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: 5074+1G>A; rs80358053

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.

Medrxiv : The Preprint Server For Health Sciences

Walker, Logan C LC; de la Hoya, Miguel M; Wiggins, George Ar GA; Lindy, Amanda A; Vincent, Lisa M LM; Parsons, Michael M; Canson, Daffodil M DM; Bis-Brewer, Dana D; Cass, Ashley A; Tchourbanov, Alexander A; Zimmermann, Heather H; Byrne, Alicia B AB; Pesaran, Tina T; Karam, Rachid R; Harrison, Steven M SM; , ; Spurdle, Amanda B AB

Publication Date: 2023-02-26

Variant appearance in text: BRCA1: 5074+1G>A

PubMed Link: 36865205

Variant Present in the following documents:

• media-10.xlsx, sheet 1

View BVdb publication page

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: BRCA1: 5074+1G>A

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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: 5074+1G>A

PubMed Link: 36753473

Variant Present in the following documents:

• Main text
• pone.0278010.pdf
• pone.0278010.s002.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: 5074+1G>A

PubMed Link: 36385461

Variant Present in the following documents:

• Main text
• IJC-152-1159-s007.xlsx, sheet 1
• IJC-152-1159.pdf
• IJC-152-1159-s006.xlsx, sheet 2
• IJC-152-1159-s001.xlsx, sheet 2
• IJC-152-1159-s011.xlsx, sheet 1
• IJC-152-1159-s011.xlsx, sheet 3
• IJC-152-1159-s010.xlsx, sheet 6
• IJC-152-1159-s001.xlsx, sheet 3
• IJC-152-1159-s002.xlsx, sheet 1
• IJC-152-1159-s010.xlsx, sheet 1

View BVdb publication page

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Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications

Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL

Publication Date: 2022-11-07

Variant appearance in text: BRCA1: 5074+1G>A

PubMed Link: 36344544

Variant Present in the following documents:

• 41467_2022_34523_MOESM3_ESM.xlsx, sheet 3

View BVdb publication page

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Heterogeneity of germline variants in high risk breast and ovarian cancer susceptibility genes in India.

Precision Clinical Medicine

Sharma-Oates, Archana A; Shaaban, Abeer M AM; Tomlinson, Ian I; Wynne, Luke L; Cazier, Jean-Baptiste JB; Sundar, Sudha S

Publication Date: 2018-09

Variant appearance in text: BRCA1: 5074+1G>A; rs80358053

PubMed Link: 35693198

Variant Present in the following documents:

• Main text
• pby010.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: 5074+1G>A; rs80358053

PubMed Link: 35595529

Variant Present in the following documents:

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

View BVdb publication page

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BRCA1 and Breast Cancer: Molecular Mechanisms and Therapeutic Strategies.

Frontiers In Cell And Developmental Biology

Fu, Xiaoyu X; Tan, Wei W; Song, Qibin Q; Pei, Huadong H; Li, Juanjuan J

Publication Date: 2022

Variant appearance in text: BRCA1: 5074+1G>A

PubMed Link: 35300412

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 1

View BVdb publication page

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Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa.

Bmc Cancer

ElBiad, Oubaida O; Laraqui, Abdelilah A; El Boukhrissi, Fatima F; Mounjid, Chaimaa C; Lamsisi, Maryame M; Bajjou, Tahar T; Elannaz, Hicham H; Lahlou, Amine Idriss AI; Kouach, Jaouad J; Benchekroune, Khadija K; Oukabli, Mohammed M; Chahdi, Hafsa H; Ennaji, Moulay Mustapha MM; Tanz, Rachid R; Sbitti, Yassir Y; Ichou, Mohammed M; Ennibi, Khalid K; Badaoui, Bouabid B; Sekhsokh, Yassine Y

Publication Date: 2022-02-25

Variant appearance in text: BRCA1: 5074+1G>A

PubMed Link: 35216584

Variant Present in the following documents:

