Publications:

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Olaparib-Resistant BRCA2MUT Ovarian Cancer Cells with Restored BRCA2 Abrogate Olaparib-Induced DNA Damage and G2/M Arrest Controlled by the ATR/CHK1 Pathway for Survival.

Cells

Biegała, Łukasz Ł; Gajek, Arkadiusz A; Marczak, Agnieszka A; Rogalska, Aneta A

Publication Date: 2023-03-29

Variant appearance in text: BRCA2: 2311T>C; L771L

PubMed Link: 37048111

Variant Present in the following documents:

• cells-12-01038.pdf

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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: 2311T>C

PubMed Link: 36385461

Variant Present in the following documents:

• IJC-152-1159-s001.xlsx, sheet 1

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Identification of the most common BRCA alterations through analysis of germline mutation databases: Is droplet digital PCR an additional strategy for the assessment of such alterations in breast and ovarian cancer families?

International Journal Of Oncology

Lavoro, Alessandro A; Scalisi, Aurora A; Candido, Saverio S; Zanghì, Guido Nicola GN; Rizzo, Roberta R; Gattuso, Giuseppe G; Caruso, Giuseppe G; Libra, Massimo M; Falzone, Luca L

Publication Date: 2022-05

Variant appearance in text: BRCA2: 2311T>C; Leu771=

PubMed Link: 35383859

Variant Present in the following documents:

• ijo-60-05-05349.pdf

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Sequencing of BRCA1/2-alterations using NGS-based technology: annotation as a challenge.

Oncotarget

Ebner, Silvana S; Winkelmann, Ria R; Martin, Saskia S; Köllermann, Jens J; Wild, Peter J PJ; Demes, Melanie M

Publication Date: 2022

Variant appearance in text: BRCA2: 2311T>C

PubMed Link: 35251494

Variant Present in the following documents:

• Main text
• oncotarget-13-28213.pdf

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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: L771L

PubMed Link: 33691754

Variant Present in the following documents:

• 13059_2021_2305_MOESM7_ESM.xlsx, sheet 1

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Identification of Recurrent Variants in BRCA1 and BRCA2 across Multiple Cancers in the Chinese Population.

Biomed Research International

Jiang, Yue Y; Tian, Ting T; Yu, Chengxiao C; Zhou, Wen W; Yang, Junzhe J; Wang, Yifeng Y; Wen, Yang Y; Chen, Jiaping J; Dai, Juncheng J; Jin, Guangfu G; Ma, Hongxia H; Shen, Hongbing H; Hu, Zhibin Z

Publication Date: 2020

Variant appearance in text: BRCA2: 2311T>C

PubMed Link: 32879886

Variant Present in the following documents:

• 6739823.f1.pdf

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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: 2311T>C; Leu771=

PubMed Link: 32284662

Variant Present in the following documents:

• 1657-9534-cm-50-03-00163.pdf

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Impressive effect of cisplatin monotherapy on a patient with heavily pretreated triple-negative breast cancer with poor performance.

Yeungnam University Journal Of Medicine

Baek, Dong Won DW; Park, Ji-Young JY; Lee, Soo Jung SJ; Chae, Yee Soo YS

Publication Date: 2020-07

Variant appearance in text: BRCA2: 2311T>C; Leu771=

PubMed Link: 31962039

Variant Present in the following documents:

• yujm-2019-00423.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: BRCA2: 2311T>C

PubMed Link: 31131559

Variant Present in the following documents:

• MGG3-7-e00771.pdf

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Genetics of breast cancer in African populations: a literature review.

Global Health, Epidemiology And Genomics

Abbad, A A; Baba, H H; Dehbi, H H; Elmessaoudi-Idrissi, M M; Elyazghi, Z Z; Abidi, O O; Radouani, F F

Publication Date: 2018

Variant appearance in text: BRCA2: 2311T>C

PubMed Link: 30263132

Variant Present in the following documents:

• S2054420018000088a.pdf

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A Chinese family affected by lynch syndrome caused by MLH1 mutation.

