BRCA1 c.4883T>C ;(p.M1628T)

Variant ID: 17-41223048-A-G

NM_007294.3(BRCA1):c.4883T>C;(p.M1628T)

This variant was identified in 69 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: M1628T
PubMed Link: 36896237
Variant Present in the following documents:
  • Table1.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: rs4986854
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: 4883T>C; Met1628Thr
PubMed Link: 36385461
Variant Present in the following documents:
  • IJC-152-1159-s006.xlsx, sheet 2
  • IJC-152-1159-s009.xlsx, sheet 2
  • IJC-152-1159-s012.xlsx, sheet 1
  • IJC-152-1159-s002.xlsx, sheet 1
View BVdb publication page



Assessment of small in-frame indels and C-terminal nonsense variants of BRCA1 using a validated functional assay.

Scientific Reports
Nepomuceno, Thales C TC; Dos Santos, Ana P P APP; Fernandes, Vanessa C VC; Elias, Anna B R ABR; Gomes, Thiago T TT; Suarez-Kurtz, Guilherme G; Iversen, Edwin S ES; Couch, Fergus J FJ; Monteiro, Alvaro N A ANA; Carvalho, Marcelo A MA
Publication Date: 2022-09-28

Variant appearance in text: BRCA1: M1628T
PubMed Link: 36171434
Variant Present in the following documents:
  • Main text
  • 41598_2022_Article_20500.pdf
  • 41598_2022_20500_MOESM1_ESM.pdf
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: M1628T
PubMed Link: 36072793
Variant Present in the following documents:
  • Table_2.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: M1628T
PubMed Link: 35729312
Variant Present in the following documents:
  • 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



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: M1628T
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
View BVdb publication page



Association between germline pathogenic variants and breast cancer risk in Japanese women: The HERPACC study.

Cancer Science
Kasugai, Yumiko Y; Kohmoto, Tomohiro T; Taniyama, Yukari Y; Koyanagi, Yuriko N YN; Usui, Yoshiaki Y; Iwase, Madoka M; Oze, Isao I; Yamaguchi, Rui R; Ito, Hidemi H; Imoto, Issei I; Matsuo, Keitaro K
Publication Date: 2022-04

Variant appearance in text: BRCA1: 4883T>C; M1628T; rs4986854
PubMed Link: 35218119
Variant Present in the following documents:
  • CAS-113-1451-s002.xlsx, sheet 1
View BVdb publication page



BRCA1/BRCA2 mutation spectrum analysis in South Asia: a systematic review.

The Journal Of International Medical Research
Kharel, Sanjeev S; Shrestha, Suraj S; Yadav, Siddhartha S; Shakya, Prafulla P; Baidya, Sujita S; Hirachan, Suzita S
Publication Date: 2022-01

Variant appearance in text: BRCA1: 4883T>C
PubMed Link: 35000471
Variant Present in the following documents:
  • Main text
  • sj-pdf-3-imr-10.1177_03000605211070757.pdf
  • 10.1177_03000605211070757.pdf
View BVdb publication page



BRCA1/BRCA2 mutation spectrum analysis in South Asia: a systematic review.

The Journal Of International Medical Research
Kharel, Sanjeev S; Shrestha, Suraj S; Yadav, Siddhartha S; Shakya, Prafulla P; Baidya, Sujita S; Hirachan, Suzita S
Publication Date: 2022-01

Variant appearance in text: BRCA1: 4883T>C
PubMed Link: 35000471
Variant Present in the following documents:
  • Main text
  • sj-pdf-3-imr-10.1177_03000605211070757.pdf
  • 10.1177_03000605211070757.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: 4883T>C
PubMed Link: 34981296
Variant Present in the following documents:
  • 10689_2021_Article_286.pdf
View BVdb publication page



The value of comprehensive genomic sequencing to maximize the identification of clinically actionable alterations in advanced cancer patients: a case series.

Oncotarget
Drenner, Kevin K; Basu, Gargi D GD; Goodman, Laurie J LJ; Ozols, Audrey A AA; LoBello, Janine R JR; Royce, Thomas T; Gordon, Michael S MS; Borazanci, Erkut H EH; Steinbach, Margaux A MA; Trent, Jeffrey J; Sharma, Sunil S
Publication Date: 2021-08-31

Variant appearance in text: BRCA1: M1628T
PubMed Link: 34504655
Variant Present in the following documents:
  • oncotarget-12-1836.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: 4883T>C; Met1628Thr; rs4986854
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 3
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 6
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Analysis of BRCA1/2 variants of unknown significance in the prospective Korean Hereditary Breast Cancer study.

