Publications:

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A living biobank of patient-derived ductal carcinoma in situ mouse-intraductal xenografts identifies risk factors for invasive progression.

Cancer Cell

Hutten, Stefan J SJ; de Bruijn, Roebi R; Lutz, Catrin C; Badoux, Madelon M; Eijkman, Timo T; Chao, Xue X; Ciwinska, Marta M; Sheinman, Michael M; Messal, Hendrik H; Herencia-Ropero, Andrea A; Kristel, Petra P; Mulder, Lennart L; van der Waal, Rens R; Sanders, Joyce J; Almekinders, Mathilde M MM; Llop-Guevara, Alba A; Davies, Helen R HR; van Haren, Matthijs J MJ; Martin, Nathaniel I NI; Behbod, Fariba F; Nik-Zainal, Serena S; Serra, Violeta V; van Rheenen, Jacco J; Lips, Esther H EH; Wessels, Lodewyk F A LFA; , ; Wesseling, Jelle J; Scheele, Colinda L G J CLGJ; Jonkers, Jos J

Publication Date: 2023-04-24

Variant appearance in text: BRCA2: R2108C; rs55794205

PubMed Link: 37116492

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Development and validation of a mutation-based model to predict immunotherapeutic efficacy in NSCLC.

Frontiers In Oncology

He, Ping P; Liu, Jie J; Xu, Qingyuan Q; Ma, Huaijun H; Niu, Beifang B; Huang, Gang G; Wu, Wei W

Publication Date: 2023

Variant appearance in text: BRCA2: 6322C>T; R2108C; rs55794205

PubMed Link: 36910641

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 8

View BVdb publication page

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Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Frontiers In Genetics

Keskin Karakoyun, Hilal H; Yüksel, Şirin K ŞK; Amanoglu, Ilayda I; Naserikhojasteh, Lara L; Yeşilyurt, Ahmet A; Yakıcıer, Cengiz C; Timuçin, Emel E; Akyerli, Cemaliye B CB

Publication Date: 2023

Variant appearance in text: BRCA2: R2108C

PubMed Link: 36896237

Variant Present in the following documents:

• Table1.xlsx, sheet 1

View BVdb publication page

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Efficacy and clinicogenomic correlates of response to immune checkpoint inhibitors alone or with chemotherapy in non-small cell lung cancer.

Nature Communications

Hong, Lingzhi L; Aminu, Muhammad M; Li, Shenduo S; Lu, Xuetao X; Petranovic, Milena M; Saad, Maliazurina B MB; Chen, Pingjun P; Qin, Kang K; Varghese, Susan S; Rinsurongkawong, Waree W; Rinsurongkawong, Vadeerat V; Spelman, Amy A; Elamin, Yasir Y YY; Negrao, Marcelo V MV; Skoulidis, Ferdinandos F; Gay, Carl M CM; Cascone, Tina T; Gandhi, Saumil J SJ; Lin, Steven H SH; Lee, Percy P PP; Carter, Brett W BW; Wu, Carol C CC; Antonoff, Mara B MB; Sepesi, Boris B; Lewis, Jeff J; Gibbons, Don L DL; Vaporciyan, Ara A AA; Le, Xiuning X; Jack Lee, J J; Roy-Chowdhuri, Sinchita S; Routbort, Mark J MJ; Gainor, Justin F JF; Heymach, John V JV; Lou, Yanyan Y; Wu, Jia J; Zhang, Jianjun J; Vokes, Natalie I NI

Publication Date: 2023-02-08

Variant appearance in text: BRCA2: 6322C>T; R2108C

PubMed Link: 36755027

Variant Present in the following documents:

• 41467_2023_36328_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Whole-exome sequencing and bioinformatic analyses revealed differences in gene mutation profiles in papillary thyroid cancer patients with and without benign thyroid goitre background.

Frontiers In Endocrinology

Eng, Zing Hong ZH; Abdullah, Mardiaty Iryani MI; Ng, Khoon Leong KL; Abdul Aziz, Azlina A; Arba'ie, Nurul Hannis NH; Mat Rashid, Nurullainy N; Mat Junit, Sarni S

Publication Date: 2022

Variant appearance in text: BRCA2: 6322C>T; Arg2108Cys; rs55794205

PubMed Link: 36686473

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 2

View BVdb publication page

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: BRCA2: R2108C; rs55794205

PubMed Link: 36413997

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

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: BRCA2: 6322C>T; Arg2108Cys

PubMed Link: 36385461

Variant Present in the following documents:

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

View BVdb publication page

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Clinical application of artificial neural network (ANN) modeling to predict BRCA1/2 germline deleterious variants in Chinese bilateral primary breast cancer patients.

