Publications:

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BRCA germline mutations in multiethnic gynecologic patients: A 10-year retrospective analysis from a single cancer institute.

Plos One

Wei, Christina H CH; Shehayeb, Susan S; Santiago, Nicole Lugo NL; Kruper, Laura L; Han, Ernest E; Wang, Edward E; Cristea, Mihaela M; Rodriguez-Rodriguez, Lorna L; Yost, Susan E SE; Stewart, Daphne D

Publication Date: 2023

Variant appearance in text: BRCA1: 5080G>T

PubMed Link: 37310942

Variant Present in the following documents:

• pone.0286998.s001.pdf

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: BRCA1: 5080G>T; E1694*; rs80356896

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.

Medrxiv : The Preprint Server For Health Sciences

Walker, Logan C LC; de la Hoya, Miguel M; Wiggins, George Ar GA; Lindy, Amanda A; Vincent, Lisa M LM; Parsons, Michael M; Canson, Daffodil M DM; Bis-Brewer, Dana D; Cass, Ashley A; Tchourbanov, Alexander A; Zimmermann, Heather H; Byrne, Alicia B AB; Pesaran, Tina T; Karam, Rachid R; Harrison, Steven M SM; , ; Spurdle, Amanda B AB

Publication Date: 2023-02-26

Variant appearance in text: BRCA1: 5080G>T

PubMed Link: 36865205

Variant Present in the following documents:

• media-10.xlsx, sheet 1

View BVdb publication page

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

Nature Genetics

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

Publication Date: 2023-02-23

Variant appearance in text: BRCA1: 5080G>T; Glu1694Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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

Plos One

Rao, Nandana D ND; Shirts, Brian H BH

Publication Date: 2023

Variant appearance in text: BRCA1: 5080G>T

PubMed Link: 36753473

Variant Present in the following documents:

• pone.0278010.s002.xlsx, sheet 1

View BVdb publication page

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Occurrence of variants of unknown clinical significance in genetic testing for hereditary breast and ovarian cancer syndrome and Lynch syndrome: a literature review and analytical observational retrospective cohort study.

Bmc Medical Genomics

Adam, Felicia F; Fluri, Muriel M; Scherz, Amina A; Rabaglio, Manuela M

Publication Date: 2023-01-16

Variant appearance in text: BRCA1: 5080G>T

PubMed Link: 36647026

Variant Present in the following documents:

• 12920_2023_1437_MOESM3_ESM.xlsx, sheet 1
• 12920_2023_1437_MOESM2_ESM.xlsx, sheet 1
• 12920_2023_1437_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Validation and Clinical Application of ONCOaccuPanel for Targeted Next-Generation Sequencing of Solid Tumors.

Cancer Research And Treatment

Kim, Moonsik M; Lee, Changseon C; Hong, Juyeon J; Kim, Juhee J; Jeong, Ji Yun JY; Park, Nora Jee-Young NJ; Kim, Ji-Eun JE; Park, Ji Young JY

Publication Date: 2022-11-25

Variant appearance in text: BRCA1: E1694*

PubMed Link: 36470260

Variant Present in the following documents:

• crt-2022-891-Supplementary-Table-2.pdf

View BVdb publication page

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Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.

International Journal Of Cancer

Qin, Zixin Z; Li, Jiaheng J; Tam, Benjamin B; Sinha, Siddharth S; Zhao, Bojin B; Bhaskaran, Shanmuga Priya SP; Huang, Teng T; Wu, Xiaobing X; Chian, Jia Sheng JS; Guo, Maoni M; Kou, Si Hoi SH; Lei, Huijun H; Zhang, Li L; Wang, Xiaoyu X; Lagniton, Philip Naderev P PNP; Xiao, Fengxia F; Jiang, Xinyang X; Wang, San Ming SM

Publication Date: 2022-11-17

Variant appearance in text: BRCA1: 5080G>T; Glu1694*; rs80356896

PubMed Link: 36385461

Variant Present in the following documents:

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

View BVdb publication page

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

Communications Biology

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

Publication Date: 2022-10-06

Variant appearance in text: BRCA1: 5080G>T

PubMed Link: 36203093

Variant Present in the following documents:

• 42003_2022_3978_MOESM4_ESM.xlsx, sheet 14

View BVdb publication page

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Effect of BRCA1/2 Mutational Status on Survival Outcomes According to Secondary Cytoreductive Surgery and Maintenance Therapy in Platinum-Sensitive Relapsed Ovarian Cancer: A Real-World Evidence Study.

