Publications:

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Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications

White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C

Publication Date: 2022-09

Variant appearance in text: BRCA1: 3640G>T; Glu1214Ter; rs80356923

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: BRCA1: 3640G>T; Glu1214Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.

Plos One

Rao, Nandana D ND; Shirts, Brian H BH

Publication Date: 2023

Variant appearance in text: BRCA1: 3640G>T

PubMed Link: 36753473

Variant Present in the following documents:

• pone.0278010.s002.xlsx, sheet 1

View BVdb publication page

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Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics

G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A

Publication Date: 2022

Variant appearance in text: rs80356923

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 2

View BVdb publication page

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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: 3640G>T; Glu1214*; rs80356923

PubMed Link: 36385461

Variant Present in the following documents:

• IJC-152-1159-s011.xlsx, sheet 1
• IJC-152-1159-s011.xlsx, sheet 3
• IJC-152-1159-s006.xlsx, sheet 2
• IJC-152-1159-s010.xlsx, sheet 1
• IJC-152-1159-s002.xlsx, sheet 1
• IJC-152-1159-s010.xlsx, sheet 4

View BVdb publication page

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Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.

Communications Biology

Hakkaart, Christopher C; Pearson, John F JF; Marquart, Louise L; Dennis, Joe J; Wiggins, George A R GAR; Barnes, Daniel R DR; Robinson, Bridget A BA; Mace, Peter D PD; Aittomäki, Kristiina K; Andrulis, Irene L IL; Arun, Banu K BK; Azzollini, Jacopo J; Balmaña, Judith J; Barkardottir, Rosa B RB; Belhadj, Sami S; Berger, Lieke L; Blok, Marinus J MJ; Boonen, Susanne E SE; Borde, Julika J; Bradbury, Angela R AR; Brunet, Joan J; Buys, Saundra S SS; Caligo, Maria A MA; Campbell, Ian I; Chung, Wendy K WK; Claes, Kathleen B M KBM; , ; , ; Collonge-Rame, Marie-Agnès MA; Cook, Jackie J; Cosgrove, Casey C; Couch, Fergus J FJ; Daly, Mary B MB; Dandiker, Sita S; Davidson, Rosemarie R; de la Hoya, Miguel M; de Putter, Robin R; Delnatte, Capucine C; Dhawan, Mallika M; Diez, Orland O; Ding, Yuan Chun YC; Domchek, Susan M SM; Donaldson, Alan A; Eason, Jacqueline J; Easton, Douglas F DF; Ehrencrona, Hans H; Engel, Christoph C; Evans, D Gareth DG; Faust, Ulrike U; Feliubadaló, Lidia L; Fostira, Florentia F; Friedman, Eitan E; Frone, Megan M; Frost, Debra D; Garber, Judy J; Gayther, Simon A SA; Gehrig, Andrea A; Gesta, Paul P; Godwin, Andrew K AK; Goldgar, David E DE; Greene, Mark H MH; Hahnen, Eric E; Hake, Christopher R CR; Hamann, Ute U; Hansen, Thomas V O TVO; Hauke, Jan J; Hentschel, Julia J; Herold, Natalie N; Honisch, Ellen E; Hulick, Peter J PJ; Imyanitov, Evgeny N EN; , ; , ; , ; Isaacs, Claudine C; Izatt, Louise L; Izquierdo, Angel A; Jakubowska, Anna A; James, Paul A PA; Janavicius, Ramunas R; John, Esther M EM; Joseph, Vijai V; Karlan, Beth Y BY; Kemp, Zoe Z; Kirk, Judy J; Konstantopoulou, Irene I; Koudijs, Marco M; Kwong, Ava A; Laitman, Yael Y; Lalloo, Fiona F; Lasset, Christine C; Lautrup, Charlotte C; Lazaro, Conxi C; Legrand, Clémentine C; Leslie, Goska G; Lesueur, Fabienne F; Mai, Phuong L PL; Manoukian, Siranoush S; Mari, Véronique V; Martens, John W M JWM; McGuffog, Lesley L; Mebirouk, Noura N; Meindl, Alfons A; Miller, Austin A; Montagna, Marco M; Moserle, Lidia L; Mouret-Fourme, Emmanuelle E; Musgrave, Hannah H; Nambot, Sophie S; Nathanson, Katherine L KL; Neuhausen, Susan L SL; Nevanlinna, Heli H; Yie, Joanne Ngeow Yuen JNY; Nguyen-Dumont, Tu T; Nikitina-Zake, Liene L; Offit, Kenneth K; Olah, Edith E; Olopade, Olufunmilayo I OI; Osorio, Ana A; Ott, Claus-Eric CE; Park, Sue K SK; Parsons, Michael T MT; Pedersen, Inge Sokilde IS; Peixoto, Ana A; Perez-Segura, Pedro P; Peterlongo, Paolo P; Pocza, Timea T; Radice, Paolo P; Ramser, Juliane J; Rantala, Johanna J; Rodriguez, Gustavo C GC; Rønlund, Karina K; Rosenberg, Efraim H EH; Rossing, Maria M; Schmutzler, Rita K RK; Shah, Payal D PD; Sharif, Saba S; Sharma, Priyanka P; Side, Lucy E LE; Simard, Jacques J; Singer, Christian F CF; Snape, Katie K; Steinemann, Doris D; Stoppa-Lyonnet, Dominique D; Sutter, Christian C; Tan, Yen Yen YY; Teixeira, Manuel R MR; Teo, Soo Hwang SH; Thomassen, Mads M; Thull, Darcy L DL; Tischkowitz, Marc M; Toland, Amanda E AE; Trainer, Alison H AH; Tripathi, Vishakha V; Tung, Nadine N; van Engelen, Klaartje K; van Rensburg, Elizabeth J EJ; Vega, Ana A; Viel, Alessandra A; Walker, Lisa L; Weitzel, Jeffrey N JN; Wevers, Marike R MR; Chenevix-Trench, Georgia G; Spurdle, Amanda B AB; Antoniou, Antonis C AC; Walker, Logan C LC

