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: 2612C>T

PubMed Link: 37048111

Variant Present in the following documents:

• cells-12-01038.pdf

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DNA Damage and Its Role in Cancer Therapeutics.

International Journal Of Molecular Sciences

Moon, Jaeyoung J; Kitty, Ichiwa I; Renata, Kusuma K; Qin, Sisi S; Zhao, Fei F; Kim, Wootae W

Publication Date: 2023-03-01

Variant appearance in text: BRCA2: 2612C>T

PubMed Link: 36902170

Variant Present in the following documents:

• ijms-24-04741.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: 2612C>T; Ser871Leu

PubMed Link: 36385461

Variant Present in the following documents:

• IJC-152-1159-s002.xlsx, sheet 2
• IJC-152-1159-s006.xlsx, sheet 3
• IJC-152-1159-s001.xlsx, sheet 1

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Screening of BRCA1/2 variants in Mauritanian breast cancer patients.

Bmc Cancer

Brahim, Selma Mohamed SM; Zein, Ekht Elbenina EE; Bonnet, Crystel C; Hamed, Cheikh Tijani CT; Salame, Malak M; Zein, Mohamed Vall MV; Khyatti, Meriem M; Tolba, Ahmedou A; Houmeida, Ahmed A

Publication Date: 2022-07-20

Variant appearance in text: BRCA2: 2612C>T

PubMed Link: 35858847

Variant Present in the following documents:

• 12885_2022_Article_9903.pdf

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Understanding and predicting the functional consequences of missense mutations in BRCA1 and BRCA2.

Scientific Reports

Aljarf, Raghad R; Shen, Mengyuan M; Pires, Douglas E V DEV; Ascher, David B DB

Publication Date: 2022-06-21

Variant appearance in text: BRCA2: S871L

PubMed Link: 35729312

Variant Present in the following documents:

• 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1

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Evaluation of a Four-Gene Panel for Hereditary Cancer Risk Assessment.

Genes

Secondino, Angela A; Starnone, Flavio F; Veneruso, Iolanda I; Di Tella, Maria Antonietta MA; Conato, Serena S; De Angelis, Carmine C; De Placido, Sabino S; D'Argenio, Valeria V

Publication Date: 2022-04-13

Variant appearance in text: BRCA2: 2612C>T

PubMed Link: 35456488

Variant Present in the following documents:

• genes-13-00682.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: 2612C>T

PubMed Link: 35251494

Variant Present in the following documents:

• Main text
• oncotarget-13-28213.pdf

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A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research

Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H

Publication Date: 2022-01

Variant appearance in text: BRCA2: S871L

PubMed Link: 34963661

Variant Present in the following documents:

• supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3

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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: BRCA2: 2612C>T; Ser871Leu

PubMed Link: 32377563

Variant Present in the following documents:

• 41523_2020_159_MOESM3_ESM.xlsx, sheet 1

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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: 2612C>T

PubMed Link: 31962039

Variant Present in the following documents:

• yujm-2019-00423.pdf

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Mutational analysis of BRCA1 and BRCA2 genes in women with familial breast cancer from different regions of Colombia.

Hereditary Cancer In Clinical Practice

Cortés, Carolina C; Rivera, Ana Lucía AL; Trochez, David D; Solarte, Melissa M; Gómez, Daniela D; Cifuentes, Laura L; Barreto, Guillermo G

Publication Date: 2019

Variant appearance in text: BRCA2: 2612C>T

PubMed Link: 31341521

Variant Present in the following documents:

• Main text
• 13053_2019_Article_120.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: 2612C>T

PubMed Link: 29929473

Variant Present in the following documents:

• 12881_2018_605_MOESM2_ESM.xlsx, sheet 1

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Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Hart, Steven N SN; Hoskin, Tanya T; Shimelis, Hermela H; Moore, Raymond M RM; Feng, Bingjian B; Thomas, Abigail A; Lindor, Noralane M NM; Polley, Eric C EC; Goldgar, David E DE; Iversen, Edwin E; Monteiro, Alvaro N A ANA; Suman, Vera J VJ; Couch, Fergus J FJ

Publication Date: 2019-01

Variant appearance in text: BRCA2: S871L

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, 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: 2612C>T

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: 2612C>T

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: 2612C>T

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: 2612C>T

PubMed Link: 28392550

Variant Present in the following documents:

• crt-2017-062-suppl1.pdf

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Improved Efficiency and Reliability of NGS Amplicon Sequencing Data Analysis for Genetic Diagnostic Procedures Using AGSA Software.

Biomed Research International

Poulet, Axel A; Privat, Maud M; Ponelle, Flora F; Viala, Sandrine S; Decousus, Stephanie S; Perin, Axel A; Lafarge, Laurence L; Ollier, Marie M; El Saghir, Nagi S NS; Uhrhammer, Nancy N; Bignon, Yves-Jean YJ; Bidet, Yannick Y

Publication Date: 2016

Variant appearance in text: BRCA2: 2612C>T

PubMed Link: 27656653

Variant Present in the following documents:

• BMRI2016-5623089.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: 2612C>T

PubMed Link: 24312913

Variant Present in the following documents:

• Main text

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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: 2612C>T

PubMed Link: 19656415

Variant Present in the following documents:

• Main text
• 1897-4287-7-13.pdf

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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: 2612C>T

PubMed Link: 18431501

Variant Present in the following documents:

• Main text

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