• Main text
• 12885_2022_Article_9181.pdf

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: 5074+1G>A

PubMed Link: 35165121

Variant Present in the following documents:

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

View BVdb publication page

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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: 5074+1G>A

PubMed Link: 35000471

Variant Present in the following documents:

• sj-pdf-2-imr-10.1177_03000605211070757.pdf
• sj-pdf-3-imr-10.1177_03000605211070757.pdf

View BVdb publication page

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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: 5074+1G>A

PubMed Link: 35000471

Variant Present in the following documents:

• sj-pdf-3-imr-10.1177_03000605211070757.pdf
• sj-pdf-2-imr-10.1177_03000605211070757.pdf

View BVdb publication page

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Genetic epidemiology of BRCA1- and BRCA2-associated cancer across Latin America.

Npj Breast Cancer

Herzog, Josef S JS; Chavarri-Guerra, Yanin Y; Castillo, Danielle D; Abugattas, Julio J; Villarreal-Garza, Cynthia C; Sand, Sharon S; Clague-Dehart, Jessica J; Alvarez-Gómez, Rosa M RM; Wegman-Ostrosky, Talia T; Mohar, Alejandro A; Mora, Pamela P; Del Toro-Valero, Azucena A; Daneri-Navarro, Adrian A; Rodriguez, Yenni Y; Cruz-Correa, Marcia M; Ashton-Prolla, Patricia P; Alemar, Bárbara B; Mejia, Rosa R; Gallardo, Lenny L; Shaw, Robin R; Yang, Kai K; Cervantes, Aleck A; Tsang, Kevin K; Nehoray, Bita B; Barrera Saldana, Hugo H; Neuhausen, Susan S; Weitzel, Jeffrey N JN

Publication Date: 2021-08-19

Variant appearance in text: rs80358053

PubMed Link: 34413315

Variant Present in the following documents:

• 41523_2021_317_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Usefulness of a novel device to divide core needle biopsy specimens in a spatially matched fashion.

Scientific Reports

Shiraishi, Takumi T; Inui, Shogo S; Inoue, Yuta Y; Saito, Yumiko Y; Taga, Hideto H; Kaneko, Masatomo M; Tsuji, Keisuke K; Ueda, Saya S; Ueda, Takashi T; Matsugasumi, Toru T; Taniguchi, Hidefumi H; Ueno, Akihisa A; Yamada, Takeshi T; Yamada, Yasuhiro Y; Iwata, Tsuyoshi T; Fujihara, Atsuko A; Hongo, Fumiya F; Ukimura, Osamu O

Publication Date: 2020-10-13

Variant appearance in text: rs80358053

PubMed Link: 33051506

Variant Present in the following documents:

• 41598_2020_74136_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Clinical outcome of breast cancer in carriers of BRCA1 and BRCA2 mutations according to molecular subtypes.

Scientific Reports

De Talhouet, Solene S; Peron, Julien J; Vuilleumier, Aurelie A; Friedlaender, Alex A; Viassolo, Valeria V; Ayme, Aurélie A; Bodmer, Alexandre A; Treilleux, Isabelle I; Lang, Noemie N; Tille, Jean- Christophe JC; Chappuis, Pierre O PO; Buisson, Adrien A; Giraud, Sophie S; Lasset, Christine C; Bonadona, Valerie V; Trédan, Olivier O; Labidi-Galy, S Intidhar SI

Publication Date: 2020-04-27

Variant appearance in text: BRCA1: 5074+1G>A

PubMed Link: 32341426

Variant Present in the following documents:

• 41598_2020_63759_MOESM1_ESM.pdf

View BVdb publication page

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Spectrum and prevalence of BRCA1/2 germline mutations in Pakistani breast cancer patients: results from a large comprehensive study.

