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: N/A

PubMed Link: 36922933

Variant Present in the following documents:

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: 1465G>T; Glu489Ter

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: 1465G>T

PubMed Link: 36753473

Variant Present in the following documents:

• pone.0278010.s002.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: rs80357167

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: 1465G>T

PubMed Link: 36385461

Variant Present in the following documents:

• Main text
• IJC-152-1159-s002.xlsx, sheet 1
• IJC-152-1159-s010.xlsx, sheet 1
• IJC-152-1159.pdf
• IJC-152-1159-s010.xlsx, sheet 4
• IJC-152-1159-s011.xlsx, sheet 1
• IJC-152-1159-s006.xlsx, sheet 2
• IJC-152-1159-s011.xlsx, sheet 3
• IJC-152-1159-s005.xlsx, sheet 2

View BVdb publication page

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Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.

Communications Biology

Hakkaart, Christopher C; Pearson, John F JF; Marquart, Louise L; Dennis, Joe J; Wiggins, George A R GAR; Barnes, Daniel R DR; Robinson, Bridget A BA; Mace, Peter D PD; Aittomäki, Kristiina K; Andrulis, Irene L IL; Arun, Banu K BK; Azzollini, Jacopo J; Balmaña, Judith J; Barkardottir, Rosa B RB; Belhadj, Sami S; Berger, Lieke L; Blok, Marinus J MJ; Boonen, Susanne E SE; Borde, Julika J; Bradbury, Angela R AR; Brunet, Joan J; Buys, Saundra S SS; Caligo, Maria A MA; Campbell, Ian I; Chung, Wendy K WK; Claes, Kathleen B M KBM; , ; , ; Collonge-Rame, Marie-Agnès MA; Cook, Jackie J; Cosgrove, Casey C; Couch, Fergus J FJ; Daly, Mary B MB; Dandiker, Sita S; Davidson, Rosemarie R; de la Hoya, Miguel M; de Putter, Robin R; Delnatte, Capucine C; Dhawan, Mallika M; Diez, Orland O; Ding, Yuan Chun YC; Domchek, Susan M SM; Donaldson, Alan A; Eason, Jacqueline J; Easton, Douglas F DF; Ehrencrona, Hans H; Engel, Christoph C; Evans, D Gareth DG; Faust, Ulrike U; Feliubadaló, Lidia L; Fostira, Florentia F; Friedman, Eitan E; Frone, Megan M; Frost, Debra D; Garber, Judy J; Gayther, Simon A SA; Gehrig, Andrea A; Gesta, Paul P; Godwin, Andrew K AK; Goldgar, David E DE; Greene, Mark H MH; Hahnen, Eric E; Hake, Christopher R CR; Hamann, Ute U; Hansen, Thomas V O TVO; Hauke, Jan J; Hentschel, Julia J; Herold, Natalie N; Honisch, Ellen E; Hulick, Peter J PJ; Imyanitov, Evgeny N EN; , ; , ; , ; Isaacs, Claudine C; Izatt, Louise L; Izquierdo, Angel A; Jakubowska, Anna A; James, Paul A PA; Janavicius, Ramunas R; John, Esther M EM; Joseph, Vijai V; Karlan, Beth Y BY; Kemp, Zoe Z; Kirk, Judy J; Konstantopoulou, Irene I; Koudijs, Marco M; Kwong, Ava A; Laitman, Yael Y; Lalloo, Fiona F; Lasset, Christine C; Lautrup, Charlotte C; Lazaro, Conxi C; Legrand, Clémentine C; Leslie, Goska G; Lesueur, Fabienne F; Mai, Phuong L PL; Manoukian, Siranoush S; Mari, Véronique V; Martens, John W M JWM; McGuffog, Lesley L; Mebirouk, Noura N; Meindl, Alfons A; Miller, Austin A; Montagna, Marco M; Moserle, Lidia L; Mouret-Fourme, Emmanuelle E; Musgrave, Hannah H; Nambot, Sophie S; Nathanson, Katherine L KL; Neuhausen, Susan L SL; Nevanlinna, Heli H; Yie, Joanne Ngeow Yuen JNY; Nguyen-Dumont, Tu T; Nikitina-Zake, Liene L; Offit, Kenneth K; Olah, Edith E; Olopade, Olufunmilayo I OI; Osorio, Ana A; Ott, Claus-Eric CE; Park, Sue K SK; Parsons, Michael T MT; Pedersen, Inge Sokilde IS; Peixoto, Ana A; Perez-Segura, Pedro P; Peterlongo, Paolo P; Pocza, Timea T; Radice, Paolo P; Ramser, Juliane J; Rantala, Johanna J; Rodriguez, Gustavo C GC; Rønlund, Karina K; Rosenberg, Efraim H EH; Rossing, Maria M; Schmutzler, Rita K RK; Shah, Payal D PD; Sharif, Saba S; Sharma, Priyanka P; Side, Lucy E LE; Simard, Jacques J; Singer, Christian F CF; Snape, Katie K; Steinemann, Doris D; Stoppa-Lyonnet, Dominique D; Sutter, Christian C; Tan, Yen Yen YY; Teixeira, Manuel R MR; Teo, Soo Hwang SH; Thomassen, Mads M; Thull, Darcy L DL; Tischkowitz, Marc M; Toland, Amanda E AE; Trainer, Alison H AH; Tripathi, Vishakha V; Tung, Nadine N; van Engelen, Klaartje K; van Rensburg, Elizabeth J EJ; Vega, Ana A; Viel, Alessandra A; Walker, Lisa L; Weitzel, Jeffrey N JN; Wevers, Marike R MR; Chenevix-Trench, Georgia G; Spurdle, Amanda B AB; Antoniou, Antonis C AC; Walker, Logan C LC

