Publications:

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Hereditary Breast Cancer in Romania-Molecular Particularities and Genetic Counseling Challenges in an Eastern European Country.

Biomedicines

Cătană, Andreea A; Trifa, Adrian P AP; Achimas-Cadariu, Patriciu A PA; Bolba-Morar, Gabriela G; Lisencu, Carmen C; Kutasi, Eniko E; Chelaru, Vlad F VF; Muntean, Maximilian M; Martin, Daniela L DL; Antone, Nicoleta Z NZ; Fetica, Bogdan B; Pop, Florina F; Militaru, Mariela S MS

Publication Date: 2023-05-08

Variant appearance in text: BRCA1: 3607C>T; Arg1203Ter

PubMed Link: 37239058

Variant Present in the following documents:

• Main text
• biomedicines-11-01386.pdf

View BVdb publication page

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Spectrum of High-Risk Mutations among Breast Cancer Patients Referred for Multigene Panel Testing in a Romanian Population.

Cancers

Goidescu, Iulian Gabriel IG; Nemeti, Georgiana G; Surcel, Mihai M; Caracostea, Gabriela G; Florian, Andreea Roxana AR; Cruciat, Gheorghe G; Staicu, Adelina A; Muresan, Daniel D; Goidescu, Cerasela C; Pintican, Roxana R; Eniu, Dan Tudor DT

Publication Date: 2023-03-22

Variant appearance in text: BRCA1: 3607C>T; Arg1203Ter

PubMed Link: 36980780

Variant Present in the following documents:

• Main text
• cancers-15-01895.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: 3607C>T; Arg1203Ter; rs62625308

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1
• crc-22-0136-s01.xlsx, sheet 3

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: 3607C>T; Arg1203Ter

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: 3607C>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: 3607C>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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Bortezomib abrogates temozolomide-induced autophagic flux through an ATG5 dependent pathway.

Frontiers In Cell And Developmental Biology

Rahman, Mohummad Aminur MA; Engelsen, Agnete S T AST; Sarowar, Shahin S; Bindesbøll, Christian C; Birkeland, Even E; Goplen, Dorota D; Lotsberg, Maria L ML; Knappskog, Stian S; Simonsen, Anne A; Chekenya, Martha M

Publication Date: 2022

Variant appearance in text: BRCA1: R1203X

PubMed Link: 36619857

Variant Present in the following documents:

• DataSheet2.xlsx, sheet 1

View BVdb publication page

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

Frontiers In Genetics

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

Publication Date: 2022

Variant appearance in text: rs62625308

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 2

View BVdb publication page

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

International Journal Of Cancer

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

Publication Date: 2022-11-17

Variant appearance in text: BRCA1: 3607C>T; Arg1203*; rs62625308

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-s005.xlsx, sheet 3
• IJC-152-1159-s009.xlsx, sheet 1
• IJC-152-1159-s001.xlsx, sheet 2
• IJC-152-1159-s011.xlsx, sheet 1
• IJC-152-1159-s010.xlsx, sheet 6
• IJC-152-1159-s006.xlsx, sheet 2
• IJC-152-1159-s001.xlsx, sheet 3
• IJC-152-1159-s011.xlsx, sheet 3
• IJC-152-1159-s005.xlsx, sheet 2

View BVdb publication page

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Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications

Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL

Publication Date: 2022-11-07

Variant appearance in text: BRCA1: 3607C>T; R1203X

PubMed Link: 36344544

Variant Present in the following documents:

• 41467_2022_34523_MOESM3_ESM.xlsx, sheet 1
• 41467_2022_34523_MOESM10_ESM.xlsx, sheet 3
• 41467_2022_34523_MOESM4_ESM.xlsx, sheet 2
• 41467_2022_34523_MOESM4_ESM.xlsx, sheet 6
• 41467_2022_34523_MOESM10_ESM.xlsx, sheet 2
• 41467_2022_34523_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Increased Risk of Hereditary Prostate Cancer in Italian Families with Hereditary Breast and Ovarian Cancer Syndrome Harboring Mutations in <i>BRCA</i> and in Other Susceptibility Genes.

Genes

D'Elia, Giovanna G; Caliendo, Gemma G; Tzioni, Maria-Myrsini MM; Albanese, Luisa L; Passariello, Luana L; Molinari, Anna Maria AM; Vietri, Maria Teresa MT

Publication Date: 2022-09-21

Variant appearance in text: BRCA1: 3607C>T; Arg1203Ter

PubMed Link: 36292577

Variant Present in the following documents:

• genes-13-01692.pdf

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: 3607C>T; Arg1203X

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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Germline variants profiling of BRCA1 and BRCA2 in Chinese Hakka breast and ovarian cancer patients.