Hereditary Cancer In Clinical Practice

Rashid, Muhammad Usman MU; Muhammad, Noor N; Naeemi, Humaira H; Khan, Faiz Ali FA; Hassan, Mariam M; Faisal, Saima S; Gull, Sidra S; Amin, Asim A; Loya, Asif A; Hamann, Ute U

Publication Date: 2019

Variant appearance in text: BRCA1: 5074+1G>A

PubMed Link: 31528241

Variant Present in the following documents:

• Main text
• 13053_2019_Article_125.pdf

View BVdb publication page

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Frequency of germline mutations in BRCA1 and BRCA2 in ovarian cancer patients and their effect on treatment outcome.

Cancer Management And Research

Ashour, Mohamed M; Ezzat Shafik, Hanan H

Publication Date: 2019

Variant appearance in text: BRCA1: 5074+1G>A

PubMed Link: 31372034

Variant Present in the following documents:

• Main text
• cmar-11-6275.pdf

View BVdb publication page

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Discoveries beyond BRCA1/2: Multigene testing in an Asian multi-ethnic cohort suspected of hereditary breast cancer syndrome in the real world.

Plos One

Ow, Samuel Guan Wei SGW; Ong, Pei Yi PY; Lee, Soo-Chin SC

Publication Date: 2019

Variant appearance in text: BRCA1: 5074+1G>A

PubMed Link: 30875412

Variant Present in the following documents:

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: 5074+1G>A

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: BRCA1: 5074+1G>A

PubMed Link: 30702160

Variant Present in the following documents:

• IJC-145-962-s007.xlsx, sheet 5
• IJC-145-962-s006.xlsx, sheet 2

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: 5074+1G>A

PubMed Link: 30209399

Variant Present in the following documents:

• NIHMS1501643-supplement-2.xlsx, sheet 1

View BVdb publication page

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BRCA locus-specific loss of heterozygosity in germline BRCA1 and BRCA2 carriers.

Nature Communications

Maxwell, Kara N KN; Wubbenhorst, Bradley B; Wenz, Brandon M BM; De Sloover, Daniel D; Pluta, John J; Emery, Lyndsey L; Barrett, Amanda A; Kraya, Adam A AA; Anastopoulos, Ioannis N IN; Yu, Shun S; Jiang, Yuchao Y; Chen, Hao H; Zhang, Nancy R NR; Hackman, Nicole N; D'Andrea, Kurt K; Daber, Robert R; Morrissette, Jennifer J D JJD; Mitra, Nandita N; Feldman, Michael M; Domchek, Susan M SM; Nathanson, Katherine L KL

Publication Date: 2017-08-22

Variant appearance in text: BRCA1: 5074+1G>A

PubMed Link: 28831036

Variant Present in the following documents:

• 41467_2017_388_MOESM1_ESM.pdf
• 41467_2017_388_MOESM2_ESM.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: 5074+1G>A

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

Plos One

LaDuca, Holly H; Farwell, Kelly D KD; Vuong, Huy H; Lu, Hsiao-Mei HM; Mu, Wenbo W; Shahmirzadi, Layla L; Tang, Sha S; Chen, Jefferey J; Bhide, Shruti S; Chao, Elizabeth C EC

Publication Date: 2017

Variant appearance in text: BRCA1: 5074+1G>A

PubMed Link: 28152038

Variant Present in the following documents:

• pone.0170843.s003.xlsx, sheet 1
• pone.0170843.s004.xlsx, sheet 1

View BVdb publication page

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A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

Human Mutation

Lindor, Noralane M NM; Guidugli, Lucia L; Wang, Xianshu X; Vallée, Maxime P MP; Monteiro, Alvaro N A AN; Tavtigian, Sean S; Goldgar, David E DE; Couch, Fergus J FJ

Publication Date: 2012-01

Variant appearance in text: BRCA1: 5074+1G>A

PubMed Link: 21990134

Variant Present in the following documents:

• Main text

View BVdb publication page

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