Bmc Cancer

Li, Yan Y; Chen, Lili L; Lv, Jinxing J; Chen, Xiaobin X; Zeng, Bangwei B; Chen, Minyan M; Guo, Wenhui W; Lin, Yuxiang Y; Yu, Liuwen L; Hou, Jialin J; Li, Jing J; Zhou, Peng P; Zhang, Wenzhe W; Li, Shengmei S; Jin, Xuan X; Cai, Weifeng W; Zhang, Kun K; Huang, Yeyuan Y; Wang, Chuan C; Fu, Fangmeng F

Publication Date: 2022-11-02

Variant appearance in text: BRCA2: 6322C>T; Arg2108Cys; rs55794205

PubMed Link: 36324133

Variant Present in the following documents:

• 12885_2022_10160_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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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: R2108C

PubMed Link: 35729312

Variant Present in the following documents:

• 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa.

Bmc Cancer

ElBiad, Oubaida O; Laraqui, Abdelilah A; El Boukhrissi, Fatima F; Mounjid, Chaimaa C; Lamsisi, Maryame M; Bajjou, Tahar T; Elannaz, Hicham H; Lahlou, Amine Idriss AI; Kouach, Jaouad J; Benchekroune, Khadija K; Oukabli, Mohammed M; Chahdi, Hafsa H; Ennaji, Moulay Mustapha MM; Tanz, Rachid R; Sbitti, Yassir Y; Ichou, Mohammed M; Ennibi, Khalid K; Badaoui, Bouabid B; Sekhsokh, Yassine Y

Publication Date: 2022-02-25

Variant appearance in text: BRCA2: Arg2108Cys

PubMed Link: 35216584

Variant Present in the following documents:

• Main text
• 12885_2022_Article_9181.pdf

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: BRCA2: 6322C>T; Arg2108Cys; rs55794205

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 6
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 3
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 5

View BVdb publication page

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Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology

Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y

Publication Date: 2021-04-01

Variant appearance in text: BRCA2: R2108C; rs55794205

PubMed Link: 33795819

Variant Present in the following documents:

• 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.

Scientific Reports

von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I

Publication Date: 2021-03-05

Variant appearance in text: BRCA2: 6322C>T; Arg2108Cys; rs55794205

PubMed Link: 33674644

Variant Present in the following documents:

• 41598_2021_84502_MOESM2_ESM.xlsx, sheet 10

View BVdb publication page

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Epidemiological and ES cell-based functional evaluation of BRCA2 variants identified in families with breast cancer.

Human Mutation

Sullivan, Teresa T; Thirthagiri, Eswary E; Chong, Chan-Eng CE; Stauffer, Stacey S; Reid, Susan S; Southon, Eileen E; Hassan, Tiara T; Ravichandran, Aravind A; Wijaya, Eldarina E; Lim, Joanna J; Taib, Nur Aishah Mohd NAM; Fadzli, Farhana F; Yip, Cheng Har CH; Hartman, Mikael M; Li, Jingmei J; van Dam, Rob M RM; North, Susan L SL; Das, Ranabir R; Easton, Douglas F DF; Biswas, Kajal K; Teo, Soo-Hwang SH; Sharan, Shyam K SK; , ; ,

Publication Date: 2021-02

Variant appearance in text: BRCA2: 6322C>T; R2108C

PubMed Link: 33314489

Variant Present in the following documents:

• Main text

View BVdb publication page

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Contribution of BRCA1 and BRCA2 germline mutations to early onset breast cancer: a series from north of Morocco.

Bmc Cancer

Bakkach, Joaira J; Mansouri, Mohamed M; Derkaoui, Touria T; Loudiyi, Ali A; El Fahime, ElMostafa E; Barakat, Amina A; Ghailani Nourouti, Naima N; Martinez De Villarreal, Jaime J; Cortijo Bringas, Carlos C; Bennani Mechita, Mohcine M

Publication Date: 2020-09-07

Variant appearance in text: BRCA2: Arg2108Cys

PubMed Link: 32894085

Variant Present in the following documents:

• Main text
• 12885_2020_Article_7352.pdf

View BVdb publication page

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Consolidated BRCA1/2 Variant Interpretation by MH BRCA Correlates with Predicted PARP Inhibitor Efficacy Association by MH Guide.