Cancer Research And Treatment

Kim, Se Ik SI; Lim, Hyunji H; Kim, Hee Seung HS; Chung, Hyun Hoon HH; Kim, Jae-Weon JW; Park, Noh Hyun NH; Song, Yong-Sang YS; Lee, Maria M

Publication Date: 2022-07-19

Variant appearance in text: BRCA1: 5080G>T; Glu1694Ter

PubMed Link: 35879854

Variant Present in the following documents:

• crt-2022-232-S1-Table.pdf

View BVdb publication page

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Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Life Science Alliance

Qin, Zixin Z; Huang, Teng T; Guo, Maoni M; Wang, San Ming SM

Publication Date: 2022-09

Variant appearance in text: BRCA1: 5080G>T; Glu1694Ter; rs80356896

PubMed Link: 35595529

Variant Present in the following documents:

• LSA-2021-01319_TableS1.xlsx, sheet 1
• LSA-2021-01319_TableS3.xlsx, sheet 1
• LSA-2021-01319_TableS5.xlsx, sheet 1

View BVdb publication page

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Feasibility of targeted cascade genetic testing in the family members of BRCA1/2 gene pathogenic variant/likely pathogenic variant carriers.

Scientific Reports

Lee, Jeeyeon J; Ham, Ji Yeon JY; Park, Ho Yong HY; Jung, Jin Hyang JH; Kim, Wan Wook WW; Kang, Byeongju B; Chae, Yee Soo YS; Lee, Soo Jung SJ; Lee, In Hee IH; Lee, Nan Young NY

Publication Date: 2022-02-03

Variant appearance in text: BRCA1: 5080G>T; Glu1694*

PubMed Link: 35115620

Variant Present in the following documents:

• Main text
• 41598_2022_Article_5931.pdf

View BVdb publication page

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Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update.

European Journal Of Human Genetics : Ejhg

McGuigan, Anthony A; Whitworth, James J; Andreou, Avgi A; Hearn, Timothy T; , ; Tischkowitz, Marc M; Maher, Eamonn R ER

Publication Date: 2022-03

Variant appearance in text: BRCA1: E1694X

PubMed Link: 34983940

Variant Present in the following documents:

• 41431_2021_1013_MOESM1_ESM.pdf

View BVdb publication page

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Germline breast cancer susceptibility genes, tumor characteristics, and survival.

Genome Medicine

Ho, Peh Joo PJ; Khng, Alexis J AJ; Loh, Hui Wen HW; Ho, Weang-Kee WK; Yip, Cheng Har CH; Mohd-Taib, Nur Aishah NA; Tan, Veronique Kiak Mien VKM; Tan, Benita Kiat-Tee BK; Tan, Su-Ming SM; Tan, Ern Yu EY; Lim, Swee Ho SH; Jamaris, Suniza S; Sim, Yirong Y; Wong, Fuh Yong FY; Ngeow, Joanne J; Lim, Elaine Hsuen EH; Tai, Mei Chee MC; Wijaya, Eldarina Azfar EA; Lee, Soo Chin SC; Chan, Ching Wan CW; Buhari, Shaik Ahmad SA; Chan, Patrick M Y PMY; Chen, Juliana J C JJC; Seah, Jaime Chin Mui JCM; Lee, Wai Peng WP; Mok, Chi Wei CW; Lim, Geok Hoon GH; Woo, Evan E; Kim, Sung-Won SW; Lee, Jong Won JW; Lee, Min Hyuk MH; Park, Sue K SK; Dunning, Alison M AM; Easton, Douglas F DF; Schmidt, Marjanka K MK; Teo, Soo-Hwang SH; Li, Jingmei J; Hartman, Mikael M

Publication Date: 2021-12-02

Variant appearance in text: BRCA1: 5080G>T; Glu1694Ter

PubMed Link: 34857041

Variant Present in the following documents:

• 13073_2021_978_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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The Importance of Extended Analysis Using Current Molecular Genetic Methods Based on the Example of a Cohort of 228 Patients with Hereditary Breast and Ovarian Cancer Syndrome.