Scientific Reports
Kim, Joo Heung JH; Park, Sunggyun S; Park, Hyung Seok HS; Park, Ji Soo JS; Lee, Seung-Tae ST; Kim, Sung-Won SW; Lee, Jong Won JW; Lee, Min Hyuk MH; Park, Sue K SK; Noh, Woo-Chul WC; Choi, Doo Ho DH; Han, Wonshik W; Jung, Sung Hoo SH
Publication Date: 2021-04-19

Variant appearance in text: BRCA1: 4883T>C; rs4986854
PubMed Link: 33875706
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_87792.pdf
View BVdb publication page



Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology
Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y
Publication Date: 2021-04-01

Variant appearance in text: BRCA1: M1628T; rs4986854
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Identification of pathogenic variants in cancer genes using base editing screens with editing efficiency correction.

Genome Biology
Huang, Changcai C; Li, Guangyu G; Wu, Jiayu J; Liang, Junbo J; Wang, Xiaoyue X
Publication Date: 2021-03-10

Variant appearance in text: BRCA1: M1628T
PubMed Link: 33691754
Variant Present in the following documents:
  • 13059_2021_2305_MOESM7_ESM.xlsx, sheet 1
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: 4883T>C; Met1628Thr; rs4986854
PubMed Link: 33674644
Variant Present in the following documents:
  • 41598_2021_84502_MOESM2_ESM.xlsx, sheet 10
View BVdb publication page



Reclassification of BRCA1 and BRCA2 variants found in ovarian epithelial, fallopian tube, and primary peritoneal cancers.

Journal Of Gynecologic Oncology
Ha, Hyeong In HI; Ryu, Jin Sun JS; Shim, Hyoeun H; Kong, Sun Young SY; Lim, Myong Cheol MC
Publication Date: 2020-11

Variant appearance in text: BRCA1: 4883T>C; Met1628Thr
PubMed Link: 33078592
Variant Present in the following documents:
  • Main text
  • jgo-31-e83-s007.xls, sheet 1
  • jgo-31-e83.pdf
  • jgo-31-e83-s008.xls, sheet 1
  • jgo-31-e83-s009.xls, sheet 1
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: 4883T>C; Met1628Thr
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Correction: Møller, P.; et al. Causes for Frequent Pathogenic BRCA1 Variants Include Low Penetrance in Fertile Ages, Recurrent De-Novo Mutations and Genetic Drift. Cancers 2019, 11, 132.

Cancers
Møller, Pål P; Dominguez-Valentin, Mev M; Rødland, Einar Andreas EA; Hovig, Eivind E
Publication Date: 2020-02-10

Variant appearance in text: BRCA1: 4883T>C
PubMed Link: 32050665
Variant Present in the following documents:
  • cancers-12-00410.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: M1628T; rs4986854
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



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: 4883T>C; M1628T
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: M1628T
PubMed Link: 31034466
Variant Present in the following documents:
  • pcbi.1006981.s010.xlsx, sheet 1
View BVdb publication page



Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.

International Journal Of Cancer
Bhaskaran, Shanmuga Priya SP; Chandratre, Khyati K; Gupta, Hemant H; Zhang, Li L; Wang, Xiaoyu X; Cui, Jian J; Kim, Yeong C YC; Sinha, Siddharth S; Jiang, Luhan L; Lu, Boya B; Wu, Xiaobing X; Qin, Zixin Z; Huang, Teng T; Wang, San Ming SM
Publication Date: 2019-08-15

Variant appearance in text: rs4986854
PubMed Link: 30702160
Variant Present in the following documents:
  • IJC-145-962-s004.xlsx, sheet 1
View BVdb publication page



Causes for Frequent Pathogenic BRCA1 Variants Include Low Penetrance in Fertile Ages, Recurrent De-Novo Mutations and Genetic Drift.

Cancers
Møller, Pål P; Dominguez-Valentin, Mev M; Rødland, Einar Andreas EA; Hovig, Eivind E
Publication Date: 2019-01-23

Variant appearance in text: BRCA1: 4883T>C
PubMed Link: 30678073
Variant Present in the following documents:
  • Main text
  • cancers-11-00132.pdf
View BVdb publication page



Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Nature Communications
Momozawa, Yukihide Y; Iwasaki, Yusuke Y; Parsons, Michael T MT; Kamatani, Yoichiro Y; Takahashi, Atsushi A; Tamura, Chieko C; Katagiri, Toyomasa T; Yoshida, Teruhiko T; Nakamura, Seigo S; Sugano, Kokichi K; Miki, Yoshio Y; Hirata, Makoto M; Matsuda, Koichi K; Spurdle, Amanda B AB; Kubo, Michiaki M
Publication Date: 2018-10-04