International Journal Of Molecular Sciences

Hirotsu, Yosuke Y; Schmidt-Edelkraut, Udo U; Nakagomi, Hiroshi H; Sakamoto, Ikuko I; Hartenfeller, Markus M; Narang, Ram R; Soldatos, Theodoros G TG; Kaduthanam, Sajo S; Wang, Xiaoyue X; Hettich, Stephan S; Brock, Stephan S; Jackson, David B DB; Omata, Masao M

Publication Date: 2020-05-29

Variant appearance in text: BRCA2: R2108C; rs55794205

PubMed Link: 32486089

Variant Present in the following documents:

• Main text
• ijms-21-03895.pdf

View BVdb publication page

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Spectrum of Germline BRCA1 and BRCA2 Variants Identified in 2351 Ovarian and Breast Cancer Patients Referring to a Reference Cancer Hospital of Rome.

Cancers

Santonocito, Concetta C; Rizza, Roberta R; Paris, Ida I; Marchis, Laura De L; Paolillo, Carmela C; Tiberi, Giordana G; Scambia, Giovanni G; Capoluongo, Ettore E

Publication Date: 2020-05-19

Variant appearance in text: BRCA2: 6322C>T; Arg2108Cys; rs55794205

PubMed Link: 32438681

Variant Present in the following documents:

• Main text
• cancers-12-01286.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: BRCA2: 6322C>T; Arg2108Cys

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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Clinical Impact of Somatic Variants in Homologous Recombination Repair-Related Genes in Ovarian High-Grade Serous Carcinoma.

Cancer Research And Treatment

Choi, Min Chul MC; Hwang, Sohyun S; Kim, Sewha S; Jung, Sang Geun SG; Park, Hyun H; Joo, Won Duk WD; Song, Seung Hun SH; Lee, Chan C; Kim, Tae-Heon TH; Kang, Haeyoun H; An, Hee Jung HJ

Publication Date: 2020-04

Variant appearance in text: BRCA2: 6322C>T; Arg2108Cys

PubMed Link: 32019284

Variant Present in the following documents:

• crt-2019-207-suppl2.pdf
• crt-2019-207-suppl3.pdf

View BVdb publication page

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Identification of a novel germline frameshift mutation p.D300fs of PMS1 in a patient with hepatocellular carcinoma: A case report and literature review.

Medicine

Li, Xiaobin X; Wu, Yuling Y; Suo, Peisu P; Liu, Guifeng G; Li, Lifeng L; Zhang, Xiaoni X; Chen, Shifu S; Xu, Mingyan M; Song, Lele L

Publication Date: 2020-01

Variant appearance in text: BRCA2: R2108C; rs55794205

PubMed Link: 32000458

Variant Present in the following documents:

• medi-99-e19076-s001.xlsx, sheet 1

View BVdb publication page

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Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots".

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

Dines, Jennifer N JN; Shirts, Brian H BH; Slavin, Thomas P TP; Walsh, Tom T; King, Mary-Claire MC; Fowler, Douglas M DM; Pritchard, Colin C CC

Publication Date: 2020-05

Variant appearance in text: BRCA2: 6322C>T; R2108C; rs55794205

PubMed Link: 31911673

Variant Present in the following documents:

• 41436_2019_740_MOESM2_ESM.xlsx, sheet 1
• 41436_2019_740_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Maintenance of pegylated liposomal doxorubicin/carboplatin in patients with advanced ovarian cancer: randomized study of an Asian Gynecologic Oncology Group.

Journal Of Gynecologic Oncology

Lai, Chyong Huey CH; Vallikad, Elizabeth E; Lin, Hao H; Yang, Lan Yan LY; Jung, Shih Ming SM; Liu, Hsueh Erh HE; Ou, Yu Che YC; Chou, Hung Hsueh HH; Lin, Cheng Tao CT; Huang, Huei Jean HJ; Huang, Kuan Gen KG; Qiu, Jiantai J; Hung, Yao Ching YC; Wu, Tzu I TI; Chang, Wei Yang WY; Tan, Kien Thiam KT; Lin, Chiao Yun CY; Chao, Angel A; Chang, Chee Jen CJ

Publication Date: 2020-01

Variant appearance in text: BRCA2: 6322C>T; Arg2108Cys

PubMed Link: 31788995

Variant Present in the following documents:

• jgo-31-e5-s004.xls, 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: BRCA2: 6322C>T; Arg2108Cys; rs55794205

PubMed Link: 31666926

Variant Present in the following documents:

• oncotarget-10-5949-s002.xlsx, sheet 1

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: BRCA2: 6322C>T; R2108C

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: BRCA2: R2108C

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 50

View BVdb publication page

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Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

Human Mutation

Parsons, Michael T MT; Tudini, Emma E; Li, Hongyan H; Hahnen, Eric E; Wappenschmidt, Barbara B; Feliubadaló, Lidia L; Aalfs, Cora M CM; Agata, Simona S; Aittomäki, Kristiina K; Alducci, Elisa E; Alonso-Cerezo, María Concepción MC; Arnold, Norbert N; Auber, Bernd B; Austin, Rachel R; Azzollini, Jacopo J; Balmaña, Judith J; Barbieri, Elena E; Bartram, Claus R CR; Blanco, Ana A; Blümcke, Britta B; Bonache, Sandra S; Bonanni, Bernardo B; Borg, Åke Å; Bortesi, Beatrice B; Brunet, Joan J; Bruzzone, Carla C; Bucksch, Karolin K; Cagnoli, Giulia G; Caldés, Trinidad T; Caliebe, Almuth A; Caligo, Maria A MA; Calvello, Mariarosaria M; Capone, Gabriele L GL; Caputo, Sandrine M SM; Carnevali, Ileana I; Carrasco, Estela E; Caux-Moncoutier, Virginie V; Cavalli, Pietro P; Cini, Giulia G; Clarke, Edward M EM; Concolino, Paola P; Cops, Elisa J EJ; Cortesi, Laura L; Couch, Fergus J FJ; Darder, Esther E; de la Hoya, Miguel M; Dean, Michael M; Debatin, Irmgard I; Del Valle, Jesús J; Delnatte, Capucine C; Derive, Nicolas N; Diez, Orland O; Ditsch, Nina N; Domchek, Susan M SM; Dutrannoy, Véronique V; Eccles, Diana M DM; Ehrencrona, Hans H; Enders, Ute U; Evans, D Gareth DG; Farra, Chantal C; Faust, Ulrike U; Felbor, Ute U; Feroce, Irene I; Fine, Miriam M; Foulkes, William D WD; Galvao, Henrique C R HCR; Gambino, Gaetana G; Gehrig, Andrea A; Gensini, Francesca F; Gerdes, Anne-Marie AM; Germani, Aldo A; Giesecke, Jutta J; Gismondi, Viviana V; Gómez, Carolina C; Gómez Garcia, Encarna B EB; González, Sara S; Grau, Elia E; Grill, Sabine S; Gross, Eva E; Guerrieri-Gonzaga, Aliana A; Guillaud-Bataille, Marine M; Gutiérrez-Enríquez, Sara S; Haaf, Thomas T; Hackmann, Karl K; Hansen, Thomas V O TVO; Harris, Marion M; Hauke, Jan J; Heinrich, Tilman T; Hellebrand, Heide H; Herold, Karen N KN; Honisch, Ellen E; Horvath, Judit J; Houdayer, Claude C; Hübbel, Verena V; Iglesias, Silvia S; Izquierdo, Angel A; James, Paul A PA; Janssen, Linda A M LAM; Jeschke, Udo U; Kaulfuß, Silke S; Keupp, Katharina K; Kiechle, Marion M; Kölbl, Alexandra A; Krieger, Sophie S; Kruse, Torben A TA; Kvist, Anders A; Lalloo, Fiona F; Larsen, Mirjam M; Lattimore, Vanessa L VL; Lautrup, Charlotte C; Ledig, Susanne S; Leinert, Elena E; Lewis, Alexandra L AL; Lim, Joanna J; Loeffler, Markus M; López-Fernández, Adrià A; Lucci-Cordisco, Emanuela E; Maass, Nicolai N; Manoukian, Siranoush S; Marabelli, Monica M; Matricardi, Laura L; Meindl, Alfons A; Michelli, Rodrigo D RD; Moghadasi, Setareh S; Moles-Fernández, Alejandro A; Montagna, Marco M; Montalban, Gemma G; Monteiro, Alvaro N AN; Montes, Eva E; Mori, Luigi L; Moserle, Lidia L; Müller, Clemens R CR; Mundhenke, Christoph C; Naldi, Nadia N; Nathanson, Katherine L KL; Navarro, Matilde M; Nevanlinna, Heli H; Nichols, Cassandra B CB; Niederacher, Dieter D; Nielsen, Henriette R HR; Ong, Kai-Ren KR; Pachter, Nicholas N; Palmero, Edenir I EI; Papi, Laura L; Pedersen, Inge Sokilde IS; Peissel, Bernard B; Perez-Segura, Pedro P; Pfeifer, Katharina K; Pineda, Marta M; Pohl-Rescigno, Esther E; Poplawski, Nicola K NK; Porfirio, Berardino B; Quante, Anne S AS; Ramser, Juliane J; Reis, Rui M RM; Revillion, Françoise F; Rhiem, Kerstin K; Riboli, Barbara B; Ritter, Julia J; Rivera, Daniela D; Rofes, Paula P; Rump, Andreas A; Salinas, Monica M; Sánchez de Abajo, Ana María AM; Schmidt, Gunnar G; Schoenwiese, Ulrike U; Seggewiß, Jochen J; Solanes, Ares A; Steinemann, Doris D; Stiller, Mathias M; Stoppa-Lyonnet, Dominique D; Sullivan, Kelly J KJ; Susman, Rachel R; Sutter, Christian C; Tavtigian, Sean V SV; Teo, Soo H SH; Teulé, Alex A; Thomassen, Mads M; Tibiletti, Maria Grazia MG; Tischkowitz, Marc M; Tognazzo, Silvia S; Toland, Amanda E AE; Tornero, Eva E; Törngren, Therese T; Torres-Esquius, Sara S; Toss, Angela A; Trainer, Alison H AH; Tucker, Katherine M KM; van Asperen, Christi J CJ; van Mackelenbergh, Marion T MT; Varesco, Liliana L; Vargas-Parra, Gardenia G; Varon, Raymonda R; Vega, Ana A; Velasco, Ángela Á; Vesper, Anne-Sophie AS; Viel, Alessandra A; Vreeswijk, Maaike P G MPG; Wagner, Sebastian A SA; Waha, Anke A; Walker, Logan C LC; Walters, Rhiannon J RJ; Wang-Gohrke, Shan S; Weber, Bernhard H F BHF; Weichert, Wilko W; Wieland, Kerstin K; Wiesmüller, Lisa L; Witzel, Isabell I; Wöckel, Achim A; Woodward, Emma R ER; Zachariae, Silke S; Zampiga, Valentina V; Zeder-Göß, Christine C; , ; Lázaro, Conxi C; De Nicolo, Arcangela A; Radice, Paolo P; Engel, Christoph C; Schmutzler, Rita K RK; Goldgar, David E DE; Spurdle, Amanda B AB