Genes

Resch, Luise D LD; Hotz, Alrun A; Zimmer, Andreas D AD; Komlosi, Katalin K; Singh, Nina N; Tzschach, Andreas A; Windfuhr-Blum, Marisa M; Juhasz-Boess, Ingolf I; Erbes, Thalia T; Fischer, Judith J; Alter, Svenja S

Publication Date: 2021-09-24

Variant appearance in text: BRCA1: 5080G>T; Glu1694*

PubMed Link: 34680878

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prevalence and clinical characterization of BRCA1 and BRCA2 mutations in Korean patients with epithelial ovarian cancer.

Cancer Science

Paik, E Sun ES; Heo, Eun Jin EJ; Choi, Chel Hun CH; Kim, Jae-Hoon JH; Kim, Jae-Weon JW; Kim, Yong-Man YM; Park, Sang-Yoon SY; Lee, Jeong-Won JW; Kim, Jong-Won JW; Kim, Byoung-Gie BG

Publication Date: 2021-12

Variant appearance in text: BRCA1: 5080G>T; E1694X

PubMed Link: 34657357

Variant Present in the following documents:

• Main text
• CAS-112-5055.pdf

View BVdb publication page

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Prevalence and clinical characterization of BRCA1 and BRCA2 mutations in Korean patients with epithelial ovarian cancer.

Cancer Science

Paik, E Sun ES; Heo, Eun Jin EJ; Choi, Chel Hun CH; Kim, Jae-Hoon JH; Kim, Jae-Weon JW; Kim, Yong-Man YM; Park, Sang-Yoon SY; Lee, Jeong-Won JW; Kim, Jong-Won JW; Kim, Byoung-Gie BG

Publication Date: 2021-12

Variant appearance in text: BRCA1: 5080G>T; E1694X

PubMed Link: 34657357

Variant Present in the following documents:

• Main text
• CAS-112-5055.pdf

View BVdb publication page

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Clinicopathological Characterization of Double Heterozygosity for BRCA1 and BRCA2 Variants in Korean Breast Cancer Patients.

Cancer Research And Treatment

Bang, Yoon Ju YJ; Kwon, Won Kyung WK; Nam, Seok Jin SJ; Kim, Seok Won SW; Chae, Byung-Joo BJ; Lee, Se Kyung SK; Ryu, Jai Min JM; Kim, Jong-Won JW; Yu, Jonghan J; Lee, Jeong Eon JE

Publication Date: 2022-07

Variant appearance in text: BRCA1: 5080G>T

PubMed Link: 34645131

Variant Present in the following documents:

• crt-2021-791.pdf
• crt-2021-791_S2_Table.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: BRCA1: 5080G>T; Glu1694Ter; rs80356896

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

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Five Italian Families with Two Mutations in BRCA Genes.

Genes

Vietri, Maria Teresa MT; Caliendo, Gemma G; D'Elia, Giovanna G; Resse, Marianna M; Casamassimi, Amelia A; Minucci, Pellegrino Biagio PB; Dello Ioio, Concetta C; Cioffi, Michele M; Molinari, Anna Maria AM

Publication Date: 2020-12-03

Variant appearance in text: BRCA1: 5080G>T; Glu1694Ter

PubMed Link: 33287145

Variant Present in the following documents:

• Main text
• genes-11-01451.pdf

View BVdb publication page

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Reclassification of BRCA1 and BRCA2 variants found in ovarian epithelial, fallopian tube, and primary peritoneal cancers.

Journal Of Gynecologic Oncology

Ha, Hyeong In HI; Ryu, Jin Sun JS; Shim, Hyoeun H; Kong, Sun Young SY; Lim, Myong Cheol MC

Publication Date: 2020-11

Variant appearance in text: BRCA1: 5080G>T

PubMed Link: 33078592

Variant Present in the following documents:

• jgo-31-e83-s009.xls, sheet 1
• jgo-31-e83-s007.xls, sheet 1
• jgo-31-e83-s008.xls, sheet 1

View BVdb publication page

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Retrospective review of outcomes in patients with DNA-damage repair related pancreatic cancer.