Publication Date: 2022-10-06

Variant appearance in text: BRCA1: 3640G>T; Glu1214X

PubMed Link: 36203093

Variant Present in the following documents:

• 42003_2022_3978_MOESM4_ESM.xlsx, sheet 14

View BVdb publication page

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Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants.

Jama Oncology

Momozawa, Yukihide Y; Sasai, Rumi R; Usui, Yoshiaki Y; Shiraishi, Kouya K; Iwasaki, Yusuke Y; Taniyama, Yukari Y; Parsons, Michael T MT; Mizukami, Keijiro K; Sekine, Yuya Y; Hirata, Makoto M; Kamatani, Yoichiro Y; Endo, Mikiko M; Inai, Chihiro C; Takata, Sadaaki S; Ito, Hidemi H; Kohno, Takashi T; Matsuda, Koichi K; Nakamura, Seigo S; Sugano, Kokichi K; Yoshida, Teruhiko T; Nakagawa, Hidewaki H; Matsuo, Keitaro K; Murakami, Yoshinori Y; Spurdle, Amanda B AB; Kubo, Michiaki M

Publication Date: 2022-06-01

Variant appearance in text: BRCA1: 3640G>T; Glu1214*; rs80356923

PubMed Link: 35420638

Variant Present in the following documents:

• jamaoncol-e220476-s001.pdf

View BVdb publication page

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Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology

Li, Na N; Wang, Jiahong J; Zhan, Xianquan X

Publication Date: 2021

Variant appearance in text: BRCA1: 3640G>T; E1214*

PubMed Link: 34887858

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

View BVdb publication page

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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: BRCA1: 3640G>T; Glu1214Ter; rs80356923

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 3
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 5
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

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Clinical characteristics and prognostic implications of BRCA-associated tumors in males: a pan-tumor survey.