Publication Date: 2022-10-06

Variant appearance in text: BRCA1: 1465G>T; Glu489X

PubMed Link: 36203093

Variant Present in the following documents:

• 42003_2022_3978_MOESM4_ESM.xlsx, sheet 14

View BVdb publication page

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Genomic features of Chinese small cell lung cancer.

Bmc Medical Genomics

Liu, Jun J; Zhao, Zhuxiang Z; Wei, Shuquan S; Li, Binkai B; Zhao, Ziwen Z

Publication Date: 2022-05-20

Variant appearance in text: BRCA1: Glu489Ter

PubMed Link: 35596192

Variant Present in the following documents:

• Main text
• 12920_2022_Article_1255.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: 1465G>T; Glu489Ter; rs80357167

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: 1465G>T; E489*

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: 1465G>T; Glu489Ter

PubMed Link: 35216584

Variant Present in the following documents:

• Main text
• 12885_2022_Article_9181.pdf

View BVdb publication page

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DrABC: deep learning accurately predicts germline pathogenic mutation status in breast cancer patients based on phenotype data.

Genome Medicine

Liu, Jiaqi J; Zhao, Hengqiang H; Zheng, Yu Y; Dong, Lin L; Zhao, Sen S; Huang, Yukuan Y; Huang, Shengkai S; Qian, Tianyi T; Zou, Jiali J; Liu, Shu S; Li, Jun J; Yan, Zihui Z; Li, Yalun Y; Zhang, Shuo S; Huang, Xin X; Wang, Wenyan W; Li, Yiqun Y; Wang, Jie J; Ming, Yue Y; Li, Xiaoxin X; Xing, Zeyu Z; Qin, Ling L; Zhao, Zhengye Z; Jia, Ziqi Z; Li, Jiaxin J; Liu, Gang G; Zhang, Menglu M; Feng, Kexin K; Wu, Jiang J; Zhang, Jianguo J; Yang, Yongxin Y; Wu, Zhihong Z; Liu, Zhihua Z; Ying, Jianming J; Wang, Xin X; Su, Jianzhong J; Wang, Xiang X; Wu, Nan N

Publication Date: 2022-02-25

Variant appearance in text: BRCA1: 1465G>T

PubMed Link: 35209950

Variant Present in the following documents:

• 13073_2022_1027_MOESM22_ESM.xls, sheet 1

View BVdb publication page

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High chromosome instability identified by low-pass whole-genome sequencing assay is associated with TP53 copy loss and worse prognosis in BRCA1 germline mutation breast cancer.

