Publications:

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Genomic profiling of idiopathic peri-hilar cholangiocarcinoma reveals new targets and mutational pathways.

Scientific Reports

Quinn, Leonard M LM; Haldenby, Sam S; Antzcak, Philip P; Fowler, Anna A; Bullock, Katie K; Kenny, John J; Gilbert, Timothy T; Andrews, Timothy T; Diaz-Nieto, Rafael R; Fenwick, Stephen S; Jones, Robert R; Costello-Goldring, Eithne E; Poston, Graeme G; Greenhalf, William W; Palmer, Daniel D; Malik, Hassan H; Goldring, Chris C

Publication Date: 2023-04-24

Variant appearance in text: BRCA2: 8567A>C; Glu2856Ala

PubMed Link: 37095160

Variant Present in the following documents:

• 41598_2023_33096_MOESM2_ESM.pdf

View BVdb publication page

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Circulating Tumor DNA Monitoring Reveals Molecular Progression before Radiologic Progression in a Real-life Cohort of Patients with Advanced Non-small Cell Lung Cancer.

Cancer Research Communications

Frank, Malene S MS; Andersen, Christina S A CSA; Ahlborn, Lise B LB; Pallisgaard, Niels N; Bodtger, Uffe U; Gehl, Julie J

Publication Date: 2022-10

Variant appearance in text: BRCA2: 8567A>C; E2856A

PubMed Link: 36969747

Variant Present in the following documents:

• crc-22-0258-s08.xlsx, sheet 1

View BVdb publication page

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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: 8567A>C; E2856A; rs11571747

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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Whole-genome sequencing of 20 cholangiocarcinoma cases reveals unique profiles in patients with cirrhosis and primary sclerosing cholangitis.

Journal Of Gastrointestinal Oncology

Holzapfel, Nicholas N; Zhang, Amy A; Choi, Woo-Jin WJ; Denroche, Robert R; Jang, Gunho G; Dodd, Anna A; Bucur, Roxana R; Wilson, Julie J; Sapisochin, Gonzalo G; Notta, Faiyaz F; Grant, Robert C RC; Gallinger, Steven S; Knox, Jennifer J JJ; O'Kane, Grainne M GM

Publication Date: 2023-02-28

Variant appearance in text: BRCA2: E2856A; rs11571747

PubMed Link: 36915452

Variant Present in the following documents:

• jgo-14-01-379-supplementary.pdf

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: E2856A; rs11571747

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Molecular characterization of acquired resistance to KRAS G12C-EGFR inhibition in colorectal cancer.

Cancer Discovery

Yaeger, Rona R; Mezzadra, Riccardo R; Sinopoli, Jenna J; Bian, Yu Y; Marasco, Michelangelo M; Kaplun, Esther E; Gao, Yijun Y; Zhao, HuiYong H; Da Cruz Paula, Arnaud A; Zhu, Yingjie Y; Chaves Perez, Almudena A; Chadalavada, Kalyani K; Tse, Edison E; Chowdhry, Sudhir S; Bowker, Sydney S; Chang, Qing Q; Qeriqi, Besnik B; Weigelt, Britta B; Nanjangud, Gouri J GJ; Berger, Michael F MF; Der-Torossian, Hirak H; Anderes, Kenna K; Socci, Nicholas D ND; Shia, Jinru J; Riely, Gregory J GJ; Murciano-Goroff, Yonina R YR; Li, Bob T BT; Christensen, James G JG; Reis-Filho, Jorge S JS; Solit, David B DB; de Stanchina, Elisa E; Lowe, Scott W SW; Rosen, Neal N; Misale, Sandra S

Publication Date: 2022-11-10

Variant appearance in text: BRCA2: E2856A

PubMed Link: 36355783

Variant Present in the following documents:

• cd-22-0405_supplementary_figure_2_suppsf2.pdf

View BVdb publication page

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Computational Biology of BRCA2 in Male Breast Cancer, through Prediction of Probable nsSNPs, and Hit Identification.

