Publications:

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Kompetitive Allele Specific PCR Genotyping of 89 SNPs in Romanian Spotted and Romanian Brown Cattle Breeds and Their Association with Clinical Mastitis.

Animals : An Open Access Journal From Mdpi

Ilie, Daniela Elena DE; Gavojdian, Dinu D; Kusza, Szilvia S; Neamț, Radu Ionel RI; Mizeranschi, Alexandru Eugeniu AE; Mihali, Ciprian Valentin CV; Cziszter, Ludovic Toma LT

Publication Date: 2023-04-27

Variant appearance in text: BRCA1: 124A>G

PubMed Link: 37174521

Variant Present in the following documents:

• animals-13-01484.pdf

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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: 124A>G; Ile42Val; rs80357163

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

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: rs80357163

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 2

View BVdb publication page

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Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century.

Cell

Waldman, Shamam S; Backenroth, Daniel D; Harney, Éadaoin É; Flohr, Stefan S; Neff, Nadia C NC; Buckley, Gina M GM; Fridman, Hila H; Akbari, Ali A; Rohland, Nadin N; Mallick, Swapan S; Olalde, Iñigo I; Cooper, Leo L; Lomes, Ariel A; Lipson, Joshua J; Cano Nistal, Jorge J; Yu, Jin J; Barzilai, Nir N; Peter, Inga I; Atzmon, Gil G; Ostrer, Harry H; Lencz, Todd T; Maruvka, Yosef E YE; Lämmerhirt, Maike M; Beider, Alexander A; Rutgers, Leonard V LV; Renson, Virginie V; Prufer, Keith M KM; Schiffels, Stephan S; Ringbauer, Harald H; Sczech, Karin K; Carmi, Shai S; Reich, David D

Publication Date: 2022-11-22

Variant appearance in text: BRCA1: 124A>G

PubMed Link: 36455558

Variant Present in the following documents:

• NIHMS1852590-supplement-MMC2.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: I42V

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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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: 124A>G; I42V

PubMed Link: 34906453

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

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: 124A>G; Ile42Val; rs80357163

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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Dysregulation of the centrosome induced by BRCA1 deficiency contributes to tissue-specific carcinogenesis.

Cancer Science

Yoshino, Yuki Y; Fang, Zhenzhou Z; Qi, Huicheng H; Kobayashi, Akihiro A; Chiba, Natsuko N

Publication Date: 2021-05

Variant appearance in text: BRCA1: I42V

PubMed Link: 33606355

Variant Present in the following documents:

• Main text
• CAS-112-1679.pdf

View BVdb publication page

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The Function of BARD1 in Centrosome Regulation in Cooperation with BRCA1/OLA1/RACK1.

Genes

Otsuka, Kei K; Yoshino, Yuki Y; Qi, Huicheng H; Chiba, Natsuko N

Publication Date: 2020-07-24

Variant appearance in text: BRCA1: I42V

PubMed Link: 32722046

Variant Present in the following documents:

• Main text
• genes-11-00842.pdf

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: 124A>G; Ile42Val

PubMed Link: 32377563

Variant Present in the following documents:

• 41523_2020_159_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots".

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

Dines, Jennifer N JN; Shirts, Brian H BH; Slavin, Thomas P TP; Walsh, Tom T; King, Mary-Claire MC; Fowler, Douglas M DM; Pritchard, Colin C CC

Publication Date: 2020-05

Variant appearance in text: BRCA1: 124A>G; Ile42Val; rs80357163

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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Clinically relevant molecular subtypes and genomic alteration-independent differentiation in gynecologic carcinosarcoma.

Nature Communications

Gotoh, Osamu O; Sugiyama, Yuko Y; Takazawa, Yutaka Y; Kato, Kazuyoshi K; Tanaka, Norio N; Omatsu, Kohei K; Takeshima, Nobuhiro N; Nomura, Hidetaka H; Hasegawa, Kosei K; Fujiwara, Keiichi K; Taki, Mana M; Matsumura, Noriomi N; Noda, Tetsuo T; Mori, Seiichi S

Publication Date: 2019-10-31

Variant appearance in text: BRCA1: I42V

PubMed Link: 31672974

Variant Present in the following documents:

• 41467_2019_12985_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Plos Computational Biology

Brown, Anna-Leigh AL; Li, Minghui M; Goncearenco, Alexander A; Panchenko, Anna R AR

Publication Date: 2019-04

Variant appearance in text: BRCA1: I42V

PubMed Link: 31034466

Variant Present in the following documents:

• pcbi.1006981.s010.xlsx, sheet 1

View BVdb publication page

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GFP-Fragment Reassembly Screens for the Functional Characterization of Variants of Uncertain Significance in Protein Interaction Domains of the BRCA1 and BRCA2 Genes.

Cancers

Caleca, Laura L; Colombo, Mara M; van Overeem Hansen, Thomas T; Lázaro, Conxi C; Manoukian, Siranoush S; Parsons, Michael T MT; Spurdle, Amanda B AB; Radice, Paolo P

Publication Date: 2019-01-28

Variant appearance in text: BRCA1: 124A>G; Ile42Val

PubMed Link: 30696104

Variant Present in the following documents:

• Main text
• cancers-11-00151.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: 124A>G; I42V

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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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: I42V

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

View BVdb publication page

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Increased centrosome number in BRCA-related breast cancer specimens determined by immunofluorescence analysis.

Cancer Science

Watanabe, Gou G; Chiba, Natsuko N; Nomizu, Tadashi T; Furuta, Akihiko A; Sato, Kaolu K; Miyashita, Minoru M; Tada, Hiroshi H; Suzuki, Akihiko A; Ohuchi, Noriaki N; Ishida, Takanori T

Publication Date: 2018-06

Variant appearance in text: BRCA1: I42V

PubMed Link: 29601120

Variant Present in the following documents:

• CAS-109-2027-s002.xlsx, sheet 1

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: BRCA1: 124A>G; Ile42Val

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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OLA1 in centrosome biology alongside the BRCA1/BARD1 complex: looking beyond centrosomes.

Molecular Cell

Gomez, Valenti V; Hergovich, Alexander A

Publication Date: 2014-01-09

Variant appearance in text: BRCA1: I42V

PubMed Link: 24411079

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: I42V

PubMed Link: 23161852

Variant Present in the following documents:

• Main text

View BVdb publication page

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Functional differences among BRCA1 missense mutations in the control of centrosome duplication.

Oncogene

Kais, Z Z; Chiba, N N; Ishioka, C C; Parvin, J D JD

Publication Date: 2012-02-09

Variant appearance in text: BRCA1: I42V

PubMed Link: 21725363

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of breast tumor mutations in BRCA1 that abolish its function in homologous DNA recombination.

Cancer Research

Ransburgh, Derek J R DJ; Chiba, Natsuko N; Ishioka, Chikashi C; Toland, Amanda Ewart AE; Parvin, Jeffrey D JD

Publication Date: 2010-02-01

Variant appearance in text: BRCA1: I42V

PubMed Link: 20103620

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cancer-predisposing mutations within the RING domain of BRCA1: loss of ubiquitin protein ligase activity and protection from radiation hypersensitivity.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Ruffner, H H; Joazeiro, C A CA; Hemmati, D D; Hunter, T T; Verma, I M IM

Publication Date: 2001-04-24

Variant appearance in text: BRCA1: I42V

PubMed Link: 11320250

Variant Present in the following documents:

• Main text

View BVdb publication page

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