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: 2722G>T

PubMed Link: 36385461

Variant Present in the following documents:

• IJC-152-1159-s005.xlsx, sheet 3
• IJC-152-1159-s005.xlsx, sheet 2
• IJC-152-1159-s001.xlsx, sheet 1

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Heritability of Low ER Staining/HER2-Breast Tumors: Are We Missing an Opportunity for Germline Testing?

Genes

Lovejoy, Leann A LA; Turner, Clesson E CE; Wells, Justin M JM; Shriver, Craig D CD; Ellsworth, Rachel E RE

Publication Date: 2020-12-08

Variant appearance in text: BRCA2: Glu908Ter

PubMed Link: 33302456

Variant Present in the following documents:

• genes-11-01469.pdf

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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: 2722G>T; Glu908X

PubMed Link: 32377563

Variant Present in the following documents:

• 41523_2020_159_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Modeling biological and genetic diversity in upper tract urothelial carcinoma with patient derived xenografts.

Nature Communications

Kim, Kwanghee K; Hu, Wenhuo W; Audenet, François F; Almassi, Nima N; Hanrahan, Aphrothiti J AJ; Murray, Katie K; Bagrodia, Aditya A; Wong, Nathan N; Clinton, Timothy N TN; Dason, Shawn S; Mohan, Vishnu V; Jebiwott, Sylvia S; Nagar, Karan K; Gao, Jianjiong J; Penson, Alex A; Hughes, Chris C; Gordon, Benjamin B; Chen, Ziyu Z; Dong, Yiyu Y; Watson, Philip A PA; Alvim, Ricardo R; Elzein, Arijh A; Gao, Sizhi P SP; Cocco, Emiliano E; Santin, Alessandro D AD; Ostrovnaya, Irina I; Hsieh, James J JJ; Sagi, Irit I; Pietzak, Eugene J EJ; Hakimi, A Ari AA; Rosenberg, Jonathan E JE; Iyer, Gopa G; Vargas, Herbert A HA; Scaltriti, Maurizio M; Al-Ahmadie, Hikmat H; Solit, David B DB; Coleman, Jonathan A JA

Publication Date: 2020-04-24

Variant appearance in text: BRCA2: 2722G>T; E908*

PubMed Link: 32332851

Variant Present in the following documents:

• 41467_2020_15885_MOESM3_ESM.xlsx, sheet 3

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Universal Tumor DNA BRCA1/2 Testing of Ovarian Cancer: Prescreening PARPi Treatment and Genetic Predisposition.

Journal Of The National Cancer Institute

Vos, Janet R JR; Fakkert, Ingrid E IE; de Hullu, Joanne A JA; van Altena, Anne M AM; Sie, Aisha S AS; Ouchene, Hicham H; Willems, Riki W RW; Nagtegaal, Iris D ID; Jongmans, Marjolijn C J MCJ; Mensenkamp, Arjen R AR; Woldringh, Gwendolyn H GH; Bulten, Johan J; Leter, Edward M EM; Kets, C Marleen CM; Simons, Michiel M; Ligtenberg, Marjolijn J L MJL; Hoogerbrugge, Nicoline N; ,

Publication Date: 2020-02-01

Variant appearance in text: BRCA2: 2722G>T; Glu908*

PubMed Link: 31076742

Variant Present in the following documents:

• djz080.pdf

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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: BRCA2: 2722G>T

PubMed Link: 30702160

Variant Present in the following documents:

• IJC-145-962-s007.xlsx, sheet 5

View BVdb publication page

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The germline mutational landscape of BRCA1 and BRCA2 in Brazil.

Scientific Reports

Palmero, Edenir Inêz EI; Carraro, Dirce Maria DM; Alemar, Barbara B; Moreira, Miguel Angelo Martins MAM; Ribeiro-Dos-Santos, Ândrea Â; Abe-Sandes, Kiyoko K; Galvão, Henrique Campos Reis HCR; Reis, Rui Manuel RM; de Pádua Souza, Cristiano C; Campacci, Natalia N; Achatz, Maria Isabel MI; Brianese, Rafael Canfield RC; da Cruz Formiga, Maria Nirvana MN; Makdissi, Fabiana Baroni FB; Vargas, Fernando Regla FR; Evangelista Dos Santos, Anna Cláudia AC; Seuanez, Hector N HN; Lobo de Souza, Kelly Rose KR; Netto, Cristina B O CBO; Santos-Silva, Patrícia P; da Silva, Gustavo Stumpf GS; Burbano, Rommel M R RMR; Santos, Sidney S; Assumpção, Paulo Pimentel PP; Bernardes, Izabel Maria Monteiro IMM; Machado-Lopes, Taisa Manuela Bonfim TMB; Bomfim, Thais Ferreira TF; Toralles, Maria Betânia Pereira MBP; Nascimento, Ivana I; Garicochea, Bernardo B; Simon, Sergio D SD; Noronha, Simone S; de Lima, Fernanda Teresa FT; Chami, Anisse Marques AM; Bittar, Camila Matzenbacher CM; Bines, Jose J; Artigalas, Osvaldo O; Esteves-Diz, Maria Del Pilar MDP; Lajus, Tirzah Braz Petta TBP; Gifoni, Ana Carolina Leite Vieira Costa ACLVC; Guindalini, Rodrigo S C RSC; Cintra, Terezinha Sarquis TS; Schwartz, Ida V D IVD; Bernardi, Pricila P; Miguel, Diego D; Nogueira, Sonia Tereza Dos Santos STDS; Herzog, Josef J; Weitzel, Jeffrey N JN; Ashton-Prolla, Patricia P

