Publications:

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Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications

White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C

Publication Date: 2022-09

Variant appearance in text: BRCA1: 5339T>C; L1780P; rs80357474

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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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: L1780P

PubMed Link: 36896237

Variant Present in the following documents:

• Table1.xlsx, sheet 1

View BVdb publication page

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Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.

Plos One

Rao, Nandana D ND; Shirts, Brian H BH

Publication Date: 2023

Variant appearance in text: BRCA1: 5339T>C

PubMed Link: 36753473

Variant Present in the following documents:

• pone.0278010.s002.xlsx, sheet 1

View BVdb publication page

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Mutations of TP53 and genes related to homologous recombination repair in breast cancer with germline BRCA1/2 mutations.

Human Genomics

Kim, Jinyong J; Jeong, Kyeonghun K; Jun, Hyeji H; Kim, Kwangsoo K; Bae, Jeong Mo JM; Song, Myung Geun MG; Yi, Hanbaek H; Park, Songyi S; Woo, Go-Un GU; Lee, Dae-Won DW; Kim, Tae-Yong TY; Lee, Kyung-Hun KH; Im, Seock-Ah SA

Publication Date: 2023-01-06

Variant appearance in text: BRCA1: Leu1780Pro

PubMed Link: 36604691

Variant Present in the following documents:

• Main text
• 40246_2022_Article_447.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: rs80357474

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 2

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: 5339T>C

PubMed Link: 36385461

Variant Present in the following documents:

• Main text
• IJC-152-1159-s011.xlsx, sheet 1
• IJC-152-1159-s011.xlsx, sheet 3
• IJC-152-1159-s006.xlsx, sheet 2
• IJC-152-1159.pdf
• IJC-152-1159-s007.xlsx, sheet 1
• IJC-152-1159-s010.xlsx, sheet 1
• IJC-152-1159-s002.xlsx, sheet 1
• IJC-152-1159-s010.xlsx, sheet 4

View BVdb publication page

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Effect of BRCA1/2 Mutational Status on Survival Outcomes According to Secondary Cytoreductive Surgery and Maintenance Therapy in Platinum-Sensitive Relapsed Ovarian Cancer: A Real-World Evidence Study.

Cancer Research And Treatment

Kim, Se Ik SI; Lim, Hyunji H; Kim, Hee Seung HS; Chung, Hyun Hoon HH; Kim, Jae-Weon JW; Park, Noh Hyun NH; Song, Yong-Sang YS; Lee, Maria M

Publication Date: 2022-07-19

Variant appearance in text: BRCA1: 5339T>C; Leu1780Pro

PubMed Link: 35879854

Variant Present in the following documents:

• crt-2022-232-S1-Table.pdf

View BVdb publication page

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Analysis of the Clinical Advancements for BRCA-Related Malignancies Highlights the Lack of Treatment Evidence for BRCA-Positive Male Breast Cancer.

Cancers

McClurg, Dylan P DP; Urquhart, Gordan G; McGoldrick, Trevor T; Chatterji, Subarnarekha S; Miedzybrodzka, Zosia Z; Speirs, Valerie V; Elsberger, Beatrix B

Publication Date: 2022-06-28

Variant appearance in text: BRCA1: L1780P

PubMed Link: 35804947

Variant Present in the following documents:

• Main text
• cancers-14-03175.pdf

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: L1780P

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: L1780P

PubMed Link: 35665744

Variant Present in the following documents:

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

View BVdb publication page

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Molecular Characterization of BRCA1 c.5339T>C Missense Mutation in DNA Damage Response of Triple-Negative Breast Cancer.