Acs Omega

Shinde, Sangita Dattatray SD; Satpute, Dinesh Parshuram DP; Behera, Santosh Kumar SK; Kumar, Dinesh D

Publication Date: 2022-08-30

Variant appearance in text: BRCA2: E2856A; rs11571747

PubMed Link: 36061650

Variant Present in the following documents:

• Main text
• ao2c03851.pdf
• ao2c03851_si_001.pdf

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: E2856A

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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Heterogeneity of germline variants in high risk breast and ovarian cancer susceptibility genes in India.

Precision Clinical Medicine

Sharma-Oates, Archana A; Shaaban, Abeer M AM; Tomlinson, Ian I; Wynne, Luke L; Cazier, Jean-Baptiste JB; Sundar, Sudha S

Publication Date: 2018-09

Variant appearance in text: BRCA2: E2856A

PubMed Link: 35693198

Variant Present in the following documents:

• Main text

View BVdb publication page

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An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance.

Npj Genomic Medicine

Iversen, Edwin S ES; Lipton, Gary G; Hart, Steven N SN; Lee, Kun Y KY; Hu, Chunling C; Polley, Eric C EC; Pesaran, Tina T; Yussuf, Amal A; LaDuca, Holly H; Chao, Elizabeth E; Karam, Rachid R; Goldgar, David E DE; Couch, Fergus J FJ; Monteiro, Alvaro N A ANA

Publication Date: 2022-06-03

Variant appearance in text: BRCA2: E2856A

PubMed Link: 35665744

Variant Present in the following documents:

• 41525_2022_302_MOESM3_ESM.xlsx, sheet 1
• 41525_2022_302_MOESM3_ESM.xlsx, sheet 5

View BVdb publication page

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Human BRCA pathogenic variants were originated during recent human history.

Life Science Alliance

Li, Jiaheng J; Zhao, Bojin B; Huang, Teng T; Qin, Zixin Z; Wang, San Ming SM

Publication Date: 2022-05

Variant appearance in text: BRCA2: 8567A>C; E2856A

PubMed Link: 35165121

Variant Present in the following documents:

• LSA-2021-01263_TableS1.xlsx, sheet 1

View BVdb publication page

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Proteogenomics of non-small cell lung cancer reveals molecular subtypes associated with specific therapeutic targets and immune evasion mechanisms.

Nature Cancer

Lehtiö, Janne J; Arslan, Taner T; Siavelis, Ioannis I; Pan, Yanbo Y; Socciarelli, Fabio F; Berkovska, Olena O; Umer, Husen M HM; Mermelekas, Georgios G; Pirmoradian, Mohammad M; Jönsson, Mats M; Brunnström, Hans H; Brustugun, Odd Terje OT; Purohit, Krishna Pinganksha KP; Cunningham, Richard R; Foroughi Asl, Hassan H; Isaksson, Sofi S; Arbajian, Elsa E; Aine, Mattias M; Karlsson, Anna A; Kotevska, Marija M; Gram Hansen, Carsten C; Drageset Haakensen, Vilde V; Helland, Åslaug Å; Tamborero, David D; Johansson, Henrik J HJ; Branca, Rui M RM; Planck, Maria M; Staaf, Johan J; Orre, Lukas M LM

Publication Date: 2021-11

Variant appearance in text: BRCA2: 8567A>C; Glu2856Ala

PubMed Link: 34870237

Variant Present in the following documents:

• EMS133264-supplement-Supplementary_Tables.xlsx, sheet 9

View BVdb publication page

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Combined multimodal ctDNA analysis and radiological imaging for tumor surveillance in Non-small cell lung cancer.