Publication Date: 2018-06-15

Variant appearance in text: BRCA2: 2722G>T

PubMed Link: 29907814

Variant Present in the following documents:

• 41598_2018_Article_27315.pdf

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Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan.

Journal Of Human Genetics

Arai, Masami M; Yokoyama, Shiro S; Watanabe, Chie C; Yoshida, Reiko R; Kita, Mizuho M; Okawa, Megumi M; Sakurai, Akihiro A; Sekine, Masayuki M; Yotsumoto, Junko J; Nomura, Hiroyuki H; Akama, Yoshinori Y; Inuzuka, Mayuko M; Nomizu, Tadashi T; Enomoto, Takayuki T; Nakamura, Seigo S

Publication Date: 2018-04

Variant appearance in text: BRCA2: 2722G>T; Glu908Ter

PubMed Link: 29176636

Variant Present in the following documents:

• 10038_2017_Article_355.pdf

View BVdb publication page

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Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan.

Journal Of Human Genetics

Arai, Masami M; Yokoyama, Shiro S; Watanabe, Chie C; Yoshida, Reiko R; Kita, Mizuho M; Okawa, Megumi M; Sakurai, Akihiro A; Sekine, Masayuki M; Yotsumoto, Junko J; Nomura, Hiroyuki H; Akama, Yoshinori Y; Inuzuka, Mayuko M; Nomizu, Tadashi T; Enomoto, Takayuki T; Nakamura, Seigo S

Publication Date: 2018-04

Variant appearance in text: BRCA2: 2722G>T; Glu908Ter

PubMed Link: 29176636

Variant Present in the following documents:

• 10038_2017_Article_355.pdf

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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: BRCA2: 2722G>T

PubMed Link: 28985766

Variant Present in the following documents:

• 40659_2017_139_MOESM1_ESM.xlsx, sheet 1

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Novel BRCA1 and BRCA2 Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas.

Human Mutation

Weren, Robbert D A RD; Mensenkamp, Arjen R AR; Simons, Michiel M; Eijkelenboom, Astrid A; Sie, Aisha S AS; Ouchene, Hicham H; van Asseldonk, Monique M; Gomez-Garcia, Encarna B EB; Blok, Marinus J MJ; de Hullu, Joanne A JA; Nelen, Marcel R MR; Hoischen, Alexander A; Bulten, Johan J; Tops, Bastiaan B J BB; Hoogerbrugge, Nicoline N; Ligtenberg, Marjolijn J L MJ

Publication Date: 2017-02

Variant appearance in text: BRCA2: 2722G>T

PubMed Link: 27767231

Variant Present in the following documents:

• HUMU-38-226.pdf

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Predictive factors for BRCA1/BRCA2 mutations in women with ductal carcinoma in situ.

Cancer

Bayraktar, Soley S; Elsayegh, Nisreen N; Gutierrez Barrera, Angelica M AM; Lin, Heather H; Kuerer, Henry H; Tasbas, Tunc T; Muse, Kimberly I KI; Ready, Kaylene K; Litton, Jennifer J; Meric-Bernstam, Funda F; Hortobagyi, Gabriel N GN; Albarracin, Constance T CT; Arun, Banu B

Publication Date: 2012-03-15

Variant appearance in text: BRCA2: E908X

PubMed Link: 22009639

Variant Present in the following documents:

• Main text

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Efficiency of BRCAPRO and Myriad II mutation probability thresholds versus cancer history criteria alone for BRCA1/2 mutation detection.

Familial Cancer

van Harssel, J J T JJ; van Roozendaal, C E P CE; Detisch, Y Y; Brandão, R D RD; Paulussen, A D C AD; Zeegers, M M; Blok, M J MJ; Gómez García, E B EB

Publication Date: 2010-06

Variant appearance in text: BRCA2: 2722G>T

PubMed Link: 19949876

Variant Present in the following documents:

• Main text

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Molecular profiles of BRCA1-mutated and matched sporadic breast tumours: relation with clinico-pathological features.

British Journal Of Cancer

Berns, E M EM; van Staveren, I L IL; Verhoog, L L; van de Ouweland, A M AM; Meijer-van Gelder, M M; Meijers-Heijboer, H H; Portengen, H H; Foekens, J A JA; Dorssers, L C LC; Klijn, J G JG

Publication Date: 2001-08-17

Variant appearance in text: BRCA2: E908X

PubMed Link: 11506493

Variant Present in the following documents:

• 85-6691937a.pdf

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