Cancers

Lee, Jeong Dong JD; Ryu, Won-Ji WJ; Han, Hyun Ju HJ; Kim, Tae Yeong TY; Kim, Min Hwan MH; Sohn, Joohyuk J

Publication Date: 2022-05-13

Variant appearance in text: BRCA1: 5339T>C; L1780P

PubMed Link: 35626017

Variant Present in the following documents:

• Main text
• cancers-14-02405.pdf

View BVdb publication page

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Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Life Science Alliance

Qin, Zixin Z; Huang, Teng T; Guo, Maoni M; Wang, San Ming SM

Publication Date: 2022-09

Variant appearance in text: BRCA1: 5339T>C; Leu1780Pro; rs80357474

PubMed Link: 35595529

Variant Present in the following documents:

• LSA-2021-01319_TableS1.xlsx, sheet 1
• LSA-2021-01319_TableS5.xlsx, sheet 1
• LSA-2021-01319_TableS3.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: L1780P

PubMed Link: 35165121

Variant Present in the following documents:

• LSA-2021-01263_TableS5.xlsx, sheet 2

View BVdb publication page

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The impact of race and ethnicity in breast cancer-disparities and implications for precision oncology.

Bmc Medicine

Hirko, Kelly A KA; Rocque, Gabrielle G; Reasor, Erica E; Taye, Ammanuel A; Daly, Alex A; Cutress, Ramsey I RI; Copson, Ellen R ER; Lee, Dae-Won DW; Lee, Kyung-Hun KH; Im, Seock-Ah SA; Park, Yeon Hee YH

Publication Date: 2022-02-11

Variant appearance in text: BRCA1: 5339T>C; L1780P

PubMed Link: 35151316

Variant Present in the following documents:

• Main text
• 12916_2022_Article_2260.pdf

View BVdb publication page

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The impact of race and ethnicity in breast cancer-disparities and implications for precision oncology.

Bmc Medicine

Hirko, Kelly A KA; Rocque, Gabrielle G; Reasor, Erica E; Taye, Ammanuel A; Daly, Alex A; Cutress, Ramsey I RI; Copson, Ellen R ER; Lee, Dae-Won DW; Lee, Kyung-Hun KH; Im, Seock-Ah SA; Park, Yeon Hee YH

Publication Date: 2022-02-11

Variant appearance in text: BRCA1: 5339T>C; L1780P

PubMed Link: 35151316

Variant Present in the following documents:

• Main text
• 12916_2022_Article_2260.pdf

View BVdb publication page

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Feasibility of targeted cascade genetic testing in the family members of BRCA1/2 gene pathogenic variant/likely pathogenic variant carriers.

Scientific Reports

Lee, Jeeyeon J; Ham, Ji Yeon JY; Park, Ho Yong HY; Jung, Jin Hyang JH; Kim, Wan Wook WW; Kang, Byeongju B; Chae, Yee Soo YS; Lee, Soo Jung SJ; Lee, In Hee IH; Lee, Nan Young NY

Publication Date: 2022-02-03

Variant appearance in text: BRCA1: 5339T>C; Leu1780Pro

PubMed Link: 35115620

Variant Present in the following documents:

• Main text
• 41598_2022_Article_5931.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: 5339T>C; L1780P

PubMed Link: 34906453

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

View BVdb publication page

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Prevalence and clinical characterization of BRCA1 and BRCA2 mutations in Korean patients with epithelial ovarian cancer.

Cancer Science

Paik, E Sun ES; Heo, Eun Jin EJ; Choi, Chel Hun CH; Kim, Jae-Hoon JH; Kim, Jae-Weon JW; Kim, Yong-Man YM; Park, Sang-Yoon SY; Lee, Jeong-Won JW; Kim, Jong-Won JW; Kim, Byoung-Gie BG

Publication Date: 2021-12

Variant appearance in text: BRCA1: 5339T>C; L1780P

PubMed Link: 34657357

Variant Present in the following documents:

• Main text
• CAS-112-5055.pdf

View BVdb publication page

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Prevalence and clinical characterization of BRCA1 and BRCA2 mutations in Korean patients with epithelial ovarian cancer.

