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: BRCA2: 73G>A; Gly25Arg; rs80358961

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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Genetically Engineered Mouse Models for Hereditary Cancer Syndromes.

Cancer Science

Biswas, Kajal K; Mohammed, Altaf A; Sharan, Shyam K SK; Shoemaker, Robert H RH

Publication Date: 2023-01-30

Variant appearance in text: BRCA2: G25R

PubMed Link: 36715493

Variant Present in the following documents:

• Main text

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: rs80358961

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 3

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: G25R

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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BRCA2 associates with MCM10 to suppress PRIMPOL-mediated repriming and single-stranded gap formation after DNA damage.

Nature Communications

Kang, Zhihua Z; Fu, Pan P; Alcivar, Allen L AL; Fu, Haiqing H; Redon, Christophe C; Foo, Tzeh Keong TK; Zuo, Yamei Y; Ye, Caiyong C; Baxley, Ryan R; Madireddy, Advaitha A; Buisson, Remi R; Bielinsky, Anja-Katrin AK; Zou, Lee L; Shen, Zhiyuan Z; Aladjem, Mirit I MI; Xia, Bing B

Publication Date: 2021-10-13

Variant appearance in text: BRCA2: G25R

PubMed Link: 34645815

Variant Present in the following documents:

• Main text
• 41467_2021_Article_26227.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: 73G>A; G25R; rs80358961

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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Mouse Models for Deciphering the Impact of Homologous Recombination on Tumorigenesis.

Cancers

Matos-Rodrigues, Gabriel G; Martini, Emmanuelle E; Lopez, Bernard S BS

Publication Date: 2021-04-25

Variant appearance in text: BRCA2: G25R

PubMed Link: 33923105

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications

Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q

Publication Date: 2021-01-04

Variant appearance in text: BRCA2: 73G>A; G25R

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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A computational model for classification of BRCA2 variants using mouse embryonic stem cell-based functional assays.

Npj Genomic Medicine

Biswas, Kajal K; Lipton, Gary B GB; Stauffer, Stacey S; Sullivan, Teresa T; Cleveland, Linda L; Southon, Eileen E; Reid, Susan S; Magidson, Valentin V; Iversen, Edwin S ES; Sharan, Shyam K SK

Publication Date: 2020-12-08

Variant appearance in text: BRCA2: 73G>A; G25R

PubMed Link: 33293522

Variant Present in the following documents:

• Main text
• 41525_2020_Article_158.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: 73G>A; Gly25Arg

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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Variants of uncertain clinical significance in hereditary breast and ovarian cancer genes: best practices in functional analysis for clinical annotation.

Journal Of Medical Genetics

Monteiro, Alvaro N AN; Bouwman, Peter P; Kousholt, Arne N AN; Eccles, Diana M DM; Millot, Gael A GA; Masson, Jean-Yves JY; Schmidt, Marjanka K MK; Sharan, Shyam K SK; Scully, Ralph R; Wiesmüller, Lisa L; Couch, Fergus F; Vreeswijk, Maaike P G MPG

Publication Date: 2020-08

Variant appearance in text: BRCA2: G25R

PubMed Link: 32152249

Variant Present in the following documents:

• Main text

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: 73G>A; Gly25Arg; rs80358961

PubMed Link: 31911673

Variant Present in the following documents:

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

View BVdb publication page

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PALB2 (partner and localizer of BRCA2).

Atlas Of Genetics And Cytogenetics In Oncology And Haematology

Hanenberg, Helmut H; Andreassen, Paul R PR

Publication Date: 2018-04

Variant appearance in text: BRCA2: Gly25Arg

PubMed Link: 31413733

Variant Present in the following documents:

• Main text
• nihms-1029371.pdf

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: 73G>A

PubMed Link: 31131967

Variant Present in the following documents:

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

View BVdb publication page

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Two Missense Variants Detected in Breast Cancer Probands Preventing BRCA2-PALB2 Protein Interaction.

Frontiers In Oncology

Caleca, Laura L; Catucci, Irene I; Figlioli, Gisella G; De Cecco, Loris L; Pesaran, Tina T; Ward, Maggie M; Volorio, Sara S; Falanga, Anna A; Marchetti, Marina M; Iascone, Maria M; Tondini, Carlo C; Zambelli, Alberto A; Azzollini, Jacopo J; Manoukian, Siranoush S; Radice, Paolo P; Peterlongo, Paolo P

Publication Date: 2018

Variant appearance in text: BRCA2: 73G>A; Gly25Arg

PubMed Link: 30410870

Variant Present in the following documents:

• Main text
• fonc-08-00480.pdf

View BVdb publication page

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The functional impact of variants of uncertain significance in BRCA2.

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

Mesman, Romy L S RLS; Calléja, Fabienne M G R FMGR; Hendriks, Giel G; Morolli, Bruno B; Misovic, Branislav B; Devilee, Peter P; van Asperen, Christi J CJ; Vrieling, Harry H; Vreeswijk, Maaike P G MPG

Publication Date: 2019-02

Variant appearance in text: BRCA2: 73G>A; Gly25Arg

PubMed Link: 29988080

Variant Present in the following documents:

• Main text
• 41436_2018_Article_52.pdf

View BVdb publication page

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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: G25R

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

View BVdb publication page

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Evidence of Intertissue Differences in the DNA Damage Response and the Pro-oncogenic Role of NF-κB in Mice with Disengaged BRCA1-PALB2 Interaction.

