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: S186Y

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: 557C>A

PubMed Link: 36865205

Variant Present in the following documents:

• media-10.xlsx, sheet 1

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: rs55688530

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: 557C>A; Ser186Tyr

PubMed Link: 36385461

Variant Present in the following documents:

• IJC-152-1159-s002.xlsx, sheet 1
• IJC-152-1159-s006.xlsx, sheet 2

View BVdb publication page

---

Familial history and prevalence of BRCA1, BRCA2 and TP53 pathogenic variants in HBOC Brazilian patients from a public healthcare service.

Scientific Reports

Matta, Bruna Palma BP; Gomes, Renan R; Mattos, Daniel D; Olicio, Renata R; Nascimento, Caroline Macedo CM; Ferreira, Gerson Moura GM; Brant, Ayslan Castro AC; Boroni, Mariana M; Furtado, Carolina C; Lima, Valdirene V; Moreira, Miguel Ângelo Martins MÂM; Dos Santos, Anna Cláudia Evangelista ACE

Publication Date: 2022-11-03

Variant appearance in text: BRCA1: 557C>A; S186Y; rs55688530

PubMed Link: 36329109

Variant Present in the following documents:

• 41598_2022_23012_MOESM2_ESM.xlsx, sheet 1

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: S186Y

PubMed Link: 35729312

Variant Present in the following documents:

• 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: BRCA1: S186Y; rs55688530

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

---

Characterization of Synonymous BRCA1:c.132C>T as a Pathogenic Variant.

Frontiers In Oncology

Li, Jun J; Wang, Ping P; Zhang, Cuiyun C; Han, Sile S; Xiao, Han H; Liu, Zhiyuan Z; Wang, Xiaoyan X; Liu, Weiling W; Wei, Bing B; Ma, Jie J; Li, Hongle H; Guo, Yongjun Y

Publication Date: 2021

Variant appearance in text: BRCA1: 557C>A

PubMed Link: 35087763

Variant Present in the following documents:

• Main text
• fonc-11-812656.pdf

View BVdb publication page

---

BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories.

Familial Cancer

Hovland, Henrikke N HN; Al-Adhami, Rafal R; Ariansen, Sarah Louise SL; Van Ghelue, Marijke M; Sjursen, Wenche W; Lima, Sigrid S; Bolstad, Marte M; Berger, Amund H AH; Høberg-Vetti, Hildegunn H; Knappskog, Per P; Haukanes, Bjørn Ivar BI; Aukrust, Ingvild I; Ognedal, Elisabet E

Publication Date: 2022-10

Variant appearance in text: BRCA1: 557C>A

PubMed Link: 34981296

Variant Present in the following documents:

• 10689_2021_Article_286.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: 557C>A; Ser186Tyr; rs55688530

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

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: 557C>A; Ser186Tyr

PubMed Link: 32377563

Variant Present in the following documents:

• 41523_2020_159_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: BRCA1: 557C>A; Ser186Tyr; rs55688530

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_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: 557C>A; S186Y; rs55688530

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: 557C>A; S186Y; rs55688530

PubMed Link: 31874108

Variant Present in the following documents:

• jci-130-132031-s100.xlsx, sheet 1

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: 557C>A; S186Y

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

A research-based gene panel to investigate breast, ovarian and prostate cancer genetic risk.

Plos One

Bishop, Madison R MR; Huskey, Anna L W ALW; Hetzel, John J; Merner, Nancy D ND

Publication Date: 2019

Variant appearance in text: BRCA1: 557C>A; S186Y

PubMed Link: 31415627

Variant Present in the following documents:

• Main text
• pone.0220929.pdf

View BVdb publication page

---

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: BRCA1: Ser186Tyr; rs55688530

PubMed Link: 31331294

Variant Present in the following documents:

• Main text
• 12885_2019_Article_5950.pdf
• 12885_2019_5950_MOESM1_ESM.xlsx, sheet 3

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: S186Y

PubMed Link: 31034466

Variant Present in the following documents:

• pcbi.1006981.s010.xlsx, sheet 1

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: 557C>A; Ser186Tyr

PubMed Link: 30630528

Variant Present in the following documents:

• 40246_2018_188_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Genetics of breast cancer in African populations: a literature review.