Bmc Cancer

Zhang, Yunuo Y; Wu, Heming H; Yu, Zhikang Z; Li, Liang L; Zhang, Jinhong J; Liang, Xinhong X; Huang, Qingyan Q

Publication Date: 2022-08-02

Variant appearance in text: BRCA1: Arg1203Ter

PubMed Link: 35918668

Variant Present in the following documents:

• Main text
• 12885_2022_Article_9943.pdf

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: BRCA1: 3607C>T; Arg1203ter; rs62625308

PubMed Link: 35693198

Variant Present in the following documents:

• Main text
• pby010.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: 3607C>T; Arg1203Ter; rs62625308

PubMed Link: 35595529

Variant Present in the following documents:

• LSA-2021-01319_TableS1.xlsx, sheet 1
• LSA-2021-01319_TableS5.xlsx, sheet 1
• LSA-2021-01319_TableS3.xlsx, sheet 3

View BVdb publication page

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Genetic, clinic and histopathologic characterization of BRCA-associated hereditary breast and ovarian cancer in southwestern Finland.

Scientific Reports

Pallonen, Terhi Aino-Sofia TA; Lempiäinen, Salla Maria Matleena SMM; Joutsiniemi, Titta Kristiina TK; Aaltonen, Riitta Irmeli RI; Pohjola, Pia Erika PE; Kankuri-Tammilehto, Minna Kristiina MK

Publication Date: 2022-04-25

Variant appearance in text: BRCA1: 3607C>T; Arg1203Ter

PubMed Link: 35469032

Variant Present in the following documents:

• Main text
• 41598_2022_Article_10519.pdf

View BVdb publication page

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

Jama Oncology

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

Publication Date: 2022-06-01

Variant appearance in text: BRCA1: 3607C>T; Arg1203*; rs62625308

PubMed Link: 35420638

Variant Present in the following documents:

• jamaoncol-e220476-s001.pdf

View BVdb publication page

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Spectrum of BRCA1/2 Mutations in Romanian Breast and Ovarian Cancer Patients.

International Journal Of Environmental Research And Public Health

Vidra, Radu R; Ciuleanu, Tudor Eliade TE; Nemeș, Adina A; Pascu, Oana O; Heroiu, Ana Maria AM; Antone, Nicoleta N; Vidrean, Andreea Iulia AI; Oprean, Cristina Marinela CM; Pop, Laura Ancuta LA; Berindan-Neagoe, Ioana I; Eniu, Rares R; Eniu, Alexandru A

Publication Date: 2022-04-04

Variant appearance in text: BRCA1: 3607C>T; Arg1203Ter

PubMed Link: 35409996

Variant Present in the following documents:

• Main text
• ijerph-19-04314.pdf

View BVdb publication page

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Mutation Landscape of Homologous Recombination Repair Genes in Epithelial Ovarian Cancer in China and Its Relationship With Clinicopathlological Characteristics.

Frontiers In Oncology

Yao, Qianlan Q; Liu, Yanhui Y; Zhang, Lihua L; Dong, Lin L; Bao, Longlong L; Bai, Qianming Q; Cui, Qian Q; Xu, Jie J; Li, Min M; Liu, Jing J; Chuai, Shannon S; Ying, Jianming J; Zhang, Zhihong Z; Zhou, Xiaoyan X

Publication Date: 2022

Variant appearance in text: BRCA1: 3607C>T; Arg1203*

PubMed Link: 35186721

Variant Present in the following documents:

• DataSheet_2.xlsx, sheet 1
• DataSheet_2.xlsx, sheet 3

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: BRCA1: 3607C>T; R1203X; rs62625308

PubMed Link: 35165121

Variant Present in the following documents:

• Main text
• LSA-2021-01263.pdf

View BVdb publication page

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The ubiquitin-dependent ATPase p97 removes cytotoxic trapped PARP1 from chromatin.

Nature Cell Biology

Krastev, Dragomir B DB; Li, Shudong S; Sun, Yilun Y; Wicks, Andrew J AJ; Hoslett, Gwendoline G; Weekes, Daniel D; Badder, Luned M LM; Knight, Eleanor G EG; Marlow, Rebecca R; Pardo, Mercedes Calvo MC; Yu, Lu L; Talele, Tanaji T TT; Bartek, Jiri J; Choudhary, Jyoti S JS; Pommier, Yves Y; Pettitt, Stephen J SJ; Tutt, Andrew N J ANJ; Ramadan, Kristijan K; Lord, Christopher J CJ

Publication Date: 2022-01-10

Variant appearance in text: BRCA1: 3607C>T; R1203*

PubMed Link: 35013556

Variant Present in the following documents:

• Main text
• 41556_2021_Article_807.pdf

View BVdb publication page

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The ubiquitin-dependent ATPase p97 removes cytotoxic trapped PARP1 from chromatin.