Cancer Research

Mahdi, Amar Hekmat AH; Huo, Yanying Y; Tan, Yongmei Y; Simhadri, Srilatha S; Vincelli, Gabriele G; Gao, Jie J; Ganesan, Shridar S; Xia, Bing B

Publication Date: 2018-07-15

Variant appearance in text: BRCA2: G25R

PubMed Link: 29739757

Variant Present in the following documents:

• Main text

View BVdb publication page

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Perturbation of PALB2 function by the T413S mutation found in small cell lung cancer.

Wellcome Open Research

Bleuyard, Jean-Yves JY; Butler, Rosie M RM; Esashi, Fumiko F

Publication Date: 2017

Variant appearance in text: BRCA2: G25R

PubMed Link: 29387807

Variant Present in the following documents:

• Main text
• wellcomeopenres-2-14894.pdf

View BVdb publication page

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Compromised BRCA1-PALB2 interaction is associated with breast cancer risk.

Oncogene

Foo, T K TK; Tischkowitz, M M; Simhadri, S S; Boshari, T T; Zayed, N N; Burke, K A KA; Berman, S H SH; Blecua, P P; Riaz, N N; Huo, Y Y; Ding, Y C YC; Neuhausen, S L SL; Weigelt, B B; Reis-Filho, J S JS; Foulkes, W D WD; Xia, B B

Publication Date: 2017-07-20

Variant appearance in text: BRCA2: G25R

PubMed Link: 28319063

Variant Present in the following documents:

• Main text
• nihms848566.pdf

View BVdb publication page

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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: G25R

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s4.xls, sheet 1

View BVdb publication page

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Interaction with PALB2 Is Essential for Maintenance of Genomic Integrity by BRCA2.

Plos Genetics

Hartford, Suzanne A SA; Chittela, Rajanikant R; Ding, Xia X; Vyas, Aradhana A; Martin, Betty B; Burkett, Sandra S; Haines, Diana C DC; Southon, Eileen E; Tessarollo, Lino L; Sharan, Shyam K SK

Publication Date: 2016-08

Variant appearance in text: BRCA2: 73G>A

PubMed Link: 27490902

Variant Present in the following documents:

• Main text
• pgen.1006236.pdf

View BVdb publication page

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Next-generation sequencing of BRCA1 and BRCA2 in breast cancer patients and control subjects.

Molecular And Clinical Oncology

Balabanski, Lubomir L; Antov, Georgi G; Dimova, Ivanka I; Ivanov, Samuil S; Nacheva, Maria M; Gavrilov, Ivan I; Nesheva, Desislava D; Rukova, Blaga B; Hadjidekova, Savina S; Malinov, Maxim M; Toncheva, Draga D

Publication Date: 2014-05

Variant appearance in text: N/A

PubMed Link: 24772314

Variant Present in the following documents:

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: N/A

PubMed Link: 24323938

Variant Present in the following documents:

View BVdb publication page

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Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay.

Human Molecular Genetics

Biswas, Kajal K; Das, Ranabir R; Eggington, Julie M JM; Qiao, Huanyu H; North, Susan L SL; Stauffer, Stacey S; Burkett, Sandra S SS; Martin, Betty K BK; Southon, Eileen E; Sizemore, Scott C SC; Pruss, Dmitry D; Bowles, Karla R KR; Roa, Benjamin B BB; Hunter, Neil N; Tessarollo, Lino L; Wenstrup, Richard J RJ; Byrd, R Andrew RA; Sharan, Shyam K SK

Publication Date: 2012-09-15

Variant appearance in text: BRCA2: 73G>A; Gly25Arg

PubMed Link: 22678057

Variant Present in the following documents:

• Main text

View BVdb publication page

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An entire exon 3 germ-line rearrangement in the BRCA2 gene: pathogenic relevance of exon 3 deletion in breast cancer predisposition.

Bmc Medical Genetics

Muller, Danièle D; Rouleau, Etienne E; Schultz, Inès I; Caputo, Sandrine S; Lefol, Cédrick C; Bièche, Ivan I; Caron, Olivier O; Noguès, Catherine C; Limacher, Jean Marc JM; Demange, Liliane L; Lidereau, Rosette R; Fricker, Jean Pierre JP; Abecassis, Joseph J

Publication Date: 2011-09-22

Variant appearance in text: BRCA2: Gly25Arg

PubMed Link: 21939546

Variant Present in the following documents:

• Main text
• 1471-2350-12-121.pdf

View BVdb publication page

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Structural basis for recruitment of BRCA2 by PALB2.

Embo Reports

Oliver, Antony W AW; Swift, Sally S; Lord, Christopher J CJ; Ashworth, Alan A; Pearl, Laurence H LH

Publication Date: 2009-09

Variant appearance in text: N/A

PubMed Link: 19609323

Variant Present in the following documents:

View BVdb publication page

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: BRCA2: G25R

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File009.xls, sheet 4

View BVdb publication page

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Performance of BRCA1/2 mutation prediction models in Asian Americans.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology

Kurian, Allison W AW; Gong, Gail D GD; Chun, Nicolette M NM; Mills, Meredith A MA; Staton, Ashley D AD; Kingham, Kerry E KE; Crawford, Beth B BB; Lee, Robin R; Chan, Salina S; Donlon, Susan S SS; Ridge, Yolanda Y; Panabaker, Karen K; West, Dee W DW; Whittemore, Alice S AS; Ford, James M JM

Publication Date: 2008-10-10

Variant appearance in text: N/A

PubMed Link: 18779604

Variant Present in the following documents:

View BVdb publication page

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