Global Health, Epidemiology And Genomics

Abbad, A A; Baba, H H; Dehbi, H H; Elmessaoudi-Idrissi, M M; Elyazghi, Z Z; Abidi, O O; Radouani, F F

Publication Date: 2018

Variant appearance in text: BRCA1: 557C>A

PubMed Link: 30263132

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?

Frontiers In Genetics

Moles-Fernández, Alejandro A; Duran-Lozano, Laura L; Montalban, Gemma G; Bonache, Sandra S; López-Perolio, Irene I; Menéndez, Mireia M; Santamariña, Marta M; Behar, Raquel R; Blanco, Ana A; Carrasco, Estela E; López-Fernández, Adrià A; Stjepanovic, Neda N; Balmaña, Judith J; Capellá, Gabriel G; Pineda, Marta M; Vega, Ana A; Lázaro, Conxi C; de la Hoya, Miguel M; Diez, Orland O; Gutiérrez-Enríquez, Sara S

Publication Date: 2018

Variant appearance in text: BRCA1: 557C>A

PubMed Link: 30233647

Variant Present in the following documents:

• Main text

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: 557C>A; S186Y

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: S186Y

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

View BVdb publication page

---

Rare germline mutations in African American men diagnosed with early-onset prostate cancer.

The Prostate

Beebe-Dimmer, Jennifer L JL; Zuhlke, Kimberly A KA; Johnson, Anna M AM; Liesman, Daniel D; Cooney, Kathleen A KA

Publication Date: 2018-04

Variant appearance in text: BRCA1: 557C>A; S186Y; rs55688530

PubMed Link: 29356034

Variant Present in the following documents:

• Main text

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: 557C>A; Ser186Tyr

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

---

Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: rs55688530

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 6
• srep46105-s2.xls, sheet 8

View BVdb publication page

---

Integrated tumor and germline whole-exome sequencing identifies mutations in MAPK and PI3K pathway genes in an adolescent with rosette-forming glioneuronal tumor of the fourth ventricle.

Cold Spring Harbor Molecular Case Studies

Lin, Frank Y FY; Bergstrom, Katie K; Person, Richard R; Bavle, Abhishek A; Ballester, Leomar Y LY; Scollon, Sarah S; Raesz-Martinez, Robin R; Jea, Andrew A; Birchansky, Sherri S; Wheeler, David A DA; Berg, Stacey L SL; Chintagumpala, Murali M MM; Adesina, Adekunle M AM; Eng, Christine C; Roy, Angshumoy A; Plon, Sharon E SE; Parsons, D Williams DW

Publication Date: 2016-09

Variant appearance in text: BRCA1: 557C>A; S186Y; rs55688530

PubMed Link: 27626068

Variant Present in the following documents:

• supp_mcs.a001057_Supplemental_Tables_1-2.pdf

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: S186Y

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

View BVdb publication page

---

Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: BRCA1: S186Y

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

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: 557C>A; S186Y

PubMed Link: 26913838

Variant Present in the following documents:

• HUMU-37-627-s002.xlsx, sheet 1
• 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: S186Y

PubMed Link: 26689913

Variant Present in the following documents:

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

View BVdb publication page

---

Identification of Medically Actionable Secondary Findings in the 1000 Genomes.