Hereditary Cancer In Clinical Practice

Macklin-Mantia, Sarah K SK; Hines, Stephanie L SL; Kasi, Pashtoon M PM

Publication Date: 2020

Variant appearance in text: BRCA1: 5080G>T

PubMed Link: 32793315

Variant Present in the following documents:

• 13053_2020_Article_148.pdf

View BVdb publication page

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Clinical Characteristics of Korean Breast Cancer Patients Who Carry Pathogenic Germline Mutations in Both BRCA1 and BRCA2: A Single-Center Experience.

Cancers

Hur, Joon Young JY; Kim, Ji-Yeon JY; Ahn, Jin Seok JS; Im, Young-Hyuck YH; Lee, Jiyun J; Kwon, Minsuk M; Park, Yeon Hee YH

Publication Date: 2020-05-21

Variant appearance in text: BRCA1: 5080G>T; Glu1694Ter

PubMed Link: 32455662

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML.

Npj Breast Cancer

Hart, Steven N SN; Polley, Eric C EC; Shimelis, Hermella H; Yadav, Siddhartha S; Couch, Fergus J FJ

Publication Date: 2020

Variant appearance in text: BRCA1: 5080G>T; Glu1694X

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 outcome of breast cancer in carriers of BRCA1 and BRCA2 mutations according to molecular subtypes.

Scientific Reports

De Talhouet, Solene S; Peron, Julien J; Vuilleumier, Aurelie A; Friedlaender, Alex A; Viassolo, Valeria V; Ayme, Aurélie A; Bodmer, Alexandre A; Treilleux, Isabelle I; Lang, Noemie N; Tille, Jean- Christophe JC; Chappuis, Pierre O PO; Buisson, Adrien A; Giraud, Sophie S; Lasset, Christine C; Bonadona, Valerie V; Trédan, Olivier O; Labidi-Galy, S Intidhar SI

Publication Date: 2020-04-27

Variant appearance in text: BRCA1: 5080G>T

PubMed Link: 32341426

Variant Present in the following documents:

• 41598_2020_63759_MOESM1_ESM.pdf

View BVdb publication page

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OncoOmics approaches to reveal essential genes in breast cancer: a panoramic view from pathogenesis to precision medicine.

Scientific Reports

López-Cortés, Andrés A; Paz-Y-Miño, César C; Guerrero, Santiago S; Cabrera-Andrade, Alejandro A; Barigye, Stephen J SJ; Munteanu, Cristian R CR; González-Díaz, Humberto H; Pazos, Alejandro A; Pérez-Castillo, Yunierkis Y; Tejera, Eduardo E

Publication Date: 2020-03-24

Variant appearance in text: BRCA1: E1694*

PubMed Link: 32210335

Variant Present in the following documents:

• 41598_2020_62279_MOESM2_ESM.xlsx, sheet 33

View BVdb publication page

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Detection of Germline Mutations in Breast Cancer Patients with Clinical Features of Hereditary Cancer Syndrome Using a Multi-Gene Panel Test.

Cancer Research And Treatment

Shin, Hee-Chul HC; Lee, Han-Byoel HB; Yoo, Tae-Kyung TK; Lee, Eun-Shin ES; Kim, Ryong Nam RN; Park, Boyoung B; Yoon, Kyong-Ah KA; Park, Charny C; Lee, Eun Sook ES; Moon, Hyeong-Gon HG; Noh, Dong-Young DY; Kong, Sun-Young SY; Han, Wonshik W

Publication Date: 2020-07

Variant appearance in text: BRCA1: 5080G>T; Glu1694*

PubMed Link: 32019277

Variant Present in the following documents:

• Main text
• crt-2019-559.pdf

View BVdb publication page

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An optimized BRCA1/2 next-generation sequencing for different clinical sample types.

Journal Of Gynecologic Oncology

Kim, Yoonjung Y; Cho, Chi Heum CH; Ha, Jung Sook JS; Kim, Do Hoon DH; Kwon, Sun Young SY; Oh, Seoung Chul SC; Lee, Kyung A KA

Publication Date: 2020-01

Variant appearance in text: BRCA1: 5080G>T

PubMed Link: 31788999

Variant Present in the following documents:

• Main text
• jgo-31-e9.pdf

View BVdb publication page

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Efficient identification of neoantigen-specific T-cell responses in advanced human ovarian cancer.

