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: rs766173

PubMed Link: 36922933

Variant Present in the following documents:

• Main text
• crc-22-0136-s01.xlsx, sheet 1
• crc-22-0136.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: rs766173

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 3

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: BRCA2: 865A>G; Asn289Asp

PubMed Link: 36385461

Variant Present in the following documents:

• IJC-152-1159-s002.xlsx, sheet 2
• IJC-152-1159-s006.xlsx, sheet 3

View BVdb publication page

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Whole-Genome Profile of Greek Patients with Teratozοοspermia: Identification of Candidate Variants and Genes.

Genes

Kyrgiafini, Maria-Anna MA; Giannoulis, Themistoklis T; Chatziparasidou, Alexia A; Christoforidis, Nikolaos N; Mamuris, Zissis Z

Publication Date: 2022-09-08

Variant appearance in text: rs766173

PubMed Link: 36140773

Variant Present in the following documents:

• genes-13-01606.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: BRCA2: N289D

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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Rates of Variants of Uncertain Significance Among Patients With Breast Cancer Undergoing Genetic Testing: Regional Perspectives.

Frontiers In Oncology

Abdel-Razeq, Hikmat H; Tamimi, Faris F; Abujamous, Lama L; Abdel-Razeq, Rashid R; Abunasser, Mahmoud M; Edaily, Sara S; Abdulelah, Hazem H; Khashabeh, Razan Abu RA; Bater, Rayan R

Publication Date: 2022

Variant appearance in text: BRCA2: 865A>G; Asn289Asp

PubMed Link: 35402282

Variant Present in the following documents:

• Main text
• fonc-12-673094.pdf

View BVdb publication page

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The effects of genetic polymorphisms on benzene-exposed workers: A systematic review.

Health Science Reports

Ramírez-Lopera, Verónica V; Uribe-Castro, Daniel D; Bautista-Amorocho, Henry H; Silva-Sayago, Jorge Alexander JA; Mateus-Sánchez, Enrique E; Ardila-Barbosa, Wilman Yesid WY; Pérez-Cala, Tania Liseth TL

Publication Date: 2021-09

Variant appearance in text: rs766173

PubMed Link: 34295994

Variant Present in the following documents:

• Main text
• HSR2-4-e327.pdf

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: BRCA2: N289D; rs766173

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 3
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4

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: BRCA2: N289D

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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Identification of Variants (rs11571707, rs144848, and rs11571769) in the BRCA2 Gene Associated with Hereditary Breast Cancer in Indigenous Populations of the Brazilian Amazon.

Genes

Dobbin, Elizabeth Ayres Fragoso EAF; Medeiros, Jéssyca Amanda Gomes JAG; Costa, Marta Solange Camarinha Ramos MSCR; Rodrigues, Juliana Carla Gomes JCG; Guerreiro, João Farias JF; Kroll, José Eduardo JE; Souza, Sandro José de SJ; de Assumpção, Paulo Pimentel PP; Ribeiro-Dos-Santos, Ândrea Â; Santos, Sidney Emanuel Batista Dos SEBD; Burbano, Rommel Mario Rodríguez RMR; Fernandes, Marianne Rodrigues MR; Santos, Ney Pereira Carneiro Dos NPCD

Publication Date: 2021-01-22

Variant appearance in text: rs766173

PubMed Link: 33499154

Variant Present in the following documents:

• Main text
• genes-12-00142.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: BRCA2: N289D

PubMed Link: 33421217

Variant Present in the following documents:

• CAS-112-1310-s003.xlsx, sheet 1

View BVdb publication page

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Analytical performance evaluation of a commercial next generation sequencing liquid biopsy platform using plasma ctDNA, reference standards, and synthetic serial dilution samples derived from normal plasma.

Bmc Cancer

Verma, Suman S; Moore, Mathew W MW; Ringler, Rebecca R; Ghosal, Abhisek A; Horvath, Kyle K; Naef, Theodore T; Anvari, Sheri S; Cotter, Philip D PD; Gunn, Shelly S

Publication Date: 2020-10-01

Variant appearance in text: rs766173

PubMed Link: 33004033

Variant Present in the following documents:

• Main text

View BVdb publication page

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Spectrum of Germline BRCA1 and BRCA2 Variants Identified in 2351 Ovarian and Breast Cancer Patients Referring to a Reference Cancer Hospital of Rome.

Cancers

Santonocito, Concetta C; Rizza, Roberta R; Paris, Ida I; Marchis, Laura De L; Paolillo, Carmela C; Tiberi, Giordana G; Scambia, Giovanni G; Capoluongo, Ettore E

Publication Date: 2020-05-19

Variant appearance in text: BRCA2: 865A>G; Asn289Asp; rs766173

PubMed Link: 32438681

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: BRCA2: 865A>G; Asn289Asp

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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BRCA1 and BRCA2 mutations in a sample of breast and ovarian cancer families from the Colombian pacific.