Variant appearance in text: BRCA1: 4883T>C; Met1628Thr; rs4986854
PubMed Link: 30287823
Variant Present in the following documents:
  • 41467_2018_6581_MOESM5_ESM.xlsx, sheet 1
  • 41467_2018_6581_MOESM4_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: 4883T>C; M1628T
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: M1628T
PubMed Link: 29884841
Variant Present in the following documents:
  • NIHMS953431-supplement-Table_S2.xls, sheet 1
View BVdb publication page



Mutations in BRCA1, BRCA2, and PALB2, and a panel of 50 cancer-associated genes in pancreatic ductal adenocarcinoma.

Scientific Reports
Takeuchi, Shoko S; Doi, Manami M; Ikari, Naoki N; Yamamoto, Masakazu M; Furukawa, Toru T
Publication Date: 2018-05-25

Variant appearance in text: BRCA1: M1628T; rs4986854
PubMed Link: 29802286
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_26526.pdf
  • 41598_2018_26526_MOESM1_ESM.pdf
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: M1628T
PubMed Link: 29580235
Variant Present in the following documents:
  • 12920_2018_353_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Combined annotation-dependent depletion score for BRCA1/2 variants in patients with breast and/or ovarian cancer.

Cancer Science
Nakagomi, Hiroshi H; Mochizuki, Hitoshi H; Inoue, Masayuki M; Hirotsu, Yosuke Y; Amemiya, Kenji K; Sakamoto, Ikuko I; Nakagomi, Satoko S; Kubota, Takeo T; Omata, Masao M
Publication Date: 2018-02

Variant appearance in text: BRCA1: 4883T>C; Met1628Thr
PubMed Link: 29215753
Variant Present in the following documents:
  • Main text
  • CAS-109-453.pdf
View BVdb publication page



A novel molecular diagnostics platform for somatic and germline precision oncology.

Molecular Genetics & Genomic Medicine
Cabanillas, Rubén R; Diñeiro, Marta M; Castillo, David D; Pruneda, Patricia C PC; Penas, Cristina C; Cifuentes, Guadalupe A GA; de Vicente, Álvaro Á; Durán, Noelia S NS; Álvarez, Rebeca R; Ordóñez, Gonzalo R GR; Cadiñanos, Juan J
Publication Date: 2017-07

Variant appearance in text: BRCA1: 4883T>C; M1628T
PubMed Link: 28717660
Variant Present in the following documents:
  • Main text
View BVdb publication page



Findings of a 1303 Korean whole-exome sequencing study.

Experimental & Molecular Medicine
Kwak, Soo Heon SH; Chae, Jeesoo J; Choi, Seongmin S; Kim, Min Jung MJ; Choi, Murim M; Chae, Jong-Hee JH; Cho, Eun-Hae EH; Hwang, Tai Ju TJ; Jang, Se Song SS; Kim, Jong-Il JI; Park, Kyong Soo KS; Bang, Yung-Jue YJ
Publication Date: 2017-07-14

Variant appearance in text: BRCA1: M1628T; rs4986854
PubMed Link: 28706299
Variant Present in the following documents:
  • emm2017142x4.xls, 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: 4883T>C; Met1628Thr
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Next-generation sequencing of BRCA1/2 in breast cancer patients: potential effects on clinical decision-making using rapid, high-accuracy genetic results.

Annals Of Surgical Treatment And Research
Park, Hyung Seok HS; Park, Seo-Jin SJ; Kim, Jee Ye JY; Kim, Sanghwa S; Ryu, Jaegyu J; Sohn, Joohyuk J; Park, Seho S; Kim, Gun Min GM; Hwang, In Sik IS; Choi, Jong-Rak JR; Kim, Seung Il SI
Publication Date: 2017-05

Variant appearance in text: BRCA1: 4883T>C
PubMed Link: 28480178
Variant Present in the following documents:
  • Main text
  • astr-92-331.pdf
View BVdb publication page



Validation and optimization of the Ion Torrent S5 XL sequencer and Oncomine workflow for BRCA1 and BRCA2 genetic testing.