Cancer Science

Paik, E Sun ES; Heo, Eun Jin EJ; Choi, Chel Hun CH; Kim, Jae-Hoon JH; Kim, Jae-Weon JW; Kim, Yong-Man YM; Park, Sang-Yoon SY; Lee, Jeong-Won JW; Kim, Jong-Won JW; Kim, Byoung-Gie BG

Publication Date: 2021-12

Variant appearance in text: BRCA1: 5339T>C; L1780P

PubMed Link: 34657357

Variant Present in the following documents:

• Main text
• CAS-112-5055.pdf

View BVdb publication page

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Clinicopathological Characterization of Double Heterozygosity for BRCA1 and BRCA2 Variants in Korean Breast Cancer Patients.

Cancer Research And Treatment

Bang, Yoon Ju YJ; Kwon, Won Kyung WK; Nam, Seok Jin SJ; Kim, Seok Won SW; Chae, Byung-Joo BJ; Lee, Se Kyung SK; Ryu, Jai Min JM; Kim, Jong-Won JW; Yu, Jonghan J; Lee, Jeong Eon JE

Publication Date: 2022-07

Variant appearance in text: BRCA1: 5339T>C; Leu1780Pro

PubMed Link: 34645131

Variant Present in the following documents:

• Main text
• crt-2021-791_S2_Table.pdf
• crt-2021-791.pdf

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: L1780P

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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Mutational landscape of marginal zone B-cell lymphomas of various origin: organotypic alterations and diagnostic potential for assignment of organ origin.

Virchows Archiv : An International Journal Of Pathology

Vela, Visar V; Juskevicius, Darius D; Dirnhofer, Stefan S; Menter, Thomas T; Tzankov, Alexandar A

Publication Date: 2022-02

Variant appearance in text: rs80357474

PubMed Link: 34494161

Variant Present in the following documents:

• 428_2021_3186_MOESM22_ESM.xlsx, sheet 1
• 428_2021_3186_MOESM21_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: 5339T>C; Leu1780Pro; rs80357474

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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A Population-Based Analysis of BRCA1/2 Genes and Associated Breast and Ovarian Cancer Risk in Korean Patients: A Multicenter Cohort Study.

Cancers

Park, Kyung-Sun KS; Lee, Woochang W; Seong, Moon-Woo MW; Kong, Sun-Young SY; Lee, Kyung-A KA; Ha, Jung-Sook JS; Cho, Eun-Hae EH; Han, Sung-Hee SH; Park, Inho I; Kim, Jong-Won JW

Publication Date: 2021-05-02

Variant appearance in text: BRCA1: 5339T>C; Leu1780Pro

PubMed Link: 34063308

Variant Present in the following documents:

• Main text
• cancers-13-02192.pdf

View BVdb publication page

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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: 5339T>C; Leu1780Pro; rs80357474

PubMed Link: 33875706

Variant Present in the following documents:

• Main text
• 41598_2021_Article_87792.pdf

View BVdb publication page

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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: L1780P

PubMed Link: 33691754

Variant Present in the following documents:

• 13059_2021_2305_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Local Laboratory Testing of Germline BRCA Mutations vs. Myriad: A Single-Institution Experience in Korea.

Diagnostics (Basel, Switzerland)

Hong, Joohyun J; Lee, Jiyun J; Kwon, Minsuk M; Kim, Ji-Yeon JY; Kim, Jong-Won JW; Ahn, Jin Seok JS; Im, Young-Hyuck YH; Park, Yeon Hee YH

Publication Date: 2021-02-22

Variant appearance in text: BRCA1: 5339T>C; Leu1780Pro

PubMed Link: 33671539

Variant Present in the following documents:

• diagnostics-11-00370.pdf

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: L1780P

PubMed Link: 33421217

Variant Present in the following documents:

• Main text
• CAS-112-1310.pdf

View BVdb publication page

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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: 5339T>C; Leu1780Pro

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

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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: 5339T>C; Leu1780Pro

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: L1780P

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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Clinicopathological Features of Patients with the BRCA1 c.5339T>C (p.Leu1780Pro) Variant.