Publication Date: 2019-09

Variant appearance in text: BRCA2: 6322C>T

PubMed Link: 31131967

Variant Present in the following documents:

• HUMU-40-1557-s001.xlsx, sheet 2
• HUMU-40-1557-s001.xlsx, sheet 1

View BVdb publication page

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Data-adaptive multi-locus association testing in subjects with arbitrary genealogical relationships.

Statistical Applications In Genetics And Molecular Biology

Gong, Gail G; Wang, Wei W; Hsieh, Chih-Lin CL; Van Den Berg, David J DJ; Haiman, Christopher C; Oakley-Girvan, Ingrid I; Whittemore, Alice S AS

Publication Date: 2019-04-08

Variant appearance in text: BRCA2: R2108C

PubMed Link: 30956231

Variant Present in the following documents:

• Main text

View BVdb publication page

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Toward automation of germline variant curation in clinical cancer genetics.

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

Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J

Publication Date: 2019-09

Variant appearance in text: BRCA2: 6322C>T; Arg2108Cys

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6

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: rs55794205

PubMed Link: 30702160

Variant Present in the following documents:

• IJC-145-962-s007.xlsx, sheet 1
• IJC-145-962-s005.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: BRCA2: 6322C>T; Arg2108Cys; rs55794205

PubMed Link: 30287823

Variant Present in the following documents:

• 41467_2018_6581_MOESM4_ESM.xlsx, sheet 1
• 41467_2018_6581_MOESM5_ESM.xlsx, sheet 1

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Dealing With BRCA1/2 Unclassified Variants in a Cancer Genetics Clinic: Does Cosegregation Analysis Help?