Bmc Cancer

Sun, Peng P; Li, Yue Y; Chao, Xue X; Li, Jibin J; Luo, Rongzhen R; Li, Mei M; He, Jiehua J

Publication Date: 2020-10-14

Variant appearance in text: BRCA1: E1214*

PubMed Link: 33054725

Variant Present in the following documents:

• 12885_2020_7481_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: BRCA1: E1214*

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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Association of gBRCA1/2 mutation locations with ovarian cancer risk in Japanese patients from the CHARLOTTE study.

Cancer Science

Yoshihara, Kosuke K; Enomoto, Takayuki T; Aoki, Daisuke D; Watanabe, Yoh Y; Kigawa, Junzo J; Takeshima, Nobuhiro N; Inomata, Hyoe H; Hattori, Kana K; Jinushi, Masahisa M; Tsuda, Hitoshi H; Sugiyama, Toru T

Publication Date: 2020-09

Variant appearance in text: BRCA1: E1214*

PubMed Link: 32495382

Variant Present in the following documents:

• CAS-111-3350.pdf

View BVdb publication page

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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: BRCA1: 3640G>T; Glu1214X

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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Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: BRCA1: 3640G>T; E1214*

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.

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

Li, Hongyan H; LaDuca, Holly H; Pesaran, Tina T; Chao, Elizabeth C EC; Dolinsky, Jill S JS; Parsons, Michael M; Spurdle, Amanda B AB; Polley, Eric C EC; Shimelis, Hermela H; Hart, Steven N SN; Hu, Chunling C; Couch, Fergus J FJ; Goldgar, David E DE

Publication Date: 2020-04

Variant appearance in text: BRCA1: 3640G>T

PubMed Link: 31853058

Variant Present in the following documents:

• 41436_2019_729_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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Prevalence of hereditary breast and ovarian cancer (HBOC) predisposition gene mutations among 882 HBOC high-risk Chinese individuals.

Cancer Science

Shao, Di D; Cheng, Shaomin S; Guo, Fengming F; Zhu, Changbin C; Yuan, Yuying Y; Hu, Kunling K; Wang, Zhe Z; Meng, Xuan X; Jin, Xin X; Xiong, Yun Y; Chai, Xianghua X; Li, Hong H; Zhang, Yu Y; Zhang, Hongyun H; Liu, Jihong J; Ye, Mingzhi M

Publication Date: 2020-02

Variant appearance in text: BRCA1: 3640G>T; Glu1214*

PubMed Link: 31742824

Variant Present in the following documents:

• CAS-111-647-s001.xlsx, sheet 1

View BVdb publication page

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Germline mutations in cancer-predisposition genes in patients with biliary tract cancer.

Oncotarget

Terashima, Takeshi T; Umemoto, Kumiko K; Takahashi, Hideaki H; Hosoi, Hiroko H; Takai, Erina E; Kondo, Shunsuke S; Sakamoto, Yasunari Y; Mitsunaga, Shuichi S; Ohno, Izumi I; Hashimoto, Yusuke Y; Sasaki, Mitsuhito M; Ikeda, Masafumi M; Shimada, Kazuaki K; Kaneko, Shuichi S; Yachida, Shinichi S; Sugano, Kokichi K; Okusaka, Takuji T; Morizane, Chigusa C

Publication Date: 2019-10-15

Variant appearance in text: BRCA1: 3640G>T; Glu1214Ter; rs80356923

PubMed Link: 31666926

Variant Present in the following documents:

• Main text
• oncotarget-10-5949.pdf

View BVdb publication page

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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: BRCA1: 3640G>T

PubMed Link: 30702160

Variant Present in the following documents:

• IJC-145-962.pdf
• IJC-145-962-s009.xlsx, sheet 2
• IJC-145-962-s004.xlsx, sheet 1
• IJC-145-962-s008.xlsx, sheet 1

View BVdb publication page

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Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Nature Communications