Oncotarget
Shin, Saeam S; Kim, Yoonjung Y; Chul Oh, Seoung S; Yu, Nae N; Lee, Seung-Tae ST; Rak Choi, Jong J; Lee, Kyung-A KA
Publication Date: 2017-05-23

Variant appearance in text: BRCA1: 4883T>C; Met1628Thr
PubMed Link: 28422718
Variant Present in the following documents:
  • oncotarget-08-34858-s002.xlsx, sheet 1
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: 4883T>C; M1628T
PubMed Link: 28398198
Variant Present in the following documents:
  • Main text
  • elife-21350-fig1-data1.xlsx, sheet 1
  • elife-21350-fig2-data1.xlsx, sheet 1
  • elife-21350-fig3-data1.xlsx, sheet 1
View BVdb publication page



Comparison of Ion Personal Genome Machine Platforms for the Detection of Variants in BRCA1 and BRCA2.

Cancer Research And Treatment
Hwang, Sang Mee SM; Lee, Ki Chan KC; Lee, Min Seob MS; Park, Kyoung Un KU
Publication Date: 2018-01

Variant appearance in text: BRCA1: 4883T>C; Met1628Thr; rs4986854
PubMed Link: 28392550
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of a Novel BRCA1 Pathogenic Mutation in Korean Patients Following Reclassification of BRCA1 and BRCA2 Variants According to the ACMG Standards and Guidelines Using Relevant Ethnic Controls.

Cancer Research And Treatment
Park, Ji Soo JS; Nam, Eun Ji EJ; Park, Hyung Seok HS; Han, Jung Woo JW; Lee, Jung-Yun JY; Kim, Jieun J; Kim, Tae Il TI; Lee, Seung-Tae ST
Publication Date: 2017-10

Variant appearance in text: BRCA1: M1628T
PubMed Link: 28111427
Variant Present in the following documents:
  • crt-2016-433-supple1.xlsx, sheet 1
  • crt-2016-433-supple3.xlsx, sheet 1
View BVdb publication page



Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records.

Plos One
He, Karen Y KY; Zhao, Yiqing Y; McPherson, Elizabeth W EW; Li, Quan Q; Xia, Fan F; Weng, Chunhua C; Wang, Kai K; He, Max M MM
Publication Date: 2016

Variant appearance in text: BRCA1: M1628T; rs4986854
PubMed Link: 27930734
Variant Present in the following documents:
  • pone.0167847.s002.xls, sheet 1
View BVdb publication page



Prevalence and clinical significance of BRCA1/2 germline and somatic mutations in Taiwanese patients with ovarian cancer.

Oncotarget
Chao, Angel A; Chang, Ting-Chang TC; Lapke, Nina N; Jung, Shih-Ming SM; Chi, Peter P; Chen, Chien-Hung CH; Yang, Lan-Yan LY; Lin, Cheng-Tao CT; Huang, Huei-Jean HJ; Chou, Hung-Hsueh HH; Liou, Jui-Der JD; Chen, Shu-Jen SJ; Wang, Tzu-Hao TH; Lai, Chyong-Huey CH
Publication Date: 2016-12-20

Variant appearance in text: BRCA1: M1628T
PubMed Link: 27907908
Variant Present in the following documents:
  • Main text
  • oncotarget-07-85529.pdf
View BVdb publication page



Clinically Significant Unclassified Variants in BRCA1 and BRCA2 genes among Korean Breast Cancer Patients.

Cancer Research And Treatment
Yoon, Kyong-Ah KA; Park, Boyoung B; Lee, Byung Il BI; Yang, Moon Jung MJ; Kong, Sun-Young SY; Lee, Eun Sook ES
Publication Date: 2017-07

Variant appearance in text: BRCA1: 4883T>C; Met1628Thr; rs4986854
PubMed Link: 27658390
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comparison of Clinical Outcomes of BRCA1/2 Pathologic Mutation, Variants of Unknown Significance, or Wild Type Epithelial Ovarian Cancer Patients.

Cancer Research And Treatment
Eoh, Kyung Jin KJ; Park, Hyung Seok HS; Park, Ji Soo JS; Lee, Seung-Tae ST; Han, Jeongwoo J; Lee, Jung-Yun JY; Kim, Sang Wun SW; Kim, Sunghoon S; Kim, Young Tae YT; Nam, Eun Ji EJ
Publication Date: 2017-04

Variant appearance in text: BRCA1: 4883T>C; Met1628Thr
PubMed Link: 27488874
Variant Present in the following documents:
  • Main text
  • crt-2016-135.pdf
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: 4883T>C; M1628T
PubMed Link: 27403073
Variant Present in the following documents:
  • Main text
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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: M1628T
PubMed Link: 26689913
Variant Present in the following documents:
  • ncomms10086-s22.xlsx, sheet 1
  • ncomms10086-s24.xlsx, sheet 1
  • ncomms10086-s1.pdf
  • ncomms10086.pdf
  • ncomms10086-s13.xlsx, sheet 1
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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: rs4986854
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page