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: 3858_3861del; Ser1286fs

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.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: 3858_3861del

PubMed Link: 36753473

Variant Present in the following documents:

• 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: 3858_3861del; Ser1286Argfs*20

PubMed Link: 36385461

Variant Present in the following documents:

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

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: 3858_3861delTGAG

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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Germline breast cancer susceptibility genes, tumor characteristics, and survival.

Genome Medicine

Ho, Peh Joo PJ; Khng, Alexis J AJ; Loh, Hui Wen HW; Ho, Weang-Kee WK; Yip, Cheng Har CH; Mohd-Taib, Nur Aishah NA; Tan, Veronique Kiak Mien VKM; Tan, Benita Kiat-Tee BK; Tan, Su-Ming SM; Tan, Ern Yu EY; Lim, Swee Ho SH; Jamaris, Suniza S; Sim, Yirong Y; Wong, Fuh Yong FY; Ngeow, Joanne J; Lim, Elaine Hsuen EH; Tai, Mei Chee MC; Wijaya, Eldarina Azfar EA; Lee, Soo Chin SC; Chan, Ching Wan CW; Buhari, Shaik Ahmad SA; Chan, Patrick M Y PMY; Chen, Juliana J C JJC; Seah, Jaime Chin Mui JCM; Lee, Wai Peng WP; Mok, Chi Wei CW; Lim, Geok Hoon GH; Woo, Evan E; Kim, Sung-Won SW; Lee, Jong Won JW; Lee, Min Hyuk MH; Park, Sue K SK; Dunning, Alison M AM; Easton, Douglas F DF; Schmidt, Marjanka K MK; Teo, Soo-Hwang SH; Li, Jingmei J; Hartman, Mikael M

Publication Date: 2021-12-02

Variant appearance in text: BRCA1: 3858_3861del

PubMed Link: 34857041

Variant Present in the following documents:

• 13073_2021_978_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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BRCA1 and BRCA2 Variation in Taiwanese General Population and the Cancer Cohort.

Frontiers In Molecular Biosciences

Chian, Jiasheng J; Sinha, Siddharth S; Qin, Zixin Z; Wang, San Ming SM

Publication Date: 2021

Variant appearance in text: BRCA1: 3858_3861delTGAG

PubMed Link: 34235180

Variant Present in the following documents:

• Main text
• fmolb-08-685174.pdf

View BVdb publication page

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Study of the Genetic Variants in BRCA1/2 and Non-BRCA Genes in a Population-Based Cohort of 2155 Breast/Ovary Cancer Patients, Including 443 Triple-Negative Breast Cancer Patients, in Argentina.

Cancers

Solano, Angela R AR; Mele, Pablo G PG; Jalil, Fernanda S FS; Liria, Natalia C NC; Podesta, Ernesto J EJ; Gutiérrez, Leandro G LG

Publication Date: 2021-05-31

Variant appearance in text: BRCA1: 3858_3861del; Ser1286Argfs*20

PubMed Link: 34072659

Variant Present in the following documents:

• Main text
• cancers-13-02711.pdf

View BVdb publication page

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OncoOmics approaches to reveal essential genes in breast cancer: a panoramic view from pathogenesis to precision medicine.

Scientific Reports

López-Cortés, Andrés A; Paz-Y-Miño, César C; Guerrero, Santiago S; Cabrera-Andrade, Alejandro A; Barigye, Stephen J SJ; Munteanu, Cristian R CR; González-Díaz, Humberto H; Pazos, Alejandro A; Pérez-Castillo, Yunierkis Y; Tejera, Eduardo E

Publication Date: 2020-03-24

Variant appearance in text: BRCA1: S1286Rfs*20

PubMed Link: 32210335

Variant Present in the following documents:

• 41598_2020_62279_MOESM2_ESM.xlsx, sheet 33

View BVdb publication page

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Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank.

Genome Medicine

Abul-Husn, Noura S NS; Soper, Emily R ER; Odgis, Jacqueline A JA; Cullina, Sinead S; Bobo, Dean D; Moscati, Arden A; Rodriguez, Jessica E JE; , ; , ; Loos, Ruth J F RJF; Cho, Judy H JH; Belbin, Gillian M GM; Suckiel, Sabrina A SA; Kenny, Eimear E EE

Publication Date: 2019-12-31

Variant appearance in text: BRCA1: 3858_3861delTGAG; Ser1286fs

PubMed Link: 31892343

Variant Present in the following documents:

• 13073_2019_691_MOESM1_ESM.pdf

View BVdb publication page

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A Multi-Center Study of BRCA1 and BRCA2 Germline Mutations in Mexican-Mestizo Breast Cancer Families Reveals Mutations Unreported in Latin American Population.