Momozawa, Yukihide Y; Iwasaki, Yusuke Y; Parsons, Michael T MT; Kamatani, Yoichiro Y; Takahashi, Atsushi A; Tamura, Chieko C; Katagiri, Toyomasa T; Yoshida, Teruhiko T; Nakamura, Seigo S; Sugano, Kokichi K; Miki, Yoshio Y; Hirata, Makoto M; Matsuda, Koichi K; Spurdle, Amanda B AB; Kubo, Michiaki M

Publication Date: 2018-10-04

Variant appearance in text: BRCA1: 3640G>T; Glu1214*; rs80356923

PubMed Link: 30287823

Variant Present in the following documents:

• 41467_2018_6581_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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High rate of occult cancer found in prophylactic mastectomy specimens despite thorough presurgical assessment with MRI and ultrasound: findings from the Hereditary Breast and Ovarian Cancer Registration 2016 in Japan.

Breast Cancer Research And Treatment

Yamauchi, Hideko H; Okawa, Megumi M; Yokoyama, Shiro S; Nakagawa, Chizuko C; Yoshida, Reiko R; Suzuki, Koyu K; Nakamura, Seigo S; Arai, Masami M

Publication Date: 2018-12

Variant appearance in text: BRCA1: E1214X

PubMed Link: 30203341

Variant Present in the following documents:

• Main text
• 10549_2018_Article_4953.pdf

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: BRCA1: 3640G>T

PubMed Link: 29907814

Variant Present in the following documents:

• Main text
• 41598_2018_27315_MOESM1_ESM.xlsx, sheet 1
• 41598_2018_27315_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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Multicenter cross-sectional screening of the BRCA gene for Chinese high hereditary risk breast cancer populations.

Oncology Letters

Wei, Hongyi H; Wang, Minghao M; Ou, Jianghua J; Jiang, Weihua W; Tian, Fuguo F; Sheng, Yuan Y; Li, Hengyu H; Xu, Hong H; Zhang, Ruishan R; Guan, Aihua A; Wang, Changqing C; Jiang, Hongchuan H; Ren, Yu Y; He, Jianjun J; Liu, Jian J; Huang, Weiwei W; Liao, Ning N; Cai, Xiangjun X; Ming, Jia J; Ling, Rui R; Xu, Yan Y; Hu, Chunyan C; Zhang, Jianguo J; Guo, Baoliang B; Ouyang, Lizhi L; Shuai, Ping P; Liu, Zhenzhen Z; Zhong, Ling L; Jing, Ruilin R; Zeng, Zhen Z; Zhang, Meng M; Zhang, Ting T; Xuan, Zhaoling Z; Tan, Xuanni X; Liang, Junbin J; Pan, Qinwen Q; Chen, Li L; Zhang, Fan F; Fan, Linjun L; Zhang, Yi Y; Yang, Xinhua X; Li, Jingbo J; Chen, Chongjian C; Jiang, Jun J

Publication Date: 2018-06

Variant appearance in text: BRCA1: 3640G>T; Glu1214Ter

PubMed Link: 29805665

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer.

Cancer Cell

Hellmann, Matthew D MD; Nathanson, Tavi T; Rizvi, Hira H; Creelan, Benjamin C BC; Sanchez-Vega, Francisco F; Ahuja, Arun A; Ni, Ai A; Novik, Jacki B JB; Mangarin, Levi M B LMB; Abu-Akeel, Mohsen M; Liu, Cailian C; Sauter, Jennifer L JL; Rekhtman, Natasha N; Chang, Eliza E; Callahan, Margaret K MK; Chaft, Jamie E JE; Voss, Martin H MH; Tenet, Megan M; Li, Xue-Mei XM; Covello, Kelly K; Renninger, Andrea A; Vitazka, Patrik P; Geese, William J WJ; Borghaei, Hossein H; Rudin, Charles M CM; Antonia, Scott J SJ; Swanton, Charles C; Hammerbacher, Jeff J; Merghoub, Taha T; McGranahan, Nicholas N; Snyder, Alexandra A; Wolchok, Jedd D JD