Frontiers In Genetics

Zuntini, Roberta R; Ferrari, Simona S; Bonora, Elena E; Buscherini, Francesco F; Bertonazzi, Benedetta B; Grippa, Mina M; Godino, Lea L; Miccoli, Sara S; Turchetti, Daniela D

Publication Date: 2018

Variant appearance in text: BRCA2: 6322C>T; Arg2108Cys

PubMed Link: 30254663

Variant Present in the following documents:

• Main text
• fgene-09-00378.pdf

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A Bayesian framework for efficient and accurate variant prediction.

Plos One

Qian, Dajun D; Li, Shuwei S; Tian, Yuan Y; Clifford, Jacob W JW; Sarver, Brice A J BAJ; Pesaran, Tina T; Gau, Chia-Ling CL; Elliott, Aaron M AM; Lu, Hsiao-Mei HM; Black, Mary Helen MH

Publication Date: 2018

Variant appearance in text: BRCA2: 6322C>T; R2108C

PubMed Link: 30212499

Variant Present in the following documents:

• pone.0203553.s008.xlsx, sheet 2

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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: R2108C

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

View BVdb publication page

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SMAD4 and NF1 mutations as potential biomarkers for poor prognosis to cetuximab-based therapy in Chinese metastatic colorectal cancer patients.

Bmc Cancer

Mei, Zhu Z; Shao, Yang W YW; Lin, Peinan P; Cai, Xiaomin X; Wang, Biao B; Ding, Yan Y; Ma, Xiangyuan X; Wu, Xue X; Xia, Yewei Y; Zhu, Dongqin D; Shu, Yongqian Y; Fu, Zan Z; Gu, Yanhong Y

Publication Date: 2018-04-27

Variant appearance in text: BRCA2: R2108C

PubMed Link: 29703253

Variant Present in the following documents:

• 12885_2018_4298_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One

Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK

Publication Date: 2018

Variant appearance in text: BRCA2: 6322C>T; Arg2108Cys; rs55794205

PubMed Link: 29641532

Variant Present in the following documents:

• pone.0194098.s003.xlsx, sheet 2

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Performance of in silico prediction tools for the classification of rare BRCA1/2 missense variants in clinical diagnostics.

Bmc Medical Genomics

Ernst, Corinna C; Hahnen, Eric E; Engel, Christoph C; Nothnagel, Michael M; Weber, Jonas J; Schmutzler, Rita K RK; Hauke, Jan J

Publication Date: 2018-03-27

Variant appearance in text: BRCA2: R2108C

PubMed Link: 29580235

Variant Present in the following documents:

• 12920_2018_353_MOESM1_ESM.xlsx, sheet 1

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The frequency of cancer predisposition gene mutations in hereditary breast and ovarian cancer patients in Taiwan: From BRCA1/2 to multi-gene panels.

Plos One

Sung, Pi-Lin PL; Wen, Kuo-Chang KC; Chen, Yi-Jen YJ; Chao, Ta-Chung TC; Tsai, Yi-Fang YF; Tseng, Ling-Ming LM; Qiu, Jian-Tai Timothy JT; Chao, Kuan-Chong KC; Wu, Hua-Hsi HH; Chuang, Chi-Mu CM; Wang, Peng-Hui PH; Huang, Chi-Ying F CF

Publication Date: 2017

Variant appearance in text: BRCA2: 6322C>T; R2108C

PubMed Link: 28961279

Variant Present in the following documents:

• Main text
• pone.0185615.pdf

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Development and validation of a variant detection workflow for BRCA1 and BRCA2 genes and its clinical application based on the Ion Torrent technology.

Human Genomics

Buzolin, Ana Lígia AL; Moreira, Caroline Mônaco CM; Sacramento, Patricia Rossi PR; Oku, Andre Yuji AY; Fornari, Alexandre Ricardo Dos Santos ARDS; Antonio, David Santos Marco DSM; Quaio, Caio Robledo D Angioli Costa CRDAC; Baratela, Wagner Rosa WR; Mitne-Neto, Miguel M

Publication Date: 2017-06-26

Variant appearance in text: BRCA2: 6322C>T; Arg2108Cys

PubMed Link: 28651617

Variant Present in the following documents:

• Main text
• 40246_2017_Article_110.pdf

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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: BRCA2: 6322C>T; Arg2108Cys

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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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: 6322C>T; Arg2108Cys; rs55794205

PubMed Link: 28392550

Variant Present in the following documents:

• Main text

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Characterization of BRCA1 and BRCA2 variants in multi-ethnic Asian cohort from a Malaysian case-control study.