Translational Oncology

Metzenmacher, Martin M; Hegedüs, Balazs B; Forster, Jan J; Schramm, Alexander A; Horn, Peter A PA; Klein, Christoph A CA; Bielefeld, Nicola N; Ploenes, Till T; Aigner, Clemens C; Theegarten, Dirk D; Schildhaus, Hans-Ulrich HU; Siveke, Jens T JT; Schuler, Martin M; Lueong, Smiths S SS

Publication Date: 2022-01

Variant appearance in text: BRCA2: 8567A>C; Glu2856Ala; rs11571747

PubMed Link: 34800919

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Combined multimodal ctDNA analysis and radiological imaging for tumor surveillance in Non-small cell lung cancer.

Translational Oncology

Metzenmacher, Martin M; Hegedüs, Balazs B; Forster, Jan J; Schramm, Alexander A; Horn, Peter A PA; Klein, Christoph A CA; Bielefeld, Nicola N; Ploenes, Till T; Aigner, Clemens C; Theegarten, Dirk D; Schildhaus, Hans-Ulrich HU; Siveke, Jens T JT; Schuler, Martin M; Lueong, Smiths S SS

Publication Date: 2021-11-17

Variant appearance in text: BRCA2: 8567A>C; Glu2856Ala; rs11571747

PubMed Link: 34800919

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Molecular predictors of response to pembrolizumab in thymic carcinoma.

Cell Reports. Medicine

He, Yongfeng Y; Ramesh, Archana A; Gusev, Yuriy Y; Bhuvaneshwar, Krithika K; Giaccone, Giuseppe G

Publication Date: 2021-09-21

Variant appearance in text: BRCA2: E2856A

PubMed Link: 34622229

Variant Present in the following documents:

• mmc3.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: BRCA2: E2856A; rs11571747

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_MOESM2_ESM.xlsx, sheet 8
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

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Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.

European Journal Of Human Genetics : Ejhg

Wagener, Rabea R; Taeubner, Julia J; Walter, Carolin C; Yasin, Layal L; Alzoubi, Deya D; Bartenhagen, Christoph C; Attarbaschi, Andishe A; Classen, Carl-Friedrich CF; Kontny, Udo U; Hauer, Julia J; Fischer, Ute U; Dugas, Martin M; Kuhlen, Michaela M; Borkhardt, Arndt A; Brozou, Triantafyllia T

Publication Date: 2021-08

Variant appearance in text: BRCA2: 8567A>C; Glu2856Ala; rs11571747

PubMed Link: 33840814

Variant Present in the following documents:

• 41431_2021_878_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.

European Journal Of Human Genetics : Ejhg

Wagener, Rabea R; Taeubner, Julia J; Walter, Carolin C; Yasin, Layal L; Alzoubi, Deya D; Bartenhagen, Christoph C; Attarbaschi, Andishe A; Classen, Carl-Friedrich CF; Kontny, Udo U; Hauer, Julia J; Fischer, Ute U; Dugas, Martin M; Kuhlen, Michaela M; Borkhardt, Arndt A; Brozou, Triantafyllia T

Publication Date: 2021-08

Variant appearance in text: BRCA2: 8567A>C; Glu2856Ala; rs11571747

PubMed Link: 33840814

Variant Present in the following documents:

• 41431_2021_878_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Interpreting Sequence Variation in PDAC-Predisposing Genes Using a Multi-Tier Annotation Approach Performed at the Gene, Patient, and Cohort Level.

Frontiers In Oncology

Zimmermann, Michael T MT; Mathison, Angela J AJ; Stodola, Tim T; Evans, Douglas B DB; Abrudan, Jenica L JL; Demos, Wendy W; Tschannen, Michael M; Aldakkak, Mohammed M; Geurts, Jennifer J; Lomberk, Gwen G; Tsai, Susan S; Urrutia, Raul R

Publication Date: 2021

Variant appearance in text: BRCA2: 8567A>C; Glu2856Ala

PubMed Link: 33747920

Variant Present in the following documents:

• DataSheet_2.xlsx, sheet 8

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: 8567A>C; Glu2856Ala; rs11571747

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

Nature Communications

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

Publication Date: 2021-03-05

Variant appearance in text: BRCA2: E2856A

PubMed Link: 33674603

Variant Present in the following documents:

• 41467_2021_21774_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance.