Bmc Medical Genetics

Jia, Shuqin S; Zhang, Meng M; Sun, Yu Y; Yan, Hai H; Zhao, Fangping F; Li, Ziyu Z; Ji, Jiafu J

Publication Date: 2018-06-22

Variant appearance in text: BRCA2: 2311T>C; L771=

PubMed Link: 29929473

Variant Present in the following documents:

• 12881_2018_605_MOESM2_ESM.xlsx, sheet 1

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Mutational analysis of BRCA1 and BRCA2 genes in Peruvian families with hereditary breast and ovarian cancer.

Molecular Genetics & Genomic Medicine

Buleje, Jose J; Guevara-Fujita, Maria M; Acosta, Oscar O; Huaman, Francia D P FDP; Danos, Pierina P; Murillo, Alexis A; Pinto, Joseph A JA; Araujo, Jhajaira M JM; Aguilar, Alfredo A; Ponce, Jaime J; Vigil, Carlos C; Castaneda, Carlos C; Calderon, Gabriela G; Gomez, Henry L HL; Fujita, Ricardo R

Publication Date: 2017-09

Variant appearance in text: BRCA2: 2311T>C; L771L

PubMed Link: 28944232

Variant Present in the following documents:

• MGG3-5-481.pdf

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A comparative study of germline BRCA1 and BRCA2 mutation screening methods in use in 20 European clinical diagnostic laboratories.

British Journal Of Cancer

Ellison, Gillian G; Wallace, Andrew A; Kohlmann, Alexander A; Patton, Simon S

Publication Date: 2017-08-22

Variant appearance in text: BRCA2: 2311T>C

PubMed Link: 28751759

Variant Present in the following documents:

• Main text

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Amplification of overlapping DNA amplicons in a single-tube multiplex PCR for targeted next-generation sequencing of BRCA1 and BRCA2.

Plos One

Schenk, Desiree D; Song, Gang G; Ke, Yue Y; Wang, Zhaohui Z

Publication Date: 2017

Variant appearance in text: BRCA2: 2311T>C

PubMed Link: 28704513

Variant Present in the following documents:

• pone.0181062.pdf

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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: 2311T>C

PubMed Link: 28392550

Variant Present in the following documents:

• crt-2017-062-suppl1.pdf

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BRCA1 and BRCA2 mutations in Iranian breast cancer patients: A systematic review.

Journal Of Research In Medical Sciences : The Official Journal Of Isfahan University Of Medical Sciences

Neamatzadeh, Hossein H; Shiryazdi, Seyed Mostafa SM; Kalantar, Seyed Mahdi SM

Publication Date: 2015-03

Variant appearance in text: BRCA2: Leu771Leu

PubMed Link: 26109977

Variant Present in the following documents:

• JRMS-20-284.pdf

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Novel Germline Mutation of BRCA1 Gene in a 56-Year-Old Woman with Breast Cancer, Ovarian Cancer, and Diffuse Large B-Cell Lymphoma.

Cancer Research And Treatment

Kim, Hye Sook HS; Lee, Soon Wook SW; Choi, Yoon Ji YJ; Shin, Sang Won SW; Kim, Yeul Hong YH; Cho, Min Sun MS; Lee, Soon Nam SN; Park, Kyong Hwa KH

Publication Date: 2015-07

Variant appearance in text: BRCA2: Leu771Leu

PubMed Link: 25483746

Variant Present in the following documents:

• crt-2013-151.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: BRCA2: 2311T>C

PubMed Link: 24312913

Variant Present in the following documents:

• Main text

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Sequence Variants of BRCA1 and BRCA2 Genes in Four Iranian Families with Breast and Ovarian Cancer.