Bmc Cancer

Lai, Kah Nyin KN; Ho, Weang Kee WK; Kang, In Nee IN; Kang, Peter Choon Eng PC; Phuah, Sze Yee SY; Mariapun, Shivaani S; Yip, Cheng-Har CH; Mohd Taib, Nur Aishah NA; Teo, Soo-Hwang SH

Publication Date: 2017-02-22

Variant appearance in text: BRCA2: Arg2108Cys

PubMed Link: 28222693

Variant Present in the following documents:

• Main text
• 12885_2017_Article_3099.pdf

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: BRCA2: R2108C

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s4.xls, sheet 1

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Multi-platform molecular profiling of a large cohort of glioblastomas reveals potential therapeutic strategies.

Oncotarget

Xiu, Joanne J; Piccioni, David D; Juarez, Tiffany T; Pingle, Sandeep C SC; Hu, Jethro J; Rudnick, Jeremy J; Fink, Karen K; Spetzler, David B DB; Maney, Todd T; Ghazalpour, Anatole A; Bender, Ryan R; Gatalica, Zoran Z; Reddy, Sandeep S; Sanai, Nader N; Idbaih, Ahmed A; Glantz, Michael M; Kesari, Santosh S

Publication Date: 2016-04-19

Variant appearance in text: BRCA2: R2108C

PubMed Link: 26933808

Variant Present in the following documents:

• oncotarget-07-21556-s001.pdf

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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: BRCA2: 6322C>T; Arg2108Cys

PubMed Link: 26848529

Variant Present in the following documents:

• oncotarget-07-9600-s003.xlsx, sheet 1

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs55794205

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Spectrum and frequencies of BRCA1/2 mutations in Bulgarian high risk breast cancer patients.

Bmc Cancer

Dodova, Rumyana Ivanova RI; Mitkova, Atanaska Velichkova AV; Dacheva, Daniela Rosenova DR; Hadjo, Lina Basam LB; Vlahova, Alexandrina Ivanova AI; -Hadjieva, Margarita Stoyanova Taushanova MST; Valev, Spartak Stoyanov SS; Caulevska, Marija Mitko MM; Popova, Stanislava Dimitrova SD; Popov, Ivan Emilov IE; Dikov, Tihomir Iliichev TI; Sedloev, Theophil Angelov TA; Ionkov, Atanas Stefanov AS; Timcheva, Konstanta Velinova KV; Christova, Svetlana Liubomirova SL; Kremensky, Ivo Marinov IM; Mitev, Vanio Ivanov VI; Kaneva, Radka Petrova RP

Publication Date: 2015-07-17

Variant appearance in text: BRCA2: Arg2108Cys

PubMed Link: 26183948

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comparison of locus-specific databases for BRCA1 and BRCA2 variants reveals disparity in variant classification within and among databases.

Journal Of Community Genetics

Vail, Paris J PJ; Morris, Brian B; van Kan, Aric A; Burdett, Brianna C BC; Moyes, Kelsey K; Theisen, Aaron A; Kerr, Iain D ID; Wenstrup, Richard J RJ; Eggington, Julie M JM

Publication Date: 2015-10

Variant appearance in text: BRCA2: 6322C>T; Arg2108Cys

PubMed Link: 25782689

Variant Present in the following documents:

• Main text
• 12687_2015_Article_220.pdf

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BRCA1 and BRCA2 mutations in ethnic Lebanese Arab women with high hereditary risk breast cancer.

The Oncologist

El Saghir, Nagi S NS; Zgheib, Nathalie K NK; Assi, Hussein A HA; Khoury, Katia E KE; Bidet, Yannick Y; Jaber, Sara M SM; Charara, Raghid N RN; Farhat, Rania A RA; Kreidieh, Firas Y FY; Decousus, Stephanie S; Romero, Pierre P; Nemer, Georges M GM; Salem, Ziad Z; Shamseddine, Ali A; Tfayli, Arafat A; Abbas, Jaber J; Jamali, Faek F; Seoud, Muhieddine M; Armstrong, Deborah K DK; Bignon, Yves-Jean YJ; Uhrhammer, Nancy N

Publication Date: 2015-04

Variant appearance in text: BRCA2: 6322C>T

PubMed Link: 25777348

Variant Present in the following documents:

• Main text

View BVdb publication page

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Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.