Breast Cancer (Tokyo, Japan)

Zhu, Liang L; Pan, Jia-Ni JN; Qian, Ziliang Z; Ye, Wei-Wu WW; Wang, Xiao-Jia XJ; Cao, Wen-Ming WM

Publication Date: 2022-01

Variant appearance in text: BRCA1: 1465G>T; Glu489Ter

PubMed Link: 34403063

Variant Present in the following documents:

• Main text
• 12282_2021_Article_1286.pdf

View BVdb publication page

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High chromosome instability identified by low-pass whole-genome sequencing assay is associated with TP53 copy loss and worse prognosis in BRCA1 germline mutation breast cancer.

Breast Cancer (Tokyo, Japan)

Zhu, Liang L; Pan, Jia-Ni JN; Qian, Ziliang Z; Ye, Wei-Wu WW; Wang, Xiao-Jia XJ; Cao, Wen-Ming WM

Publication Date: 2021-08-17

Variant appearance in text: BRCA1: 1465G>T; Glu489Ter

PubMed Link: 34403063

Variant Present in the following documents:

• Main text
• 12282_2021_Article_1286.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: BRCA1: 1465G>T; Glu489Ter; rs80357167

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

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Characteristics of BRCA1/2 pathogenic germline mutations in chinese NSCLC patients and a comparison with HBOC.

Hereditary Cancer In Clinical Practice

Xu, Zheyuan Z; Wang, Yang Y; Wang, Lan L; Cui, Fengxian F; Zhang, Libin L; Xiong, Jian J; Peng, Hao H

Publication Date: 2021-02-09

Variant appearance in text: BRCA1: E489*

PubMed Link: 33563323

Variant Present in the following documents:

• Main text
• 13053_2021_Article_174.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: 1465G>T; Glu489X

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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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: BRCA1: 1465G>T; Glu489*; rs80357167

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Prevalence of hereditary breast and ovarian cancer (HBOC) predisposition gene mutations among 882 HBOC high-risk Chinese individuals.

Cancer Science

Shao, Di D; Cheng, Shaomin S; Guo, Fengming F; Zhu, Changbin C; Yuan, Yuying Y; Hu, Kunling K; Wang, Zhe Z; Meng, Xuan X; Jin, Xin X; Xiong, Yun Y; Chai, Xianghua X; Li, Hong H; Zhang, Yu Y; Zhang, Hongyun H; Liu, Jihong J; Ye, Mingzhi M

Publication Date: 2020-02

Variant appearance in text: BRCA1: 1465G>T; Glu489*

PubMed Link: 31742824

Variant Present in the following documents:

• CAS-111-647-s001.xlsx, sheet 1

View BVdb publication page

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Prevalence and clinical significance of pathogenic germline BRCA1/2 mutations in Chinese non-small cell lung cancer patients.

Cancer Biology & Medicine

Hu, Xingsheng X; Yang, Dongyong D; Li, Yalun Y; Li, Li L; Wang, Yan Y; Chen, Peng P; Xu, Song S; Pu, Xingxiang X; Zhu, Wei W; Deng, Pengbo P; Ye, Junyi J; Zhang, Hanhan H; Lizaso, Analyn A; Liu, Hao H; Mao, Xinru X; Huang, Hai H; Chu, Qian Q; Hu, Chengping C

Publication Date: 2019-08

Variant appearance in text: BRCA1: E489*

PubMed Link: 31565484

Variant Present in the following documents:

• cbm-16-3-556.pdf

View BVdb publication page

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Comprehensive mutation detection of BRCA1/2 genes reveals large genomic rearrangements contribute to hereditary breast and ovarian cancer in Chinese women.