American Journal Of Human Genetics

Richardson, Marcy E ME; Hu, Chunling C; Lee, Kun Y KY; LaDuca, Holly H; Fulk, Kelly K; Durda, Kate M KM; Deckman, Ashley M AM; Goldgar, David E DE; Monteiro, Alvaro N A ANA; Gnanaolivu, Rohan R; Hart, Steven N SN; Polley, Eric C EC; Chao, Elizabeth E; Pesaran, Tina T; Couch, Fergus J FJ

Publication Date: 2021-03-04

Variant appearance in text: BRCA2: E2856A

PubMed Link: 33609447

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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The Mutational Landscape of Metastatic Castration-sensitive Prostate Cancer: The Spectrum Theory Revisited.

European Urology

Deek, Matthew P MP; Van der Eecken, Kim K; Phillips, Ryan R; Parikh, Neil R NR; Isaacsson Velho, Pedro P; Lotan, Tamara L TL; Kishan, Amar U AU; Maurer, Tobias T; , ; Boutros, Paul C PC; Hovens, Christopher C; Abramowtiz, Matthew M; Pollack, Alan A; Desai, Neil N; Stish, Bradley B; Feng, Felix Y FY; Eisenberger, Mario M; Carducci, Michael M; Pienta, Kenneth J KJ; Markowski, Mark M; Paller, Channing J CJ; Antonarakis, Emmanuel S ES; Berlin, Alejandro A; Ost, Piet P; Tran, Phuoc T PT

Publication Date: 2021-11

Variant appearance in text: BRCA2: E2856A

PubMed Link: 33419682

Variant Present in the following documents:

• NIHMS1793749-supplement-20.xlsx, sheet 1

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: 8567A>C; E2856A

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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Sensitivity and specificity of loss of heterozygosity analysis for the classification of rare germline variants in BRCA1/2: results of the observational AGO-TR1 study (NCT02222883).

Journal Of Medical Genetics

Hauke, Jan J; Harter, Philipp P; Ernst, Corinna C; Burges, Alexander A; Schmidt, Sandra S; Reuss, Alexander A; Borde, Julika J; De Gregorio, Nikolaus N; Dietrich, Dimo D; El-Balat, Ahmed A; Kayali, Mohamad M; Gevensleben, Heidrun H; Hilpert, Felix F; Altmüller, Janine J; Heimbach, André A; Meier, Werner W; Schoemig-Markiefka, Birgid B; Thiele, Holger H; Kimmig, Rainer R; Nürnberg, Peter P; Kast, Karin K; Richters, Lisa L; Sehouli, Jalid J; Schmutzler, Rita K RK; Hahnen, Eric E

Publication Date: 2022-03

Variant appearance in text: BRCA2: 8567A>C; Glu2856Ala

PubMed Link: 33273034

Variant Present in the following documents:

• jmedgenet-2020-107353supp001.pdf

View BVdb publication page

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New Pathogenic Germline Variants in Very Early Onset and Familial Colorectal Cancer Patients.

Frontiers In Genetics

Djursby, Malene M; Madsen, Majbritt B MB; Frederiksen, Jane H JH; Berchtold, Lukas A LA; Therkildsen, Christina C; Willemoe, Gro L GL; Hasselby, Jane P JP; Wikman, Friedrik F; Okkels, Henrik H; Skytte, Anne-Bine AB; Nilbert, Mef M; Wadt, Karin K; Gerdes, Anne-Marie AM; van Overeem Hansen, Thomas T

Publication Date: 2020

Variant appearance in text: BRCA2: 8567A>C; E2856A

PubMed Link: 33193653

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

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: 8567A>C; Glu2856Ala; rs11571747

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: 8567A>C; Glu2856Ala

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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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: 8567A>C; Glu2856Ala; rs11571747

PubMed Link: 31911673

Variant Present in the following documents:

• 41436_2019_740_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Genomics of lethal prostate cancer at diagnosis and castration resistance.