Cancer Research And Treatment

Park, Hyung Seok HS; Ryu, Jai Min JM; Park, Ji Soo JS; Im, Seock-Ah SA; Jung, So-Youn SY; Kim, Eun-Kyu EK; Park, Woo-Chan WC; Min, Jun Won JW; Lee, Jeeyeon J; You, Ji Young JY; Lee, Jeong Eon JE; Kim, Sung-Won SW

Publication Date: 2020-07

Variant appearance in text: BRCA1: 5339T>C; Leu1780Pro

PubMed Link: 32019279

Variant Present in the following documents:

• Main text

View BVdb publication page

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Detection of Germline Mutations in Breast Cancer Patients with Clinical Features of Hereditary Cancer Syndrome Using a Multi-Gene Panel Test.

Cancer Research And Treatment

Shin, Hee-Chul HC; Lee, Han-Byoel HB; Yoo, Tae-Kyung TK; Lee, Eun-Shin ES; Kim, Ryong Nam RN; Park, Boyoung B; Yoon, Kyong-Ah KA; Park, Charny C; Lee, Eun Sook ES; Moon, Hyeong-Gon HG; Noh, Dong-Young DY; Kong, Sun-Young SY; Han, Wonshik W

Publication Date: 2020-07

Variant appearance in text: BRCA1: 5339T>C; Leu1780Pro

PubMed Link: 32019277

Variant Present in the following documents:

• Main text
• crt-2019-559.pdf

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: 5339T>C; Leu1780Pro; rs80357474

PubMed Link: 31911673

Variant Present in the following documents:

• 41436_2019_740_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Li, Hongyan H; LaDuca, Holly H; Pesaran, Tina T; Chao, Elizabeth C EC; Dolinsky, Jill S JS; Parsons, Michael M; Spurdle, Amanda B AB; Polley, Eric C EC; Shimelis, Hermela H; Hart, Steven N SN; Hu, Chunling C; Couch, Fergus J FJ; Goldgar, David E DE

Publication Date: 2020-04

Variant appearance in text: BRCA1: 5339T>C

PubMed Link: 31853058

Variant Present in the following documents:

• 41436_2019_729_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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Establishment of chemosensitivity tests in triple-negative and BRCA-mutated breast cancer patient-derived xenograft models.

Plos One

Park, Hyung Seok HS; Lee, Jeong Dong JD; Kim, Jee Ye JY; Park, Seho S; Kim, Joo Heung JH; Han, Hyun Ju HJ; Choi, Yeon A YA; Choi, Ae Ran AR; Sohn, Joo Hyuk JH; Kim, Seung Il SI

Publication Date: 2019

Variant appearance in text: BRCA1: 5339T>C; L1780P; rs80357474

PubMed Link: 31821346

Variant Present in the following documents:

• Main text

View BVdb publication page

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An optimized BRCA1/2 next-generation sequencing for different clinical sample types.

Journal Of Gynecologic Oncology

Kim, Yoonjung Y; Cho, Chi Heum CH; Ha, Jung Sook JS; Kim, Do Hoon DH; Kwon, Sun Young SY; Oh, Seoung Chul SC; Lee, Kyung A KA

Publication Date: 2020-01

Variant appearance in text: BRCA1: 5339T>C; Leu1780Pro

PubMed Link: 31788999

Variant Present in the following documents:

• Main text
• jgo-31-e9.pdf

View BVdb publication page

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Clinical significance of variants of unknown significances in BRCA genes.

Journal Of Gynecologic Oncology

Choi, Min Chul MC

Publication Date: 2019-07

Variant appearance in text: BRCA1: 5339T>C

PubMed Link: 31074233

Variant Present in the following documents:

• Main text
• jgo-30-e80.pdf

View BVdb publication page

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Toward automation of germline variant curation in clinical cancer genetics.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J

Publication Date: 2019-09

Variant appearance in text: BRCA1: 5339T>C; Leu1780Pro

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6

View BVdb publication page

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Clinical and Genetic Characteristics of BRCA1/2 Mutation in Korean Ovarian Cancer Patients: A Multicenter Study and Literature Review.