Bmc Cancer

Cao, Wen-Ming WM; Zheng, Ya-Bing YB; Gao, Yun Y; Ding, Xiao-Wen XW; Sun, Yan Y; Huang, Yuan Y; Lou, Cai-Jin CJ; Pan, Zhi-Wen ZW; Peng, Guang G; Wang, Xiao-Jia XJ

Publication Date: 2019-06-07

Variant appearance in text: BRCA1: 1465G>T; Glu489Ter

PubMed Link: 31174498

Variant Present in the following documents:

• Main text
• 12885_2019_Article_5765.pdf

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: rs80357167

PubMed Link: 30702160

Variant Present in the following documents:

• IJC-145-962-s007.xlsx, sheet 2
• IJC-145-962-s007.xlsx, sheet 4
• IJC-145-962-s004.xlsx, sheet 1

View BVdb publication page

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The Ethnic-Specific Spectrum of Germline Nucleotide Variants in DNA Damage Response and Repair Genes in Hereditary Breast and Ovarian Cancer Patients of Tatar Descent.

Frontiers In Oncology

Brovkina, Olga I OI; Shigapova, Leila L; Chudakova, Daria A DA; Gordiev, Marat G MG; Enikeev, Rafael F RF; Druzhkov, Maxim O MO; Khodyrev, Dmitriy S DS; Shagimardanova, Elena I EI; Nikitin, Alexey G AG; Gusev, Oleg A OA

Publication Date: 2018

Variant appearance in text: BRCA1: 1465G>T

PubMed Link: 30333958

Variant Present in the following documents:

• Main text
• fonc-08-00421.pdf

View BVdb publication page

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Mutations in context: implications of BRCA testing in diverse populations.

Familial Cancer

Felix, Gabriela E S GES; Zheng, Yonglan Y; Olopade, Olufunmilayo I OI

Publication Date: 2018-10

Variant appearance in text: BRCA1: 1465G>T

PubMed Link: 28918466

Variant Present in the following documents:

• Main text

View BVdb publication page

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Novel germline mutations and unclassified variants of BRCA1 and BRCA2 genes in Chinese women with familial breast/ovarian cancer.

Bmc Cancer

Cao, Wen-Ming WM; Gao, Yun Y; Yang, Hong-Jian HJ; Xie, Shang-Nao SN; Ding, Xiao-Wen XW; Pan, Zhi-Wen ZW; Ye, Wei-Wu WW; Wang, Xiao-Jia XJ

Publication Date: 2016-02-06

Variant appearance in text: BRCA1: E489X

PubMed Link: 26852015

Variant Present in the following documents:

• Main text
• 12885_2016_Article_2107.pdf

View BVdb publication page

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Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries.

Journal Of Medical Genetics

Kwong, Ava A; Shin, Vivian Y VY; Ho, John C W JC; Kang, Eunyoung E; Nakamura, Seigo S; Teo, Soo-Hwang SH; Lee, Ann S G AS; Sng, Jen-Hwei JH; Ginsburg, Ophira M OM; Kurian, Allison W AW; Weitzel, Jeffrey N JN; Siu, Man-Ting MT; Law, Fian B F FB; Chan, Tsun-Leung TL; Narod, Steven A SA; Ford, James M JM; Ma, Edmond S K ES; Kim, Sung-Won SW

Publication Date: 2016-01

Variant appearance in text: BRCA1: 1465G>T

PubMed Link: 26187060

Variant Present in the following documents:

• Main text

View BVdb publication page

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Hereditary breast cancer in the Han Chinese population.

Journal Of Epidemiology

Cao, Wenming W; Wang, Xiaojia X; Li, Ji-Cheng JC

Publication Date: 2013

Variant appearance in text: BRCA1: E489X

PubMed Link: 23318652

Variant Present in the following documents:

• je-23-075-s001.pdf

View BVdb publication page

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