Journal For Immunotherapy Of Cancer

Liu, Song S; Matsuzaki, Junko J; Wei, Lei L; Tsuji, Takemasa T; Battaglia, Sebastiano S; Hu, Qiang Q; Cortes, Eduardo E; Wong, Laiping L; Yan, Li L; Long, Mark M; Miliotto, Anthony A; Bateman, Nicholas W NW; Lele, Shashikant B SB; Chodon, Thinle T; Koya, Richard C RC; Yao, Song S; Zhu, Qianqian Q; Conrads, Thomas P TP; Wang, Jianmin J; Maxwell, George L GL; Lugade, Amit A AA; Odunsi, Kunle K

Publication Date: 2019-06-20

Variant appearance in text: BRCA1: E1694*

PubMed Link: 31221207

Variant Present in the following documents:

• 40425_2019_629_MOESM13_ESM.xlsx, sheet 1

View BVdb publication page

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BRCA1-No Matter How You Splice It.

Cancer Research

Li, Dan D; Harlan-Williams, Lisa M LM; Kumaraswamy, Easwari E; Jensen, Roy A RA

Publication Date: 2019-05-01

Variant appearance in text: BRCA1: E1694X

PubMed Link: 30992324

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical and Genetic Characteristics of BRCA1/2 Mutation in Korean Ovarian Cancer Patients: A Multicenter Study and Literature Review.

Cancer Research And Treatment

Kwon, Byung Su BS; Byun, Jung Mi JM; Lee, Hyun Joo HJ; Jeong, Dae Hoon DH; Lee, Tae Hwa TH; Shin, Kyung-Hwa KH; Suh, Dong Soo DS; Kim, Ki Hyung KH

Publication Date: 2019-07

Variant appearance in text: BRCA1: 5080G>T

PubMed Link: 30309222

Variant Present in the following documents:

• Main text

View BVdb publication page

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Accurate classification of BRCA1 variants with saturation genome editing.

Nature

Findlay, Gregory M GM; Daza, Riza M RM; Martin, Beth B; Zhang, Melissa D MD; Leith, Anh P AP; Gasperini, Molly M; Janizek, Joseph D JD; Huang, Xingfan X; Starita, Lea M LM; Shendure, Jay J

Publication Date: 2018-10

Variant appearance in text: BRCA1: 5080G>T; E1694*

PubMed Link: 30209399

Variant Present in the following documents:

• NIHMS1501643-supplement-2.xlsx, sheet 1

View BVdb publication page

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BRCA1/2 mutations, including large genomic rearrangements, among unselected ovarian cancer patients in Korea.

Journal Of Gynecologic Oncology

Kim, Do Hoon DH; Cho, Chi Heum CH; Kwon, Sun Young SY; Ryoo, Nam Hee NH; Jeon, Dong Seok DS; Lee, Wonmok W; Ha, Jung Sook JS

Publication Date: 2018-11

Variant appearance in text: BRCA1: 5080G>T; Glu1694Ter; rs80356896

PubMed Link: 30207098

Variant Present in the following documents:

• Main text
• jgo-29-e90.pdf

View BVdb publication page

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Multi-omics profiling of younger Asian breast cancers reveals distinctive molecular signatures.

Nature Communications

Kan, Zhengyan Z; Ding, Ying Y; Kim, Jinho J; Jung, Hae Hyun HH; Chung, Woosung W; Lal, Samir S; Cho, Soonweng S; Fernandez-Banet, Julio J; Lee, Se Kyung SK; Kim, Seok Won SW; Lee, Jeong Eon JE; Choi, Yoon-La YL; Deng, Shibing S; Kim, Ji-Yeon JY; Ahn, Jin Seok JS; Sha, Ying Y; Mu, Xinmeng Jasmine XJ; Nam, Jae-Yong JY; Im, Young-Hyuck YH; Lee, Soohyeon S; Park, Woong-Yang WY; Nam, Seok Jin SJ; Park, Yeon Hee YH

Publication Date: 2018-04-30

Variant appearance in text: rs80356896

PubMed Link: 29713003

Variant Present in the following documents:

• 41467_2018_4129_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Double Heterozygosity for BRCA1 Pathogenic Variant and BRCA2 Polymorphic Stop Codon K3326X: A Case Report in a Southern Italian Family.