Publication Date: 2018-05-14

Variant appearance in text: BRCA1: E1214*

PubMed Link: 29657128

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

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: BRCA1: 3640G>T; Glu1214Ter

PubMed Link: 29176636

Variant Present in the following documents:

• Main text
• 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: BRCA1: 3640G>T; Glu1214Ter

PubMed Link: 29176636

Variant Present in the following documents:

• Main text
• 10038_2017_Article_355.pdf

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: BRCA1: 3640G>T; Glu1214Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Prevalence and spectrum of BRCA germline variants in mainland Chinese familial breast and ovarian cancer patients.

Oncotarget

Kim, Yeong C YC; Zhao, Linli L; Zhang, Hanwen H; Huang, Ye Y; Cui, Jian J; Xiao, Fengxia F; Downs, Bradley B; Wang, San Ming SM

Publication Date: 2016-02-23

Variant appearance in text: BRCA1: 3640G>T

PubMed Link: 26848529

Variant Present in the following documents:

• Main text
• oncotarget-07-9600.pdf
• oncotarget-07-9600-s002.xlsx, sheet 1

View BVdb publication page

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The spectrum of BRCA1 and BRCA2 alleles in Latin America and the Caribbean: a clinical perspective.

Breast Cancer Research And Treatment

Dutil, Julie J; Golubeva, Volha A VA; Pacheco-Torres, Alba L AL; Diaz-Zabala, Hector J HJ; Matta, Jaime L JL; Monteiro, Alvaro N AN

Publication Date: 2015-12

Variant appearance in text: BRCA1: 3640G>T; E1214X; rs80356923

PubMed Link: 26564481

Variant Present in the following documents:

• 10549_2015_3629_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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TP53 mutations, tetraploidy and homologous recombination repair defects in early stage high-grade serous ovarian cancer.

Nucleic Acids Research

Chien, Jeremy J; Sicotte, Hugues H; Fan, Jian-Bing JB; Humphray, Sean S; Cunningham, Julie M JM; Kalli, Kimberly R KR; Oberg, Ann L AL; Hart, Steven N SN; Li, Ying Y; Davila, Jaime I JI; Baheti, Saurabh S; Wang, Chen C; Dietmann, Sabine S; Atkinson, Elizabeth J EJ; Asmann, Yan W YW; Bell, Debra A DA; Ota, Takayo T; Tarabishy, Yaman Y; Kuang, Rui R; Bibikova, Marina M; Cheetham, R Keira RK; Grocock, Russell J RJ; Swisher, Elizabeth M EM; Peden, John J; Bentley, David D; Kocher, Jean-Pierre A JP; Kaufmann, Scott H SH; Hartmann, Lynn C LC; Shridhar, Viji V; Goode, Ellen L EL

Publication Date: 2015-08-18

Variant appearance in text: rs80356923

PubMed Link: 25916844

Variant Present in the following documents:

• Main text
• gkv111.pdf

View BVdb publication page

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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: E1214X

PubMed Link: 24884479

Variant Present in the following documents:

• Main text
• 1471-2350-15-55.pdf

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Germline BRCA1 mutations increase prostate cancer risk.

British Journal Of Cancer

Leongamornlert, D D; Mahmud, N N; Tymrakiewicz, M M; Saunders, E E; Dadaev, T T; Castro, E E; Goh, C C; Govindasami, K K; Guy, M M; O'Brien, L L; Sawyer, E E; Hall, A A; Wilkinson, R R; Easton, D D; , ; Goldgar, D D; Eeles, R R; Kote-Jarai, Z Z

Publication Date: 2012-05-08

Variant appearance in text: rs80356923

PubMed Link: 22516946

Variant Present in the following documents:

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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: BRCA1: E1214X

PubMed Link: 11506493

Variant Present in the following documents:

• 85-6691937a.pdf

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