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: G1738R

PubMed Link: 36896237

Variant Present in the following documents:

• Table1.xlsx, sheet 1

View BVdb publication page

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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: 5212G>C; Gly1738Arg

PubMed Link: 36385461

Variant Present in the following documents:

• IJC-152-1159-s003.xlsx, sheet 1

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: G1738R

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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An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance.

Npj Genomic Medicine

Iversen, Edwin S ES; Lipton, Gary G; Hart, Steven N SN; Lee, Kun Y KY; Hu, Chunling C; Polley, Eric C EC; Pesaran, Tina T; Yussuf, Amal A; LaDuca, Holly H; Chao, Elizabeth E; Karam, Rachid R; Goldgar, David E DE; Couch, Fergus J FJ; Monteiro, Alvaro N A ANA

Publication Date: 2022-06-03

Variant appearance in text: BRCA1: G1738R

PubMed Link: 35665744

Variant Present in the following documents:

• 41525_2022_302_MOESM3_ESM.xlsx, sheet 1
• 41525_2022_302_MOESM3_ESM.xlsx, sheet 5
• 41525_2022_Article_302.pdf

View BVdb publication page

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PARP-1 Expression and BRCA1 Mutations in Breast Cancer Patients' CTCs.

Cancers

Sklias, Thodoris T; Vardas, Vasileios V; Pantazaka, Evangelia E; Christopoulou, Athina A; Georgoulias, Vassilis V; Kotsakis, Athanasios A; Vasilopoulos, Yiannis Y; Kallergi, Galatea G

Publication Date: 2022-03-29

Variant appearance in text: BRCA1: G1738R

PubMed Link: 35406503

Variant Present in the following documents:

• Main text
• cancers-14-01731.pdf

View BVdb publication page

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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: 5212G>C; G1738R

PubMed Link: 34906453

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

View BVdb publication page

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Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology

Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C

Publication Date: 2021

Variant appearance in text: BRCA1: G1738R

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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Comprehensive molecular profiling broadens treatment options for breast cancer patients.

Cancer Medicine

Kawaji, Hitomi H; Kubo, Makoto M; Yamashita, Nami N; Yamamoto, Hidetaka H; Kai, Masaya M; Kajihara, Atsuko A; Yamada, Mai M; Kurata, Kanako K; Kaneshiro, Kazuhisa K; Harada, Yurina Y; Hayashi, Saori S; Shimazaki, Akiko A; Mori, Hitomi H; Akiyoshi, Sayuri S; Oki, Eiji E; Oda, Yoshinao Y; Baba, Eishi E; Mori, Masaki M; Nakamura, Masafumi M

Publication Date: 2021-01

Variant appearance in text: BRCA1: G1738R

PubMed Link: 33274848

Variant Present in the following documents:

• Main text
• CAM4-10-529.pdf

View BVdb publication page

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Screening of BRCA1 variants c.190T>C, 1307delT, g.5331G>A and c.2612C>T in breast cancer patients from North India.

Genetics And Molecular Biology

Kour, Akeen A; Sambyal, Vasudha V; Guleria, Kamlesh K; Singh, Neeti Rajan NR; Uppal, Manjit Singh MS; Manjari, Mridu M; Sudan, Meena M

Publication Date: 2020

Variant appearance in text: BRCA1: G1738R

PubMed Link: 32453341

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: 5212G>C; Gly1738Arg

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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Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: BRCA1: G1738R

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

View BVdb publication page

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A salpingeal carcinoma revealed after prophylactic salpingoophorectomy in an asymptomatic BRCA1 carrier with breast malignancy.

International Journal Of Surgery Case Reports

Giannos, Aris A; Stavrou, Sofoklis S; Douskos, Athanasios A; Drakakis, Peter P; Loutradis, Dimitrios D

Publication Date: 2018

Variant appearance in text: BRCA1: G1738R

PubMed Link: 30340058

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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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: 5212G>C; G1738R

PubMed Link: 30209399

Variant Present in the following documents:

• NIHMS1501643-supplement-2.xlsx, sheet 1

View BVdb publication page

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Integrative omics analyses broaden treatment targets in human cancer.