International Journal Of Molecular Sciences

Palmirotta, Raffaele R; Lovero, Domenica D; Stucci, Luigia Stefania LS; Silvestris, Erica E; Quaresmini, Davide D; Cardascia, Angela A; Silvestris, Franco F

Publication Date: 2018-01-18

Variant appearance in text: BRCA1: 5080G>T

PubMed Link: 29346284

Variant Present in the following documents:

• Main text
• ijms-19-00285.pdf

View BVdb publication page

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

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

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

Publication Date: 2017-10

Variant appearance in text: BRCA1: 5080G>T; Glu1694Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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ARID1B alterations identify aggressive tumors in neuroblastoma.

Oncotarget

Lee, Soo Hyun SH; Kim, Jung-Sun JS; Zheng, Siyuan S; Huse, Jason T JT; Bae, Joon Seol JS; Lee, Ji Won JW; Yoo, Keon Hee KH; Koo, Hong Hoe HH; Kyung, Sungkyu S; Park, Woong-Yang WY; Sung, Ki W KW

Publication Date: 2017-07-11

Variant appearance in text: rs80356896

PubMed Link: 28521285

Variant Present in the following documents:

• oncotarget-08-45943-s002.xlsx, sheet 2

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Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers.

European Journal Of Human Genetics : Ejhg

Walker, Logan C LC; Marquart, Louise L; Pearson, John F JF; Wiggins, George A R GA; O'Mara, Tracy A TA; Parsons, Michael T MT; , ; Barrowdale, Daniel D; McGuffog, Lesley L; Dennis, Joe J; Benitez, Javier J; Slavin, Thomas P TP; Radice, Paolo P; Frost, Debra D; , ; Godwin, Andrew K AK; Meindl, Alfons A; Schmutzler, Rita Katharina RK; , ; Isaacs, Claudine C; Peshkin, Beth N BN; Caldes, Trinidad T; Hogervorst, Frans Bl FB; , ; Lazaro, Conxi C; Jakubowska, Anna A; Montagna, Marco M; , ; Chen, Xiaoqing X; Offit, Kenneth K; Hulick, Peter J PJ; Andrulis, Irene L IL; Lindblom, Annika A; Nussbaum, Robert L RL; Nathanson, Katherine L KL; Chenevix-Trench, Georgia G; Antoniou, Antonis C AC; Couch, Fergus J FJ; Spurdle, Amanda B AB

Publication Date: 2017-04

Variant appearance in text: BRCA1: 5080G>T

PubMed Link: 28145423

Variant Present in the following documents:

• ejhg2016203x2.xls, sheet 1

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Identification of a Novel BRCA1 Pathogenic Mutation in Korean Patients Following Reclassification of BRCA1 and BRCA2 Variants According to the ACMG Standards and Guidelines Using Relevant Ethnic Controls.

Cancer Research And Treatment

Park, Ji Soo JS; Nam, Eun Ji EJ; Park, Hyung Seok HS; Han, Jung Woo JW; Lee, Jung-Yun JY; Kim, Jieun J; Kim, Tae Il TI; Lee, Seung-Tae ST

Publication Date: 2017-10

Variant appearance in text: BRCA1: E1694*

PubMed Link: 28111427

Variant Present in the following documents:

• crt-2016-433.pdf
• crt-2016-433-supple1.xlsx, sheet 1

View BVdb publication page

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Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants.

Human Mutation

Vallée, Maxime P MP; Di Sera, Tonya L TL; Nix, David A DA; Paquette, Andrew M AM; Parsons, Michael T MT; Bell, Russel R; Hoffman, Andrea A; Hogervorst, Frans B L FB; Goldgar, David E DE; Spurdle, Amanda B AB; Tavtigian, Sean V SV

Publication Date: 2016-07

Variant appearance in text: BRCA1: 5080G>T; E1694*

PubMed Link: 26913838

Variant Present in the following documents:

• HUMU-37-627-s001.xlsx, sheet 1
• HUMU-37-627-s002.xlsx, sheet 1

View BVdb publication page

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Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries.

Journal Of Medical Genetics

Kwong, Ava A; Shin, Vivian Y VY; Ho, John C W JC; Kang, Eunyoung E; Nakamura, Seigo S; Teo, Soo-Hwang SH; Lee, Ann S G AS; Sng, Jen-Hwei JH; Ginsburg, Ophira M OM; Kurian, Allison W AW; Weitzel, Jeffrey N JN; Siu, Man-Ting MT; Law, Fian B F FB; Chan, Tsun-Leung TL; Narod, Steven A SA; Ford, James M JM; Ma, Edmond S K ES; Kim, Sung-Won SW

Publication Date: 2016-01

Variant appearance in text: BRCA1: 5080G>T

PubMed Link: 26187060

Variant Present in the following documents:

• Main text

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A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.