Plos One

Olfson, Emily E; Cottrell, Catherine E CE; Davidson, Nicholas O NO; Gurnett, Christina A CA; Heusel, Jonathan W JW; Stitziel, Nathan O NO; Chen, Li-Shiun LS; Hartz, Sarah S; Nagarajan, Rakesh R; Saccone, Nancy L NL; Bierut, Laura J LJ

Publication Date: 2015

Variant appearance in text: BRCA1: 557C>A; Ser186Tyr; rs55688530

PubMed Link: 26332594

Variant Present in the following documents:

• pone.0135193.s002.xls, sheet 1

View BVdb publication page

---

Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: BRCA1: S186Y; rs55688530

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

---

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: S186Y

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: S186Y; rs55688530

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1

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: BRCA1: S186Y; rs55688530

PubMed Link: 23555315

Variant Present in the following documents:

• pgen.1003419.s008.xlsx, sheet 1

View BVdb publication page

---

Analysis of BRCA1 variants in double-strand break repair by homologous recombination and single-strand annealing.

Human Mutation

Towler, William I WI; Zhang, Jie J; Ransburgh, Derek J R DJ; Toland, Amanda E AE; Ishioka, Chikashi C; Chiba, Natsuko N; Parvin, Jeffrey D JD

Publication Date: 2013-03

Variant appearance in text: BRCA1: S186Y

PubMed Link: 23161852

Variant Present in the following documents:

• Main text

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: BRCA1: Ser186Tyr

PubMed Link: 22753008

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: 557C>A; Ser186Tyr

PubMed Link: 21990134

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes.

European Journal Of Human Genetics : Ejhg

Théry, Jean Christophe JC; Krieger, Sophie S; Gaildrat, Pascaline P; Révillion, Françoise F; Buisine, Marie-Pierre MP; Killian, Audrey A; Duponchel, Christiane C; Rousselin, Antoine A; Vaur, Dominique D; Peyrat, Jean-Philippe JP; Berthet, Pascaline P; Frébourg, Thierry T; Martins, Alexandra A; Hardouin, Agnès A; Tosi, Mario M

Publication Date: 2011-10

Variant appearance in text: BRCA1: 557C>A; Ser186Tyr

PubMed Link: 21673748

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study.

European Journal Of Human Genetics : Ejhg

Caux-Moncoutier, Virginie V; Pagès-Berhouet, Sabine S; Michaux, Dorothée D; Asselain, Bernard B; Castéra, Laurent L; De Pauw, Antoine A; Buecher, Bruno B; Gauthier-Villars, Marion M; Stoppa-Lyonnet, Dominique D; Houdayer, Claude C

Publication Date: 2009-11

Variant appearance in text: BRCA1: 557C>A; Ser186Tyr

PubMed Link: 19471317

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The prevalence of BRCA1 mutations among young women with triple-negative breast cancer.

Bmc Cancer

Young, S R SR; Pilarski, Robert T RT; Donenberg, Talia T; Shapiro, Charles C; Hammond, Lyn S LS; Miller, Judith J; Brooks, Karen A KA; Cohen, Stephanie S; Tenenholz, Beverly B; Desai, Damini D; Zandvakili, Inuk I; Royer, Robert R; Li, Song S; Narod, Steven A SA

Publication Date: 2009-03-19

Variant appearance in text: BRCA1: S186Y

PubMed Link: 19298662

Variant Present in the following documents:

• Main text
• 1471-2407-9-86.pdf

View BVdb publication page

---

A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.

American Journal Of Human Genetics

Easton, Douglas F DF; Deffenbaugh, Amie M AM; Pruss, Dmitry D; Frye, Cynthia C; Wenstrup, Richard J RJ; Allen-Brady, Kristina K; Tavtigian, Sean V SV; Monteiro, Alvaro N A AN; Iversen, Edwin S ES; Couch, Fergus J FJ; Goldgar, David E DE

Publication Date: 2007-11

Variant appearance in text: BRCA1: S186Y

PubMed Link: 17924331

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: BRCA1: S186Y

PubMed Link: 16014699

Variant Present in the following documents:

• Main text

View BVdb publication page

---