Genome Biology

Martelotto, Luciano G LG; Ng, Charlotte Ky CK; De Filippo, Maria R MR; Zhang, Yan Y; Piscuoglio, Salvatore S; Lim, Raymond S RS; Shen, Ronglai R; Norton, Larry L; Reis-Filho, Jorge S JS; Weigelt, Britta B

Publication Date: 2014-10-28

Variant appearance in text: BRCA2: R2108C

PubMed Link: 25348012

Variant Present in the following documents:

• 13059_2014_484_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One

Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE

Publication Date: 2014

Variant appearance in text: BRCA2: R2108C; rs55794205

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1

View BVdb publication page

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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: rs55794205

PubMed Link: 24504028

Variant Present in the following documents:

• srep04026-s1.pdf

View BVdb publication page

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Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation.

Plos One

Whiley, Phillip J PJ; Parsons, Michael T MT; Leary, Jennifer J; Tucker, Kathy K; Warwick, Linda L; Dopita, Belinda B; Thorne, Heather H; Lakhani, Sunil R SR; Goldgar, David E DE; Brown, Melissa A MA; Spurdle, Amanda B AB

Publication Date: 2014

Variant appearance in text: BRCA2: Arg2108Cys

PubMed Link: 24489791

Variant Present in the following documents:

• Main text

View BVdb publication page

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Functional assays for analysis of variants of uncertain significance in BRCA2.

Human Mutation

Guidugli, Lucia L; Carreira, Aura A; Caputo, Sandrine M SM; Ehlen, Asa A; Galli, Alvaro A; Monteiro, Alvaro N A AN; Neuhausen, Susan L SL; Hansen, Thomas V O TV; Couch, Fergus J FJ; Vreeswijk, Maaike P G MP; ,

Publication Date: 2014-02

Variant appearance in text: BRCA2: Arg2108Cys

PubMed Link: 24323938

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

Plos Genetics

Haiman, Christopher A CA; Han, Ying Y; Feng, Ye Y; Xia, Lucy L; Hsu, Chris C; Sheng, Xin X; Pooler, Loreall C LC; Patel, Yesha Y; Kolonel, Laurence N LN; Carter, Erin E; Park, Karen K; Le Marchand, Loic L; Van Den Berg, David D; Henderson, Brian E BE; Stram, Daniel O DO

Publication Date: 2013-03

Variant appearance in text: BRCA2: R2108C; rs55794205

PubMed Link: 23555315

Variant Present in the following documents:

• pgen.1003419.s008.xlsx, sheet 1
• pgen.1003419.s009.xlsx, sheet 1

View BVdb publication page

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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: R2108C

PubMed Link: 23469205

Variant Present in the following documents:

• Main text
• pone.0057581.pdf

View BVdb publication page

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Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon.

Hereditary Cancer In Clinical Practice

Jalkh, Nadine N; Nassar-Slaba, Jinane J; Chouery, Eliane E; Salem, Nabiha N; Uhrchammer, Nancy N; Golmard, Lisa L; Stoppa-Lyonnet, Domique D; Bignon, Yves-Jean YJ; Mégarbané, André A

Publication Date: 2012-06-19

Variant appearance in text: BRCA2: R2108C

PubMed Link: 22713736

Variant Present in the following documents:

• Main text
• 1897-4287-10-7.pdf

View BVdb publication page

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Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer.

Breast Cancer Research : Bcr

Thirthagiri, E E; Lee, S Y SY; Kang, P P; Lee, D S DS; Toh, G T GT; Selamat, S S; Yoon, S-Y SY; Taib, N A Mohd NA; Thong, M K MK; Yip, C H CH; Teo, S H SH

Publication Date: 2008

Variant appearance in text: BRCA2: R2108C

PubMed Link: 18627636

Variant Present in the following documents:

• Main text

View BVdb publication page

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BRCA1 and BRCA2 germline mutation analysis in the Indonesian population.

Breast Cancer Research And Treatment

Purnomosari, Dewajani D; Pals, Gerard G; Wahyono, Artanto A; Aryandono, Teguh T; Manuaba, Tjakra W TW; Haryono, Samuel J SJ; van Diest, Paul J PJ

Publication Date: 2007-12

Variant appearance in text: BRCA2: Arg2108Cys

PubMed Link: 17972177

Variant Present in the following documents:

• 10549_2006_Article_9493.pdf

View BVdb publication page

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