Biomed Research International

Karami, Fatemeh F; Mehdipour, Parvin P

Publication Date: 2013

Variant appearance in text: BRCA1: 5080G>T

PubMed Link: 24312913

Variant Present in the following documents:

• Main text
• BMRI2013-928562.pdf

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Hereditary breast cancer in the Han Chinese population.

Journal Of Epidemiology

Cao, Wenming W; Wang, Xiaojia X; Li, Ji-Cheng JC

Publication Date: 2013

Variant appearance in text: BRCA1: E1694X

PubMed Link: 23318652

Variant Present in the following documents:

• je-23-075-s001.pdf

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Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes.

Breast Cancer Research : Bcr

Acedo, Alberto A; Sanz, David J DJ; Durán, Mercedes M; Infante, Mar M; Pérez-Cabornero, Lucía L; Miner, Cristina C; Velasco, Eladio A EA

Publication Date: 2012-05-25

Variant appearance in text: BRCA1: 5080G>T

PubMed Link: 22632462

Variant Present in the following documents:

• Main text
• bcr3202.pdf

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Tetracyclines that promote SMN2 exon 7 splicing as therapeutics for spinal muscular atrophy.

Science Translational Medicine

Hastings, Michelle L ML; Berniac, Joel J; Liu, Ying Hsiu YH; Abato, Paul P; Jodelka, Francine M FM; Barthel, Lea L; Kumar, Sujatha S; Dudley, Caroline C; Nelson, Mark M; Larson, Kelley K; Edmonds, Jason J; Bowser, Todd T; Draper, Michael M; Higgins, Paul P; Krainer, Adrian R AR

Publication Date: 2009-11-04

Variant appearance in text: BRCA1: E1694X

PubMed Link: 20161659

Variant Present in the following documents:

• Main text

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

Familial Cancer

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

Publication Date: 2010-06

Variant appearance in text: BRCA1: 5080G>T

PubMed Link: 19949876

Variant Present in the following documents:

• Main text

View BVdb publication page

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Human Splicing Finder: an online bioinformatics tool to predict splicing signals.

Nucleic Acids Research

Desmet, François-Olivier FO; Hamroun, Dalil D; Lalande, Marine M; Collod-Béroud, Gwenaëlle G; Claustres, Mireille M; Béroud, Christophe C

Publication Date: 2009-05

Variant appearance in text: BRCA1: 5080G>T

PubMed Link: 19339519

Variant Present in the following documents:

• Main text
• gkp215.pdf

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Aberrant RNA splicing and its functional consequences in cancer cells.

Disease Models & Mechanisms

Fackenthal, James D JD; Godley, Lucy A LA

Publication Date: 2008

Variant appearance in text: BRCA1: E1694X

PubMed Link: 19048051

Variant Present in the following documents:

• Main text

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Binding of DAZAP1 and hnRNPA1/A2 to an exonic splicing silencer in a natural BRCA1 exon 18 mutant.

Molecular And Cellular Biology

Goina, Elisa E; Skoko, Natasa N; Pagani, Franco F

Publication Date: 2008-06

Variant appearance in text: BRCA1: E1694X

PubMed Link: 18391021

Variant Present in the following documents:

• Main text

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ESEfinder: A web resource to identify exonic splicing enhancers.

Nucleic Acids Research

Cartegni, Luca L; Wang, Jinhua J; Zhu, Zhengwei Z; Zhang, Michael Q MQ; Krainer, Adrian R AR

Publication Date: 2003-07-01

Variant appearance in text: BRCA1: E1694X

PubMed Link: 12824367

Variant Present in the following documents:

• Main text

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BRCA2 T2722R is a deleterious allele that causes exon skipping.

American Journal Of Human Genetics

Fackenthal, James D JD; Cartegni, Luca L; Krainer, Adrian R AR; Olopade, Olufunmilayo I OI

Publication Date: 2002-09

Variant appearance in text: BRCA1: E1694X

PubMed Link: 12145750

Variant Present in the following documents:

• Main text

View BVdb publication page

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