Publications:

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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: 5383dup; Leu1795Profs*35

PubMed Link: 36385461

Variant Present in the following documents:

• IJC-152-1159-s006.xlsx, sheet 2
• IJC-152-1159-s002.xlsx, sheet 1

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BRCA1 and BRCA2 genes mutations among high risk breast cancer patients in Jordan.

Scientific Reports

Abu-Helalah, Munir M; Azab, Belal B; Mubaidin, Rasmi R; Ali, Dema D; Jafar, Hanan H; Alshraideh, Hussam H; Drou, Nizar N; Awidi, Abdalla A

Publication Date: 2020-10-16

Variant appearance in text: BRCA1: 5382insC

PubMed Link: 33067490

Variant Present in the following documents:

• Main text
• 41598_2020_Article_74250.pdf

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Mutation Spectrum of Cancer-Associated Genes in Patients With Early Onset of Colorectal Cancer.

Frontiers In Oncology

Zhunussova, Gulnur G; Afonin, Georgiy G; Abdikerim, Saltanat S; Jumanov, Abai A; Perfilyeva, Anastassiya A; Kaidarova, Dilyara D; Djansugurova, Leyla L

Publication Date: 2019

Variant appearance in text: BRCA1: 5382insC

PubMed Link: 31428572

Variant Present in the following documents:

• Main text
• fonc-09-00673.pdf

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Characterization of BRCA1 and BRCA2 genetic variants in a cohort of Bahraini breast cancer patients using next-generation sequencing.

Molecular Genetics & Genomic Medicine

Al Hannan, Fatima F; Keogh, Michael B MB; Taha, Safa S; Al Buainain, Latifa L

Publication Date: 2019-07

Variant appearance in text: BRCA1: 5382insC

PubMed Link: 31131559

Variant Present in the following documents:

• Main text
• MGG3-7-e00771.pdf

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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: 5383dupC

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 7

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The COSMIC Cancer Gene Census: describing genetic dysfunction across all human cancers.

Nature Reviews. Cancer

Sondka, Zbyslaw Z; Bamford, Sally S; Cole, Charlotte G CG; Ward, Sari A SA; Dunham, Ian I; Forbes, Simon A SA

Publication Date: 2018-11

Variant appearance in text: BRCA1: 5382insC

PubMed Link: 30293088

Variant Present in the following documents:

• Main text

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Hereditary cancer screening: Case reports and review of literature on ten Ashkenazi Jewish founder mutations.

Molecular Genetics & Genomic Medicine

Cox, Devin M DM; Nelson, Katherine L KL; Clytone, Meera M; Collins, Debra L DL

Publication Date: 2018-11

Variant appearance in text: BRCA1: 5382insC

PubMed Link: 30152102

Variant Present in the following documents:

• Main text
• MGG3-6-1236.pdf

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Simultaneous detection of BRCA mutations and large genomic rearrangements in germline DNA and FFPE tumor samples.

Oncotarget

Enyedi, Márton Zsolt ; Jaksa, Gábor G; Pintér, Lajos L; Sükösd, Farkas F; Gyuris, Zoltán Z; Hajdu, Adrienn A; Határvölgyi, Erika E; Priskin, Katalin K; Haracska, Lajos L

Publication Date: 2016-09-20

Variant appearance in text: BRCA1: 5382insC

PubMed Link: 27533253

Variant Present in the following documents:

• oncotarget-07-61845-s001.pdf

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Poly (ADP-Ribose) Polymerase Inhibitor Hypersensitivity in Aggressive Myeloproliferative Neoplasms.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Pratz, Keith W KW; Koh, Brian D BD; Patel, Anand G AG; Flatten, Karen S KS; Poh, Weijie W; Herman, James G JG; Dilley, Robert R; Harrell, Maria I MI; Smith, B Douglas BD; Karp, Judith E JE; Swisher, Elizabeth M EM; McDevitt, Michael A MA; Kaufmann, Scott H SH

Publication Date: 2016-08-01

Variant appearance in text: BRCA1: 5382insC

PubMed Link: 26979391

Variant Present in the following documents:

• Main text

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Development and Validation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Variants for the Clinical Laboratory.

Plos One

Strom, Charles M CM; Rivera, Steven S; Elzinga, Christopher C; Angeloni, Taraneh T; Rosenthal, Sun Hee SH; Goos-Root, Dana D; Siaw, Martin M; Platt, Jamie J; Braastadt, Cory C; Cheng, Linda L; Ross, David D; Sun, Weimin W

Publication Date: 2015

Variant appearance in text: BRCA1: 5382_5383insC

PubMed Link: 26295337

Variant Present in the following documents:

• Main text

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Detection of BRCA1 and BRCA2 germline mutations in Japanese population using next-generation sequencing.