Cancers

Millan Catalan, Oliver O; Campos-Parra, Alma D AD; Vázquez-Romo, Rafael R; Cantú de León, David D; Jacobo-Herrera, Nadia N; Morales-González, Fermín F; López-Camarillo, César C; Rodríguez-Dorantes, Mauricio M; López-Urrutia, Eduardo E; Pérez-Plasencia, Carlos C

Publication Date: 2019-08-26

Variant appearance in text: BRCA1: 3858_3861delTGAG; Ser1286fs

PubMed Link: 31454914

Variant Present in the following documents:

• Main text
• cancers-11-01246.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: BRCA1: 3858_3861delTGAG

PubMed Link: 30702160

Variant Present in the following documents:

• IJC-145-962-s007.xlsx, sheet 4
• IJC-145-962-s007.xlsx, sheet 1
• IJC-145-962-s007.xlsx, sheet 3

View BVdb publication page

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Population and breast cancer patients' analysis reveals the diversity of genomic variation of the BRCA genes in the Mexican population.

Human Genomics

Fernández-Lopez, J C JC; Romero-Córdoba, S S; Rebollar-Vega, R R; Alfaro-Ruiz, L A LA; Jiménez-Morales, S S; Beltrán-Anaya, F F; Arellano-Llamas, R R; Cedro-Tanda, A A; Rios-Romero, M M; Ramirez-Florencio, M M; Bautista-Piña, V V; Dominguez-Reyes, C C; Villegas-Carlos, F F; Tenorio-Torres, A A; Hidalgo-Miranda, A A

Publication Date: 2019-01-10

Variant appearance in text: BRCA1: 3858_3861delTGAG

PubMed Link: 30630528

Variant Present in the following documents:

• Main text
• 40246_2018_Article_188.pdf

View BVdb publication page

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Comprehensive Analysis of Germline Variants in Mexican Patients with Hereditary Breast and Ovarian Cancer Susceptibility.

Cancers

Quezada Urban, Rosalía R; Díaz Velásquez, Clara Estela CE; Gitler, Rina R; Rojo Castillo, María Patricia MP; Sirota Toporek, Max M; Figueroa Morales, Andrea A; Moreno García, Oscar O; García Esquivel, Lizbeth L; Torres Mejía, Gabriela G; Dean, Michael M; Delgado Enciso, Iván I; Ochoa Díaz López, Héctor H; Rodríguez León, Fernando F; Jan, Virginia V; Garzón Barrientos, Víctor Hugo VH; Ruiz Flores, Pablo P; Espino Silva, Perla Karina PK; Haro Santa Cruz, Jorge J; Martínez Gregorio, Héctor H; Rojas Jiménez, Ernesto Arturo EA; Romero Cruz, Luis Enrique LE; Méndez Catalá, Claudia Fabiola CF; Álvarez Gómez, Rosa María RM; Fragoso Ontiveros, Verónica V; Herrera, Luis Alonso LA; Romieu, Isabelle I; Terrazas, Luis Ignacio LI; Chirino, Yolanda Irasema YI; Frecha, Cecilia C; Oliver, Javier J; Perdomo, Sandra S; Vaca Paniagua, Felipe F

Publication Date: 2018-09-27

Variant appearance in text: BRCA1: 3858_3861delTGAG

PubMed Link: 30262796

Variant Present in the following documents:

• cancers-10-00361-s001.pdf

View BVdb publication page

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Inherited breast cancer predisposition in Asians: multigene panel testing outcomes from Singapore.

Npj Genomic Medicine

Wong, Edward S Y ESY; Shekar, Sandhya S; Met-Domestici, Marie M; Chan, Claire C; Sze, Melody M; Yap, Yoon Sim YS; Rozen, Steven G SG; Tan, Min-Han MH; Ang, Peter P; Ngeow, Joanne J; Lee, Ann S G ASG

Publication Date: 2016

Variant appearance in text: BRCA1: S1286Rfs*20

PubMed Link: 29263802

Variant Present in the following documents:

• Main text

View BVdb publication page

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BRCA1 and BRCA2 founder mutations account for 78% of germline carriers among hereditary breast cancer families in Chile.