Iranian Journal Of Public Health

Keshavarzi, F F; Noughani, A Eskafi AE; Ayoubian, Mh M; Zeinali, S S

Publication Date: 2011

Variant appearance in text: N/A

PubMed Link: 23113073

Variant Present in the following documents:

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Risk of contralateral breast cancer associated with common variants in BRCA1 and BRCA2: potential modifying effect of BRCA1/BRCA2 mutation carrier status.

Breast Cancer Research And Treatment

Figueiredo, Jane C JC; Brooks, Jennifer D JD; Conti, David V DV; Poynter, Jenny N JN; Teraoka, Sharon N SN; Malone, Kathleen E KE; Bernstein, Leslie L; Lee, Won D WD; Duggan, David J DJ; Siniard, Ashley A; Concannon, Patrick P; Capanu, Marinela M; Lynch, Charles F CF; Olsen, Jørgen H JH; Haile, Robert W RW; Bernstein, Jonine L JL

Publication Date: 2011-06

Variant appearance in text: N/A

PubMed Link: 21161372

Variant Present in the following documents:

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Selected Aspects of Molecular Diagnostics of Constitutional Alterations in BRCA1 and BRCA2 Genes Associated with Increased Risk of Breast Cancer in the Polish Population.

Hereditary Cancer In Clinical Practice

Górski, Bohdan B

Publication Date: 2006-08-15

Variant appearance in text: N/A

PubMed Link: 20223018

Variant Present in the following documents:

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Molecular genetics analysis of hereditary breast and ovarian cancer patients in India.

Hereditary Cancer In Clinical Practice

Soumittra, Nagasamy N; Meenakumari, Balaiah B; Parija, Tithi T; Sridevi, Veluswami V; Nancy, Karunakaran N KN; Swaminathan, Rajaraman R; Rajalekshmy, Kamalalayam R KR; Majhi, Urmila U; Rajkumar, Thangarajan T

Publication Date: 2009-08-06

Variant appearance in text: BRCA2: 2311T>C; L771L

PubMed Link: 19656415

Variant Present in the following documents:

• Main text

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BRCA1 and BRCA2 germline mutations in Malaysian women with early-onset breast cancer without a family history.

Plos One

Toh, Gaik Theng GT; Kang, Peter P; Lee, Sharlene S W SS; Lee, Daphne Shin-Chi DS; Lee, Sheau Yee SY; Selamat, Suhaida S; Mohd Taib, Nur Aishah NA; Yoon, Sook-Yee SY; Yip, Cheng Har CH; Teo, Soo-Hwang SH

Publication Date: 2008-04-23

Variant appearance in text: BRCA2: 2311T>C; L771L

PubMed Link: 18431501

Variant Present in the following documents:

• Main text

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A novel BRCA-1 mutation in Arab kindred from east Jerusalem with breast and ovarian cancer.

Bmc Cancer

Kadouri, Luna L; Bercovich, Dani D; Elimelech, Arava A; Lerer, Israela I; Sagi, Michal M; Glusman, Gila G; Shochat, Chen C; Korem, Sigal S; Hamburger, Tamar T; Nissan, Aviram A; Abu-Halaf, Nahil N; Badrriyah, Muhmud M; Abeliovich, Dvorah D; Peretz, Tamar T

Publication Date: 2007-01-18

Variant appearance in text: N/A

PubMed Link: 17233897

Variant Present in the following documents:

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A multi-exonic BRCA1 deletion identified in multiple families through single nucleotide polymorphism haplotype pair analysis and gene amplification with widely dispersed primer sets.

The Journal Of Molecular Diagnostics : Jmd

Ward, Benjamin D BD; Hendrickson, Brant C BC; Judkins, Thaddeus T; Deffenbaugh, Amie M AM; Leclair, Benoît B; Ward, Brian E BE; Scholl, Thomas T

Publication Date: 2005-02

Variant appearance in text: N/A

PubMed Link: 15681486

Variant Present in the following documents:

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