The Journal Of Clinical Investigation

Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS

Publication Date: 2020-04-01

Variant appearance in text: BRCA2: 8567A>C; E2856A; rs11571747

PubMed Link: 31874108

Variant Present in the following documents:

• jci-130-132031-s100.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: 8567A>C; E2856A

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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Evaluation of the contribution of germline variants in BRCA1 and BRCA2 to uveal and cutaneous melanoma.

Melanoma Research

Johansson, Peter A PA; Nathan, Vaishnavi V; Bourke, Lauren M LM; Palmer, Jane M JM; Zhang, Tongwu T; Symmons, Judith J; Howlie, Madeleine M; Patch, Ann-Marie AM; Read, Jazlyn J; Holland, Elizabeth A EA; Schmid, Helen H; Warrier, Sunil S; Glasson, William W; Höiom, Veronica V; Wadt, Karin K; Jönsson, Göran G; Olsson, Håkan H; Ingvar, Christian C; Mann, Graham G; Brown, Kevin M KM; Hayward, Nicholas K NK; Pritchard, Antonia L AL

Publication Date: 2019-10

Variant appearance in text: BRCA2: E2856A; rs11571747

PubMed Link: 31464824

Variant Present in the following documents:

• Main text

View BVdb publication page

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A research-based gene panel to investigate breast, ovarian and prostate cancer genetic risk.

Plos One

Bishop, Madison R MR; Huskey, Anna L W ALW; Hetzel, John J; Merner, Nancy D ND

Publication Date: 2019

Variant appearance in text: BRCA2: 8567A>C; E2856A

PubMed Link: 31415627

Variant Present in the following documents:

• Main text
• pone.0220929.pdf

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: E2856A

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Plos Computational Biology

Brown, Anna-Leigh AL; Li, Minghui M; Goncearenco, Alexander A; Panchenko, Anna R AR

Publication Date: 2019-04

Variant appearance in text: BRCA2: E2856A

PubMed Link: 31034466

Variant Present in the following documents:

• pcbi.1006981.s010.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: E2856A

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: 8567A>C; Glu2856Ala

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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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: 8567A>C; E2856A

PubMed Link: 30212499

Variant Present in the following documents:

• pone.0203553.s008.xlsx, sheet 2

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: 8567A>C; Glu2856Ala

PubMed Link: 29988080

Variant Present in the following documents:

• Main text
• 41436_2018_Article_52.pdf
• 41436_2018_52_MOESM1_ESM.pdf

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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: E2856A

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

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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: E2856A

PubMed Link: 29580235

Variant Present in the following documents:

• 12920_2018_353_MOESM1_ESM.xlsx, sheet 1

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Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosity.

Cold Spring Harbor Molecular Case Studies

Suarez-Kelly, Lorena P LP; Akagi, Keiko K; Reeser, Julie W JW; Samorodnitsky, Eric E; Reeder, Matthew M; Smith, Amy A; Roychowdhury, Sameek S; Symer, David E DE; Carson, William E WE

Publication Date: 2018-04

Variant appearance in text: BRCA2: 8567A>C; Glu2856Ala; rs11571747

PubMed Link: 29449315

Variant Present in the following documents:

• Main text
• supp_mcs.a002352_Supplemental_Table_3.xls, sheet 1
• MCS002352Sua.pdf

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Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches.

American Journal Of Human Genetics

Guidugli, Lucia L; Shimelis, Hermela H; Masica, David L DL; Pankratz, Vernon S VS; Lipton, Gary B GB; Singh, Namit N; Hu, Chunling C; Monteiro, Alvaro N A ANA; Lindor, Noralane M NM; Goldgar, David E DE; Karchin, Rachel R; Iversen, Edwin S ES; Couch, Fergus J FJ

Publication Date: 2018-02-01

Variant appearance in text: BRCA2: 8567A>C; Glu2856Ala

PubMed Link: 29394989

Variant Present in the following documents:

• Main text

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Reanalysis of BRCA1/2 negative high risk ovarian cancer patients reveals novel germline risk loci and insights into missing heritability.

