K PK

Publication Date: 2016-04-11

Variant appearance in text: BRCA1: 2477C>A; Thr826Lys; rs28897683

PubMed Link: 27067391

Variant Present in the following documents:

• 12920_2016_178_MOESM12_ESM.xlsx, sheet 1
• 12920_2016_178_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry

Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE

Publication Date: 2016-12

Variant appearance in text: BRCA1: T826K; rs28897683

PubMed Link: 27001614

Variant Present in the following documents:

• NIHMS753666-supplement-2.xlsx, sheet 8

View BVdb publication page

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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: T826K

PubMed Link: 26689913

Variant Present in the following documents:

• ncomms10086.pdf
• ncomms10086-s22.xlsx, sheet 1
• ncomms10086-s24.xlsx, sheet 1
• ncomms10086-s13.xlsx, sheet 1
• ncomms10086-s1.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs28897683

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Addressing health disparities in Hispanic breast cancer: accurate and inexpensive sequencing of BRCA1 and BRCA2.

Gigascience

Dean, Michael M; Boland, Joseph J; Yeager, Meredith M; Im, Kate M KM; Garland, Lisa L; Rodriguez-Herrera, Maria M; Perez, Mylen M; Mitchell, Jason J; Roberson, David D; Jones, Kristine K; Lee, Hyo Jung HJ; Eggebeen, Rebecca R; Sawitzke, Julie J; Bass, Sara S; Zhang, Xijun X; Robles, Vivian V; Hollis, Celia C; Barajas, Claudia C; Rath, Edna E; Arentz, Candy C; Figueroa, Jose A JA; Nguyen, Diane D DD; Nahleh, Zeina Z

Publication Date: 2015

Variant appearance in text: BRCA1: 2477C>A; T826K; rs28897683

PubMed Link: 26543556

Variant Present in the following documents:

• Main text
• 13742_2015_Article_88.pdf

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: BRCA1: T826K

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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De novo mutations in moderate or severe intellectual disability.

Plos Genetics

Hamdan, Fadi F FF; Srour, Myriam M; Capo-Chichi, Jose-Mario JM; Daoud, Hussein H; Nassif, Christina C; Patry, Lysanne L; Massicotte, Christine C; Ambalavanan, Amirthagowri A; Spiegelman, Dan D; Diallo, Ousmane O; Henrion, Edouard E; Dionne-Laporte, Alexandre A; Fougerat, Anne A; Pshezhetsky, Alexey V AV; Venkateswaran, Sunita S; Rouleau, Guy A GA; Michaud, Jacques L JL

Publication Date: 2014-10

Variant appearance in text: BRCA1: T826K

PubMed Link: 25356899

Variant Present in the following documents:

• pgen.1004772.s004.xlsx, sheet 28

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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: T826K

PubMed Link: 25348012

Variant Present in the following documents:

• 13059_2014_484_MOESM2_ESM.xlsx, sheet 1

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Estimation of the RNU2 macrosatellite mutation rate by BRCA1 mutation tracing.

Nucleic Acids Research

Tessereau, Chloé C; Lesecque, Yann Y; Monnet, Nastasia N; Buisson, Monique M; Barjhoux, Laure L; Léoné, Mélanie M; Feng, Bingjian B; Goldgar, David E DE; Sinilnikova, Olga M OM; Mousset, Sylvain S; Duret, Laurent L; Mazoyer, Sylvie S

Publication Date: 2014-08

Variant appearance in text: rs28897683

PubMed Link: 25034697

Variant Present in the following documents:

• supp_gku639_nar-00908-d-2014-File008.xlsx, sheet 1

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Role of rare variants in undetermined multiple adenomatous polyposis and early-onset colorectal cancer.

Journal Of Human Genetics

Lefevre, Jérémie H JH; Bonilla, Carolina C; Colas, Chrystelle C; Winney, Bruce B; Johnstone, Elaine E; Tonks, Susan S; Day, Tammy T; Hutnik, Katarzyna K; Boumertit, Abdelhamid A; Soubrier, Florent F; Midgley, Rachel R; Kerr, David D; Parc, Yann Y; Bodmer, Walter F WF

Publication Date: 2012-11-26

Variant appearance in text: rs28897683

PubMed Link: 22875147

Variant Present in the following documents:

• Main text

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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: BRCA1: Thr826Lys

PubMed Link: 22753008

Variant Present in the following documents:

• Main text

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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: 2477C>A; Thr826Lys

PubMed Link: 21990134

Variant Present in the following documents:

• Main text

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A role of BRCA1 and BRCA2 germline mutations in breast cancer susceptibility within Sardinian population.

Bmc Cancer

Palomba, Grazia G; Loi, Angela A; Uras, Antonella A; Fancello, Patrizia P; Piras, Giovanna G; Gabbas, Attilio A; Cossu, Antonio A; Budroni, Mario M; Contu, Antonio A; Tanda, Francesco F; Farris, Antonio A; Orrù, Sandra S; Floris, Carlo C; Pisano, Marina M; Lovicu, Mario M; Santona, Maria Cristina MC; Landriscina, Gennaro G; Crisponi, Laura L; Palmieri, Giuseppe G; Monne, Maria M

Publication Date: 2009-07-20

Variant appearance in text: BRCA1: T826K

PubMed Link: 19619314

Variant Present in the following documents:

• Main text
• 1471-2407-9-245.pdf

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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: BRCA1: T826K

PubMed Link: 16905680

Variant Present in the following documents:

• Main text

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