Colombia Medica (Cali, Colombia)

Cifuentes-C, Laura L; Rivera-Herrera, Ana Lucia AL; Barreto, Guillermo G

Publication Date: 2019-09-30

Variant appearance in text: BRCA2: 865A>G; Asn289Asp

PubMed Link: 32284662

Variant Present in the following documents:

• Main text
• 1657-9534-cm-50-03-00163.pdf

View BVdb publication page

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Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population.

Bmc Medical Genomics

da Costa E Silva Carvalho, Simone S; Cury, Nathalia Moreno NM; Brotto, Danielle Barbosa DB; de Araujo, Luiza Ferreira LF; Rosa, Reginaldo Cruz Alves RCA; Texeira, Lorena Alves LA; Plaça, Jessica Rodrigues JR; Marques, Adriana Aparecida AA; Peronni, Kamila Chagas KC; Ruy, Patricia de Cássia PC; Molfetta, Greice Andreotti GA; Moriguti, Julio Cesar JC; Carraro, Dirce Maria DM; Palmero, Edenir Inêz EI; Ashton-Prolla, Patricia P; de Faria Ferraz, Victor Evangelista VE; Silva, Wilson Araujo WA

Publication Date: 2020-02-10

Variant appearance in text: rs766173

PubMed Link: 32039725

Variant Present in the following documents:

• Main text

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: BRCA2: 865A>G; Asn289Asp; rs766173

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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Correlation between Candidate Single Nucleotide Variants and Several Clinicopathological Risk Factors Related to Breast Cancer in Jordanian Women: A Genotype-Phenotype Study.

Journal Of Cancer

Al-Eitan, Laith N LN; Rababa'h, Doaa M DM; Alghamdi, Mansour A MA; Khasawneh, Rame H RH

Publication Date: 2019

Variant appearance in text: rs766173

PubMed Link: 31528229

Variant Present in the following documents:

• Main text
• jcav10p4647.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: BRCA2: 865A>G; Asn289Asp

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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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: BRCA2: Asn289Asp; rs766173

PubMed Link: 30702160

Variant Present in the following documents:

• IJC-145-962-s009.xlsx, sheet 2
• IJC-145-962-s005.xlsx, sheet 1

View BVdb publication page

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BRCA1/2-negative, high-risk breast cancers (BRCAX) for Asian women: genetic susceptibility loci and their potential impacts.

Scientific Reports

Lee, Joo-Yeon JY; Kim, Jisun J; Kim, Sung-Won SW; Park, Sue K SK; Ahn, Sei Hyun SH; Lee, Min Hyuk MH; Suh, Young Jin YJ; Noh, Dong-Young DY; Son, Byung Ho BH; Cho, Young Up YU; Lee, Sae Byul SB; Lee, Jong Won JW; Hopper, John L JL; Sung, Joohon J

Publication Date: 2018-10-15

Variant appearance in text: rs766173

PubMed Link: 30323354

Variant Present in the following documents:

• Main text
• 41598_2018_Article_31859.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: BRCA2: N289D

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

View BVdb publication page

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Germline mutation in the TP53 gene in uveal melanoma.

Scientific Reports

Hajkova, Nikola N; Hojny, Jan J; Nemejcova, Kristyna K; Dundr, Pavel P; Ulrych, Jan J; Jirsova, Katerina K; Glezgova, Johana J; Ticha, Ivana I

Publication Date: 2018-05-16

Variant appearance in text: rs766173

PubMed Link: 29769598

Variant Present in the following documents:

• 41598_2018_26040_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Integrated case-control and somatic-germline interaction analyses of melanoma susceptibility genes.

Biochimica Et Biophysica Acta. Molecular Basis Of Disease

Yu, Yao Y; Hu, Hao H; Chen, Jiun-Sheng JS; Hu, Fulan F; Fowler, Jerry J; Scheet, Paul P; Zhao, Hua H; Huff, Chad D CD

Publication Date: 2018-06

Variant appearance in text: rs766173

PubMed Link: 29317335

Variant Present in the following documents:

• Main text

View BVdb publication page

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Monoallelic characteristic-bearing heterozygous L1053X in BRCA2 gene among Sudanese women with breast cancer.

Bmc Medical Genetics

Elimam, Alsmawal A AA; Aabdein, Mohamed Elmogtba Mouaweia Mohamed MEMM; Eldeen, Mohamed El-Fatih Moly MEM; Altayb, Hisham N HN; Taha, Mohamed Adel MA; Nimir, Mohammed N MN; Dafaalla, Mohamed D MD; Alfaki, Musaab M MM; Abdelrahim, Mohamed A MA; Abdalla, Abdelmohaymin A AA; Mohammed, Musab I MI; Ellaithi, Mona M; Hamid, Muzamil Mahdi Abdel MMA; Hassan, Mohamed Ahmed Salih MAS

Publication Date: 2017-08-16

Variant appearance in text: BRCA2: 865A>G

PubMed Link: 28814288

Variant Present in the following documents:

• 12881_2017_Article_448.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: BRCA2: 865A>G; Asn289Asp

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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BRCA1 missense polymorphisms are associated with poor prognosis of pancreatic cancer patients in a Chinese population.