Nature Cell Biology

Krastev, Dragomir B DB; Li, Shudong S; Sun, Yilun Y; Wicks, Andrew J AJ; Hoslett, Gwendoline G; Weekes, Daniel D; Badder, Luned M LM; Knight, Eleanor G EG; Marlow, Rebecca R; Pardo, Mercedes Calvo MC; Yu, Lu L; Talele, Tanaji T TT; Bartek, Jiri J; Choudhary, Jyoti S JS; Pommier, Yves Y; Pettitt, Stephen J SJ; Tutt, Andrew N J ANJ; Ramadan, Kristijan K; Lord, Christopher J CJ

Publication Date: 2022-01

Variant appearance in text: BRCA1: 3607C>T; R1203*

PubMed Link: 35013556

Variant Present in the following documents:

• Main text
• 41556_2021_Article_807.pdf

View BVdb publication page

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The first comprehensive database of germline pathogenic variants in East Asian cancer patients.

Database : The Journal Of Biological Databases And Curation

Shi, Xiaoshun X; Li, Ruidong R; Zhai, Jianxue J; Chen, Allen Menglin AM; Huang, Kailing K; Zheng, Zhouxia Z; Chen, Zhuona Z; Dong, Xiaoyin X; Liu, Xiguang X; Lu, Di D; Feng, Siyang S; Diao, Dingwei D; Ren, Pengfei P; Liu, Zhaoguo Z; Morahan, Grant G; Cai, Kaican K

Publication Date: 2021-12-29

Variant appearance in text: rs62625308

PubMed Link: 34964846

Variant Present in the following documents:

• Main text
• baab075.pdf

View BVdb publication page

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The first comprehensive database of germline pathogenic variants in East Asian cancer patients.

Database : The Journal Of Biological Databases And Curation

Shi, Xiaoshun X; Li, Ruidong R; Zhai, Jianxue J; Chen, Allen Menglin AM; Huang, Kailing K; Zheng, Zhouxia Z; Chen, Zhuona Z; Dong, Xiaoyin X; Liu, Xiguang X; Lu, Di D; Feng, Siyang S; Diao, Dingwei D; Ren, Pengfei P; Liu, Zhaoguo Z; Morahan, Grant G; Cai, Kaican K

Publication Date: 2021-12-29

Variant appearance in text: rs62625308

PubMed Link: 34964846

Variant Present in the following documents:

• Main text
• baab075.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: 3607C>T; Arg1203Ter

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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Genetic epidemiology of BRCA1- and BRCA2-associated cancer across Latin America.

Npj Breast Cancer

Herzog, Josef S JS; Chavarri-Guerra, Yanin Y; Castillo, Danielle D; Abugattas, Julio J; Villarreal-Garza, Cynthia C; Sand, Sharon S; Clague-Dehart, Jessica J; Alvarez-Gómez, Rosa M RM; Wegman-Ostrosky, Talia T; Mohar, Alejandro A; Mora, Pamela P; Del Toro-Valero, Azucena A; Daneri-Navarro, Adrian A; Rodriguez, Yenni Y; Cruz-Correa, Marcia M; Ashton-Prolla, Patricia P; Alemar, Bárbara B; Mejia, Rosa R; Gallardo, Lenny L; Shaw, Robin R; Yang, Kai K; Cervantes, Aleck A; Tsang, Kevin K; Nehoray, Bita B; Barrera Saldana, Hugo H; Neuhausen, Susan S; Weitzel, Jeffrey N JN

Publication Date: 2021-08-19

Variant appearance in text: rs62625308

PubMed Link: 34413315

Variant Present in the following documents:

• 41523_2021_317_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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BRCA1 and BRCA2 Variation in Taiwanese General Population and the Cancer Cohort.

Frontiers In Molecular Biosciences

Chian, Jiasheng J; Sinha, Siddharth S; Qin, Zixin Z; Wang, San Ming SM

Publication Date: 2021

Variant appearance in text: BRCA1: 3607C>T; Arg1203Ter

PubMed Link: 34235180

Variant Present in the following documents:

• Main text
• fmolb-08-685174.pdf

View BVdb publication page

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Prevalence of BRCA1 and BRCA2 Mutations Among Patients With Ovarian, Primary Peritoneal, and Fallopian Tube Cancer in India: A Multicenter Cross-Sectional Study.

Jco Global Oncology

Gupta, Sudeep S; Rajappa, Senthil S; Advani, Suresh S; Agarwal, Amit A; Aggarwal, Shyam S; Goswami, Chanchal C; Palanki, Satya Dattatreya SD; Arya, Devavrat D; Patil, Shekhar S; Kodagali, Rohit R

Publication Date: 2021-06

Variant appearance in text: BRCA1: Arg1203ter

PubMed Link: 34101484

Variant Present in the following documents:

• go-7-go.21.00051.pdf

View BVdb publication page

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The shifting landscape of genetic alterations separating endometriosis and ovarian endometrioid carcinoma.