Molecular Genetics & Genomic Medicine

Hirotsu, Yosuke Y; Nakagomi, Hiroshi H; Sakamoto, Ikuko I; Amemiya, Kenji K; Mochizuki, Hitoshi H; Omata, Masao M

Publication Date: 2015-03

Variant appearance in text: BRCA1: 5382insC

PubMed Link: 25802882

Variant Present in the following documents:

• Main text
• mgg30003-0121.pdf

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Prostate cancer screening characteristics in men with BRCA1/2 mutations attending a high-risk prevention clinic.

Canadian Urological Association Journal = Journal De L'Association Des Urologues Du Canada

Walker, Richard R; Louis, Alyssa A; Berlin, Alejandro A; Horsburgh, Sheri S; Bristow, Robert G RG; Trachtenberg, John J

Publication Date: 2014-11

Variant appearance in text: BRCA1: 5382insC

PubMed Link: 25485004

Variant Present in the following documents:

• Main text

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Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients.

Bmc Medical Genetics

Silva, Felipe C FC; Lisboa, Bianca Cg BC; Figueiredo, Marcia Cp MC; Torrezan, Giovana T GT; Santos, Erika Mm EM; Krepischi, Ana C AC; Rossi, Benedito M BM; Achatz, Maria I MI; Carraro, Dirce M DM

Publication Date: 2014-05-15

Variant appearance in text: BRCA1: 5382insC

PubMed Link: 24884479

Variant Present in the following documents:

• Main text
• 1471-2350-15-55.pdf

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A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.

Biomed Research International

Karami, Fatemeh F; Mehdipour, Parvin P

Publication Date: 2013

Variant appearance in text: BRCA1: 5382insC

PubMed Link: 24312913

Variant Present in the following documents:

• Main text
• BMRI2013-928562.pdf

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2012 William Allan Award: Adventures in cytogenetics.

American Journal Of Human Genetics

Francke, Uta U

Publication Date: 2013-03-07

Variant appearance in text: BRCA1: 5382insC

PubMed Link: 23472754

Variant Present in the following documents:

• Main text

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Comprehensive analysis of BRCA1, BRCA2 and TP53 germline mutation and tumor characterization: a portrait of early-onset breast cancer in Brazil.

Plos One

Carraro, Dirce Maria DM; Koike Folgueira, Maria Aparecida Azevedo MA; Garcia Lisboa, Bianca Cristina BC; Ribeiro Olivieri, Eloisa Helena EH; Vitorino Krepischi, Ana Cristina AC; de Carvalho, Alex Fiorini AF; de Carvalho Mota, Louise Danielle LD; Puga, Renato David RD; do Socorro Maciel, Maria M; Michelli, Rodrigo Augusto Depieri RA; de Lyra, Eduardo Carneiro EC; Grosso, Stana Helena Giorgi SH; Soares, Fernando Augusto FA; Achatz, Maria Isabel Alves de Souza Waddington MI; Brentani, Helena H; Moreira-Filho, Carlos Alberto CA; Brentani, Maria Mitzi MM

Publication Date: 2013

Variant appearance in text: BRCA1: 5382insC

PubMed Link: 23469205

Variant Present in the following documents:

• Main text
• pone.0057581.pdf

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Validation of three BRCA1/2 mutation-carrier probability models Myriad, BRCAPRO and BOADICEA in a population-based series of 183 German families.

Familial Cancer

Schneegans, S M SM; Rosenberger, A A; Engel, U U; Sander, M M; Emons, G G; Shoukier, M M

Publication Date: 2012-06

Variant appearance in text: BRCA1: 5382insC

PubMed Link: 22160602

Variant Present in the following documents:

• Main text
• 10689_2011_Article_9498.pdf

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BRCA1-mutated and basal-like breast cancers have similar aCGH profiles and a high incidence of protein truncating TP53 mutations.

Bmc Cancer

Holstege, Henne H; Horlings, Hugo M HM; Velds, Arno A; Langerød, Anita A; Børresen-Dale, Anne-Lise AL; van de Vijver, Marc J MJ; Nederlof, Petra M PM; Jonkers, Jos J

Publication Date: 2010-11-30

Variant appearance in text: BRCA1: 5382insC

PubMed Link: 21118481

Variant Present in the following documents:

• Main text
• 1471-2407-10-654.pdf

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BRCA1 mutations in women with familial or early-onset breast cancer and BRCA2 mutations in familial cancer in Estonia.

Hereditary Cancer In Clinical Practice

Tamboom, Kristiina K; Kaasik, Krista K; Aršavskaja, Jelena J; Tekkel, Mare M; Lilleorg, Aili A; Padrik, Peeter P; Metspalu, Andres A; Veidebaum, Toomas T

Publication Date: 2010-04-09

Variant appearance in text: BRCA1: 5382insC

PubMed Link: 20380699

Variant Present in the following documents:

• Main text
• 1897-4287-8-4.pdf

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