Plos One

Stafford, Jaime L JL; Dyson, Gregory G; Levin, Nancy K NK; Chaudhry, Sophia S; Rosati, Rita R; Kalpage, Hasini H; Wernette, Courtney C; Petrucelli, Nancie N; Simon, Michael S MS; Tainsky, Michael A MA

Publication Date: 2017

Variant appearance in text: BRCA2: 8567A>C; rs11571747

PubMed Link: 28591191

Variant Present in the following documents:

• Main text
• pone.0178450.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: 8567A>C; Glu2856Ala

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records.

Plos One

He, Karen Y KY; Zhao, Yiqing Y; McPherson, Elizabeth W EW; Li, Quan Q; Xia, Fan F; Weng, Chunhua C; Wang, Kai K; He, Max M MM

Publication Date: 2016

Variant appearance in text: BRCA2: E2856A; rs11571747

PubMed Link: 27930734

Variant Present in the following documents:

• pone.0167847.s002.xls, 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: 8567A>C

PubMed Link: 27767231

Variant Present in the following documents:

• HUMU-38-226-s002.xlsx, sheet 3

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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: E2856A

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s4.xls, sheet 1

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Screening for germline BRCA1, BRCA2, TP53 and CHEK2 mutations in families at-risk for hereditary breast cancer identified in a population-based study from Southern Brazil.

Genetics And Molecular Biology

Palmero, Edenir Inêz EI; Alemar, Bárbara B; Schüler-Faccini, Lavínia L; Hainaut, Pierre P; Moreira-Filho, Carlos Alberto CA; Ewald, Ingrid Petroni IP; Santos, Patricia Koehler Dos PK; Ribeiro, Patricia Lisbôa Izetti PL; Oliveira, Cristina Brinkmann de Netto CB; Calvez-Kelm, Florence Le FL; Tavtigian, Sean S; Cossio, Silvia Liliana SL; Giugliani, Roberto R; Caleffi, Maira M; Ashton-Prolla, Patricia P

Publication Date: 2016-05-24

Variant appearance in text: BRCA2: E2856A

PubMed Link: 27223485

Variant Present in the following documents:

• Main text
• 1415-4757-gmb-1678-4685-GMB-2014-0363.pdf

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A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer.

Bmc Medical Genomics

Mucaki, Eliseos J EJ; Caminsky, Natasha G NG; Perri, Ami M AM; Lu, Ruipeng R; Laederach, Alain A; Halvorsen, Matthew M; Knoll, Joan H M JH; Rogan, Peter K PK

Publication Date: 2016-04-11

Variant appearance in text: BRCA2: 8567A>C; Glu2856Ala; rs11571747

PubMed Link: 27067391

Variant Present in the following documents:

• 12920_2016_178_MOESM14_ESM.xlsx, sheet 1
• 12920_2016_178_MOESM12_ESM.xlsx, sheet 1

View BVdb publication page

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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: rs11571747

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing.

Bmc Medical Genomics

Kluska, Anna A; Balabas, Aneta A; Paziewska, Agnieszka A; Kulecka, Maria M; Nowakowska, Dorota D; Mikula, Michal M; Ostrowski, Jerzy J

Publication Date: 2015-05-07

Variant appearance in text: rs11571747

PubMed Link: 25948282

Variant Present in the following documents:

• 12920_2015_92_MOESM1_ESM.xlsx, sheet 1

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: E2856A

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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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: rs11571747

PubMed Link: 24504028

Variant Present in the following documents:

• srep04026-s1.pdf

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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: BRCA2: E2856A

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-9.xlsx, sheet 1

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: 8567A>C

PubMed Link: 24323938

Variant Present in the following documents:

• Main text

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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: rs11571747

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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A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity.

