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: BRCA2: Arg841Trp

PubMed Link: 36385461

Variant Present in the following documents:

• IJC-152-1159-s001.xlsx, sheet 1

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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: FANCD1: R841W

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 3

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Identification of CD318, TSPAN8 and CD66c as target candidates for CAR T cell based immunotherapy of pancreatic adenocarcinoma.

Nature Communications

Schäfer, Daniel D; Tomiuk, Stefan S; Küster, Laura N LN; Rawashdeh, Wa'el Al WA; Henze, Janina J; Tischler-Höhle, German G; Agorku, David J DJ; Brauner, Janina J; Linnartz, Cathrin C; Lock, Dominik D; Kaiser, Andrew A; Herbel, Christoph C; Eckardt, Dominik D; Lamorte, Melina M; Lenhard, Dorothee D; Schüler, Julia J; Ströbel, Philipp P; Missbach-Guentner, Jeannine J; Pinkert-Leetsch, Diana D; Alves, Frauke F; Bosio, Andreas A; Hardt, Olaf O

Publication Date: 2021-03-05

Variant appearance in text: BRCA2: R841W

PubMed Link: 33674603

Variant Present in the following documents:

• 41467_2021_21774_MOESM4_ESM.xlsx, sheet 2

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Clinical characteristics of ovarian cancer classified by BRCA1, BRCA2, and RAD51C status.

Scientific Reports

Cunningham, J M JM; Cicek, M S MS; Larson, N B NB; Davila, J J; Wang, C C; Larson, M C MC; Song, H H; Dicks, E M EM; Harrington, P P; Wick, M M; Winterhoff, B J BJ; Hamidi, H H; Konecny, G E GE; Chien, J J; Bibikova, M M; Fan, J-B JB; Kalli, K R KR; Lindor, N M NM; Fridley, B L BL; Pharoah, P P D PP; Goode, E L EL

Publication Date: 2014-02-07

Variant appearance in text: BRCA2: R841W

PubMed Link: 24504028

Variant Present in the following documents:

• srep04026-s1.pdf

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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: BRCA2: R841W

PubMed Link: 23469205

Variant Present in the following documents:

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Evaluation of unclassified variants in the breast cancer susceptibility genes BRCA1 and BRCA2 using five methods: results from a population-based study of young breast cancer patients.

Breast Cancer Research : Bcr

Lee, Eunjung E; McKean-Cowdin, Roberta R; Ma, Huiyan H; Chen, Zhengjia Z; Van Den Berg, David D; Henderson, Brian E BE; Bernstein, Leslie L; Ursin, Giske G

Publication Date: 2008

Variant appearance in text: BRCA2: R841W

PubMed Link: 18284688

Variant Present in the following documents:

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Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2.

American Journal Of Human Genetics

Goldgar, David E DE; Easton, Douglas F DF; Deffenbaugh, Amie M AM; Monteiro, Alvaro N A AN; Tavtigian, Sean V SV; Couch, Fergus J FJ; ,

Publication Date: 2004-10

Variant appearance in text: BRCA2: R841W

PubMed Link: 15290653

Variant Present in the following documents:

• Main text

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Mutations of the BRCA1 and BRCA2 genes in patients with bilateral breast cancer.

British Journal Of Cancer

Steinmann, D D; Bremer, M M; Rades, D D; Skawran, B B; Siebrands, C C; Karstens, J H JH; Dörk, T T

Publication Date: 2001-09-14

Variant appearance in text: BRCA2: Arg841Trp

PubMed Link: 11556836

Variant Present in the following documents:

• 85-6692016a.pdf

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