Oncotarget

Zhu, Ying Y; Zhai, Kan K; Ke, Juntao J; Li, Jiaoyuan J; Gong, Yajie Y; Yang, Yang Y; Tian, Jianbo J; Zhang, Yi Y; Zou, Danyi D; Peng, Xiating X; Gong, Jing J; Zhong, Rong R; Huang, Kun K; Chang, Jiang J; Miao, Xiaoping X

Publication Date: 2017-05-30

Variant appearance in text: rs766173

PubMed Link: 28415599

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: BRCA2: Asn289Asp; rs766173

PubMed Link: 28392550

Variant Present in the following documents:

• crt-2017-062-suppl1.pdf

View BVdb publication page

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Mutation Screening of BRCA Genes in 10 Iranian Males with Breast Cancer.

International Journal Of Molecular And Cellular Medicine

Zorrieh Zahra, Atieh A; Kadkhoda, Sepideh S; Behjati, Farkhondeh F; Aghakhani Moghaddam, Fatemeh F; Badiei, Azadeh A; Sirati, Fereidoon F; Afshin Alavi, Hossein H; Atri, Morteza M; Omranipour, Ramesh R; Keyhani, Elahe E

Publication Date: 2016

Variant appearance in text: rs766173

PubMed Link: 27478808

Variant Present in the following documents:

• Main text
• ijmcm-5-114.pdf

View BVdb publication page

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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: rs766173

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing.

Bmc Medical Genomics

Kluska, Anna A; Balabas, Aneta A; Paziewska, Agnieszka A; Kulecka, Maria M; Nowakowska, Dorota D; Mikula, Michal M; Ostrowski, Jerzy J

Publication Date: 2015-05-07

Variant appearance in text: rs766173

PubMed Link: 25948282

Variant Present in the following documents:

• 12920_2015_92_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Long-range PCR in next-generation sequencing: comparison of six enzymes and evaluation on the MiSeq sequencer.

Scientific Reports

Jia, Haiying H; Guo, Yunfei Y; Zhao, Weiwei W; Wang, Kai K

Publication Date: 2014-07-18

Variant appearance in text: rs766173

PubMed Link: 25034901

Variant Present in the following documents:

• srep05737-s1.xls, sheet 3

View BVdb publication page

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Evaluation of ultra-deep targeted sequencing for personalized breast cancer care.

Breast Cancer Research : Bcr

Harismendy, Olivier O; Schwab, Richard B RB; Alakus, Hakan H; Yost, Shawn E SE; Matsui, Hiroko H; Hasteh, Farnaz F; Wallace, Anne M AM; Park, Hannah L HL; Madlensky, Lisa L; Parker, Barbara B; Carpenter, Philip M PM; Jepsen, Kristen K; Anton-Culver, Hoda H; Frazer, Kelly A KA

Publication Date: 2013-12-10

Variant appearance in text: rs766173

PubMed Link: 24326041

Variant Present in the following documents:

• bcr3584-S1.pdf

View BVdb publication page

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Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.

Peerj

O'Rawe, Jason A JA; Fang, Han H; Rynearson, Shawn S; Robison, Reid R; Kiruluta, Edward S ES; Higgins, Gerald G; Eilbeck, Karen K; Reese, Martin G MG; Lyon, Gholson J GJ

Publication Date: 2013

Variant appearance in text: N/A

PubMed Link: 24109560

Variant Present in the following documents:

View BVdb publication page

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Polymorphisms in DNA repair pathway genes, body mass index, and risk of non-Hodgkin lymphoma.

American Journal Of Hematology

Chen, Yingtai Y; Zheng, Tongzhang T; Lan, Qing Q; Kim, Christopher C; Qin, Qin Q; Foss, Francine F; Chen, Xuezhong X; Holford, Theodore T; Leaderer, Brian B; Boyle, Peter P; Wang, Chengfeng C; Dai, Min M; Liu, Zhenjiang Z; Ma, Shuangge S; Chanock, Stephen J SJ; Rothman, Nathaniel N; Zhang, Yawei Y

Publication Date: 2013-07

Variant appearance in text: rs766173

PubMed Link: 23619945

Variant Present in the following documents:

• Main text

View BVdb publication page

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Occupational solvent exposure, genetic variation of DNA repair genes, and the risk of non-Hodgkin's lymphoma.

European Journal Of Cancer Prevention : The Official Journal Of The European Cancer Prevention Organisation (Ecp)

Jiao, Jie J; Zheng, Tongzhang T; Lan, Qing Q; Chen, Yingtai Y; Deng, Qian Q; Bi, Xiaofeng X; Kim, Christopher C; Holford, Theodore T; Leaderer, Brian B; Boyle, Peter P; Ba, Yue Y; Xia, Zhaolin Z; Chanock, Stephen J SJ; Rothman, Nathaniel N; Zhang, Yawei Y

Publication Date: 2012-11

Variant appearance in text: rs766173

PubMed Link: 22430443

Variant Present in the following documents:

• Main text

View BVdb publication page

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