Cancer Research

Guidugli, Lucia L; Pankratz, Vernon S VS; Singh, Namit N; Thompson, James J; Erding, Catherine A CA; Engel, Christoph C; Schmutzler, Rita R; Domchek, Susan S; Nathanson, Katherine K; Radice, Paolo P; Singer, Christian C; Tonin, Patricia N PN; Lindor, Noralane M NM; Goldgar, David E DE; Couch, Fergus J FJ

Publication Date: 2013-01-01

Variant appearance in text: BRCA2: E2856A

PubMed Link: 23108138

Variant Present in the following documents:

• Main text

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BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma.

Cancer

Pennington, Kathryn P KP; Walsh, Tom T; Lee, Ming M; Pennil, Christopher C; Novetsky, Akiva P AP; Agnew, Kathy J KJ; Thornton, Anne A; Garcia, Rochelle R; Mutch, David D; King, Mary-Claire MC; Goodfellow, Paul P; Swisher, Elizabeth M EM

Publication Date: 2013-01-15

Variant appearance in text: BRCA2: E2856A

PubMed Link: 22811390

Variant Present in the following documents:

• Main text

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A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

Human Mutation

Lindor, Noralane M NM; Guidugli, Lucia L; Wang, Xianshu X; Vallée, Maxime P MP; Monteiro, Alvaro N A AN; Tavtigian, Sean S; Goldgar, David E DE; Couch, Fergus J FJ

Publication Date: 2012-01

Variant appearance in text: BRCA2: 8567A>C; E2856A

PubMed Link: 21990134

Variant Present in the following documents:

• Main text

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Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study.

European Journal Of Human Genetics : Ejhg

Caux-Moncoutier, Virginie V; Pagès-Berhouet, Sabine S; Michaux, Dorothée D; Asselain, Bernard B; Castéra, Laurent L; De Pauw, Antoine A; Buecher, Bruno B; Gauthier-Villars, Marion M; Stoppa-Lyonnet, Dominique D; Houdayer, Claude C

Publication Date: 2009-11

Variant appearance in text: BRCA2: 8567A>C; Glu2856Ala

PubMed Link: 19471317

Variant Present in the following documents:

• Main text

View BVdb publication page

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Classifying Variants of Undetermined Significance in BRCA2 with protein likelihood ratios.

Cancer Informatics

Karchin, Rachel R; Agarwal, Mukesh M; Sali, Andrej A; Couch, Fergus F; Beattie, Mary S MS

Publication Date: 2008

Variant appearance in text: BRCA2: E2856A

PubMed Link: 19043619

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinically applicable models to characterize BRCA1 and BRCA2 variants of uncertain significance.

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

Spearman, Andrew D AD; Sweet, Kevin K; Zhou, Xiao-Ping XP; McLennan, Jane J; Couch, Fergus J FJ; Toland, Amanda Ewart AE

Publication Date: 2008-11-20

Variant appearance in text: BRCA2: E2856A

PubMed Link: 18824701

Variant Present in the following documents:

• Main text

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Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2.

Nature Medicine

Kuznetsov, Sergey G SG; Liu, Pentao P; Sharan, Shyam K SK

Publication Date: 2008-08

Variant appearance in text: BRCA2: E2856A

PubMed Link: 18607349

Variant Present in the following documents:

• Main text

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BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expression.

Plos Genetics

Waddell, Nic N; Ten Haaf, Anette A; Marsh, Anna A; Johnson, Julie J; Walker, Logan C LC; , ; Gongora, Milena M; Brown, Melissa M; Grover, Piyush P; Girolami, Mark M; Grimmond, Sean S; Chenevix-Trench, Georgia G; Spurdle, Amanda B AB

Publication Date: 2008-05-23

Variant appearance in text: BRCA2: E2856A

PubMed Link: 18497862

Variant Present in the following documents:

• Main text
• pgen.1000080.pdf

View BVdb publication page

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