Cancer Research And Treatment

Kwon, Byung Su BS; Byun, Jung Mi JM; Lee, Hyun Joo HJ; Jeong, Dae Hoon DH; Lee, Tae Hwa TH; Shin, Kyung-Hwa KH; Suh, Dong Soo DS; Kim, Ki Hyung KH

Publication Date: 2019-07

Variant appearance in text: BRCA1: 5339T>C

PubMed Link: 30309222

Variant Present in the following documents:

• Main text

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: 5339T>C; Leu1780Pro

PubMed Link: 30209399

Variant Present in the following documents:

• NIHMS1501643-supplement-3.xlsx, sheet 1
• NIHMS1501643-supplement-2.xlsx, sheet 1

View BVdb publication page

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Erratum: Prevalence of germline BRCA mutations among women with carcinoma of the peritoneum or fallopian tube.

Journal Of Gynecologic Oncology

Choi, Min Chul MC; Bae, Jin Sik JS; Jung, Sang Geun SG; Park, Hyun H; Joo, Won Duk WD; Song, Seung Hun SH; Lee, Chan C; Kim, Ji Ho JH; Lee, Ki Chan KC; Lee, Sunghoon S; Lee, Je Ho JH

Publication Date: 2018-09

Variant appearance in text: BRCA1: 5339T>C; Leu1780Pro

PubMed Link: 30022640

Variant Present in the following documents:

• jgo-29-e80.pdf

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: L1780P

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

View BVdb publication page

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Prevalence of germline BRCA mutations among women with carcinoma of the peritoneum or fallopian tube.

Journal Of Gynecologic Oncology

Choi, Min Chul MC; Bae, Jin Sik JS; Jung, Sang Geun SG; Park, Hyun H; Joo, Won Duk WD; Song, Seung Hun SH; Lee, Chan C; Kim, Ji Ho JH; Lee, Ki Chan KC; Lee, Sunghoon S; Lee, Je Ho JH

Publication Date: 2018-07

Variant appearance in text: BRCA1: 5339T>C; L1780P

PubMed Link: 29770616

Variant Present in the following documents:

• Main text
• jgo-29-e43.pdf

View BVdb publication page

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Principles of Genetic Counseling in the Era of Next-Generation Sequencing.

Annals Of Laboratory Medicine

Yang, Mina M; Kim, Jong Won JW

Publication Date: 2018-07

Variant appearance in text: BRCA1: 5339T>C; L1780P

PubMed Link: 29611378

Variant Present in the following documents:

• alm-38-291.pdf

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: 5339T>C; Leu1780Pro

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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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: 5339T>C; Leu1780Pro

PubMed Link: 28422718

Variant Present in the following documents:

• oncotarget-08-34858-s002.xlsx, sheet 1

View BVdb publication page

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HRDetect is a predictor of BRCA1 and BRCA2 deficiency based on mutational signatures.

Nature Medicine

Davies, Helen H; Glodzik, Dominik D; Morganella, Sandro S; Yates, Lucy R LR; Staaf, Johan J; Zou, Xueqing X; Ramakrishna, Manasa M; Martin, Sancha S; Boyault, Sandrine S; Sieuwerts, Anieta M AM; Simpson, Peter T PT; King, Tari A TA; Raine, Keiran K; Eyfjord, Jorunn E JE; Kong, Gu G; Borg, Åke Å; Birney, Ewan E; Stunnenberg, Hendrik G HG; van de Vijver, Marc J MJ; Børresen-Dale, Anne-Lise AL; Martens, John W M JW; Span, Paul N PN; Lakhani, Sunil R SR; Vincent-Salomon, Anne A; Sotiriou, Christos C; Tutt, Andrew A; Thompson, Alastair M AM; Van Laere, Steven S; Richardson, Andrea L AL; Viari, Alain A; Campbell, Peter J PJ; Stratton, Michael R MR; Nik-Zainal, Serena S

Publication Date: 2017-04

Variant appearance in text: BRCA1: L1780P

PubMed Link: 28288110

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: Leu1780Pro; rs80357474

PubMed Link: 28111427

Variant Present in the following documents:

• Main text

View BVdb publication page

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