Genome Medicine

Sengupta, Sohini S; Sun, Sam Q SQ; Huang, Kuan-Lin KL; Oh, Clara C; Bailey, Matthew H MH; Varghese, Rajees R; Wyczalkowski, Matthew A MA; Ning, Jie J; Tripathi, Piyush P; McMichael, Joshua F JF; Johnson, Kimberly J KJ; Kandoth, Cyriac C; Welch, John J; Ma, Cynthia C; Wendl, Michael C MC; Payne, Samuel H SH; Fenyö, David D; Townsend, Reid R RR; Dipersio, John F JF; Chen, Feng F; Ding, Li L

Publication Date: 2018-07-27

Variant appearance in text: BRCA1: G1738R

PubMed Link: 30053901

Variant Present in the following documents:

• 13073_2018_564_MOESM2_ESM.xlsx, sheet 3

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: G1738R

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

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: G1738R

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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Haplotype analysis of BRCA1 intragenic markers in Iranian patients with familial breast and ovarian cancer.

International Journal Of Reproductive Biomedicine

Miresmaeili, Seyed Mohsen SM; Kordi Tamandani, Dor Mohammad DM; Kalantar, Seyed Mehdi SM; Moshtaghioun, Seyed Mohammad SM

Publication Date: 2016-04

Variant appearance in text: BRCA1: G1738R

PubMed Link: 27351029

Variant Present in the following documents:

• ijrb-14-271.pdf

View BVdb publication page

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Cumulative BRCA mutation analysis in the Greek population confirms that homogenous ethnic background facilitates genetic testing.

Hereditary Cancer In Clinical Practice

Tsigginou, Alexandra A; Vlachopoulos, Fotios F; Arzimanoglou, Iordanis I; Zagouri, Flora F; Dimitrakakis, Constantine C

Publication Date: 2015

Variant appearance in text: BRCA1: G1738R

PubMed Link: 26300996

Variant Present in the following documents:

• Main text
• 13053_2015_Article_37.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: G1738R

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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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: G1738R

PubMed Link: 24312913

Variant Present in the following documents:

• BMRI2013-928562.pdf

View BVdb publication page

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Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from Greece.

Hereditary Cancer In Clinical Practice

Koumpis, Chrissovaladis C; Dimitrakakis, Constantine C; Antsaklis, Aris A; Royer, Robert R; Zhang, Shiyu S; Narod, Steven A SA; Kotsopoulos, Joanne J

Publication Date: 2011-11-15

Variant appearance in text: BRCA1: G1738R

PubMed Link: 22085629

Variant Present in the following documents:

• 1897-4287-9-10.pdf

View BVdb publication page

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BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expression.

Plos Genetics

Waddell, Nic N; Ten Haaf, Anette A; Marsh, Anna A; Johnson, Julie J; Walker, Logan C LC; , ; Gongora, Milena M; Brown, Melissa M; Grover, Piyush P; Girolami, Mark M; Grimmond, Sean S; Chenevix-Trench, Georgia G; Spurdle, Amanda B AB

Publication Date: 2008-05-23

Variant appearance in text: BRCA1: G1738R

PubMed Link: 18497862

Variant Present in the following documents:

• pgen.1000080.s002.xls, sheet 1

View BVdb publication page

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Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?

Breast Cancer Research : Bcr

Lovelock, Paul K PK; Spurdle, Amanda B AB; Mok, Myth T S MT; Farrugia, Daniel J DJ; Lakhani, Sunil R SR; Healey, Sue S; Arnold, Stephen S; Buchanan, Daniel D; , ; Couch, Fergus J FJ; Henderson, Beric R BR; Goldgar, David E DE; Tavtigian, Sean V SV; Chenevix-Trench, Georgia G; Brown, Melissa A MA

Publication Date: 2007

Variant appearance in text: BRCA1: G1738R

PubMed Link: 18036263

Variant Present in the following documents:

• bcr1826.pdf

View BVdb publication page

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Characterization of a novel large deletion and single point mutations in the BRCA1 gene in a Greek cohort of families with suspected hereditary breast cancer.

Bmc Cancer

Belogianni, Ioulia I; Apessos, Angela A; Mihalatos, Markos M; Razi, Evangelia E; Labropoulos, Stefanos S; Petounis, Andreas A; Gaki, Vasiliki V; Keramopoulos, Antonios A; Pandis, Nikos N; Kyriacou, Kyriacos K; Hadjisavvas, Andreas A; Kosmidis, Paris P; Yannoukakos, Drakoulis D; Nasioulas, Georgios G

Publication Date: 2004-09-07

Variant appearance in text: BRCA1: G1738R

PubMed Link: 15353005

Variant Present in the following documents:

• 1471-2407-4-61.pdf

View BVdb publication page

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