Oncotarget

Alvarez, Carolina C; Tapia, Teresa T; Perez-Moreno, Elisa E; Gajardo-Meneses, Patricia P; Ruiz, Catalina C; Rios, Mabel M; Missarelli, Claudio C; Silva, Mariela M; Cruz, Adolfo A; Matamala, Luis L; Carvajal-Carmona, Luis L; Camus, Mauricio M; Carvallo, Pilar P

Publication Date: 2017-09-26

Variant appearance in text: BRCA1: 3858_3861delTGAG; Ser1286Argfs*20

PubMed Link: 29088781

Variant Present in the following documents:

• Main text
• oncotarget-08-74233.pdf

View BVdb publication page

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Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations.

Biological Research

Jara, Lilian L; Morales, Sebastian S; de Mayo, Tomas T; Gonzalez-Hormazabal, Patricio P; Carrasco, Valentina V; Godoy, Raul R

Publication Date: 2017-10-06

Variant appearance in text: BRCA1: 3858_3861delTGAG

PubMed Link: 28985766

Variant Present in the following documents:

• 40659_2017_139_MOESM1_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: 3858_3861delTGAG; Ser1286Argfs

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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BAMClipper: removing primers from alignments to minimize false-negative mutations in amplicon next-generation sequencing.

Scientific Reports

Au, Chun Hang CH; Ho, Dona N DN; Kwong, Ava A; Chan, Tsun Leung TL; Ma, Edmond S K ESK

Publication Date: 2017-05-08

Variant appearance in text: BRCA1: 3858_3861del

PubMed Link: 28484262

Variant Present in the following documents:

• Main text
• 41598_2017_Article_1703.pdf

View BVdb publication page

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Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines.

Hereditary Cancer In Clinical Practice

Cruz-Correa, Marcia M; Pérez-Mayoral, Julyann J; Dutil, Julie J; Echenique, Miguel M; Mosquera, Rafael R; Rivera-Román, Keila K; Umpierre, Sharee S; Rodriguez-Quilichini, Segundo S; Gonzalez-Pons, Maria M; Olivera, Myrta I MI; Pardo, Sherly S; ,

Publication Date: 2017

Variant appearance in text: BRCA1: 3858_3861delTGAG; Ser1286Argfs*20

PubMed Link: 28127413

Variant Present in the following documents:

• Main text
• 13053_2017_Article_63.pdf

View BVdb publication page

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The spectrum of BRCA1 and BRCA2 alleles in Latin America and the Caribbean: a clinical perspective.

Breast Cancer Research And Treatment

Dutil, Julie J; Golubeva, Volha A VA; Pacheco-Torres, Alba L AL; Diaz-Zabala, Hector J HJ; Matta, Jaime L JL; Monteiro, Alvaro N AN

Publication Date: 2015-12

Variant appearance in text: BRCA1: 3858_3861delTGAG

PubMed Link: 26564481

Variant Present in the following documents:

• 10549_2015_3629_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Predictive Factors for BRCA1 and BRCA2 Genetic Testing in an Asian Clinic-Based Population.

Plos One

Wong, Edward S Y ES; Shekar, Sandhya S; Chan, Claire H T CH; Hong, Lewis Z LZ; Poon, Suk-Yean SY; Silla, Toomas T; Lin, Clarabelle C; Kumar, Vikrant V; Davila, Sonia S; Voorhoeve, Mathijs M; Thike, Aye Aye AA; Ho, Gay Hui GH; Yap, Yoon Sim YS; Tan, Puay Hoon PH; Tan, Min-Han MH; Ang, Peter P; Lee, Ann S G AS

Publication Date: 2015

Variant appearance in text: BRCA1: S1286Rfs*20

PubMed Link: 26221963

Variant Present in the following documents:

• pone.0134408.s003.xlsx, sheet 1

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: 3858_3861delTGAG

PubMed Link: 26187060

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of BRCA1/2 founder mutations in Southern Chinese breast cancer patients using gene sequencing and high resolution DNA melting analysis.

Plos One

Kwong, Ava A; Ng, Enders Kai On EK; Wong, Chris Lei Po CL; Law, Fian Bic Fai FB; Au, Tommy T; Wong, Hong Nei HN; Kurian, Allison W AW; West, Dee W DW; Ford, James M JM; Ma, Edmond Siu Kwan ES

Publication Date: 2012

Variant appearance in text: BRCA1: 3858_3861delTGAG; Ser1286ArgfsX20

PubMed Link: 22970155

Variant Present in the following documents:

• Main text
• pone.0043994.pdf

View BVdb publication page

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