American Journal Of Cancer Research

Gaia-Oltean, Adriana I AI; Pop, Laura A LA; Cojocneanu, Roxana M RM; Buse, Mihail M; Zimta, Andreea A AA; Kubelac, Paul P; Irimie, Alexandru A; Coza, Ovidiu F OF; Roman, Horace H; Berindan-Neagoe, Ioana I

Publication Date: 2021

Variant appearance in text: BRCA1: 3607C>T

PubMed Link: 33948387

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Prognostic and Predictive Role of Somatic BRCA Mutations in Ovarian Cancer: Results from a Multicenter Cohort Study.

Diagnostics (Basel, Switzerland)

Toss, Angela A; Piombino, Claudia C; Tenedini, Elena E; Bologna, Alessandra A; Gasparini, Elisa E; Tarantino, Vittoria V; Filieri, Maria Elisabetta ME; Cottafavi, Luca L; Giovanardi, Filippo F; Madrigali, Stefano S; Civallero, Monica M; Marcheselli, Luigi L; Marchi, Isabella I; Domati, Federica F; Venturelli, Marta M; Barbieri, Elena E; Grandi, Giovanni G; Tagliafico, Enrico E; Cortesi, Laura L

Publication Date: 2021-03-21

Variant appearance in text: BRCA1: 3607C>T; Arg1203Ter

PubMed Link: 33801055

Variant Present in the following documents:

• Main text

View BVdb publication page

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Next Generation Sequencing-Based Germline Panel Testing for Breast and Ovarian Cancers in Pakistan.

Asian Pacific Journal Of Cancer Prevention : Apjcp

Tariq, Hassan H; Gul, Asma A; Khadim, Tahir T; Ud-Din, Hafeez H; Tipu, Hamid Nawaz HN; Asif, Muhammad M; Ahmed, Rabia R

Publication Date: 2021-03-01

Variant appearance in text: BRCA1: 3607C>T; Arg1203Ter; rs62625308

PubMed Link: 33773534

Variant Present in the following documents:

• Main text

View BVdb publication page

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High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer.

Journal Of Medical Genetics

Evans, D Gareth DG; van Veen, Elke Maria EM; Byers, Helen J HJ; Evans, Sarah J SJ; Burghel, George J GJ; Woodward, Emma Roisin ER; Harkness, Elaine F EF; Eccles, Diana M DM; Greville-Haygate, Stephanie L SL; Ellingford, Jamie M JM; Bowers, Naomi L NL; Pereira, Marta M; Wallace, Andrew J AJ; Howell, Sasha J SJ; Howell, Anthony A; Lalloo, Fiona F; Newman, William G WG; Smith, Miriam Jane MJ

Publication Date: 2021-03-23

Variant appearance in text: BRCA1: 3607C>T; Arg1203*

PubMed Link: 33758026

Variant Present in the following documents:

• jmedgenet-2020-107347supp001.pdf

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High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer.

Journal Of Medical Genetics

Evans, D Gareth DG; van Veen, Elke Maria EM; Byers, Helen J HJ; Evans, Sarah J SJ; Burghel, George J GJ; Woodward, Emma Roisin ER; Harkness, Elaine F EF; Eccles, Diana M DM; Greville-Haygate, Stephanie L SL; Ellingford, Jamie M JM; Bowers, Naomi L NL; Pereira, Marta M; Wallace, Andrew J AJ; Howell, Sasha J SJ; Howell, Anthony A; Lalloo, Fiona F; Newman, William G WG; Smith, Miriam Jane MJ

Publication Date: 2022-02

Variant appearance in text: BRCA1: 3607C>T; Arg1203*

PubMed Link: 33758026

Variant Present in the following documents:

• jmedgenet-2020-107347supp001.pdf

View BVdb publication page

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Prolonged recombinant pregnancy hormone use in BRCA1 and BRCA2 mutation carriers.

European Journal Of Cancer Prevention : The Official Journal Of The European Cancer Prevention Organisation (Ecp)

Depypere, Herman H; Su, Yanrong Y; Dang, Nhi N; Poppe, Bruce B; Stanczyk, Frank F; Janssens, Jaak J; Russo, Jose J

Publication Date: 2021-05-01

Variant appearance in text: BRCA1: Arg1203*

PubMed Link: 33720054

Variant Present in the following documents:

• Main text
• ejcp-30-195.pdf

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Identification of pathogenic variants in cancer genes using base editing screens with editing efficiency correction.

Genome Biology

Huang, Changcai C; Li, Guangyu G; Wu, Jiayu J; Liang, Junbo J; Wang, Xiaoyue X

Publication Date: 2021-03-10

Variant appearance in text: BRCA1: R1203X

PubMed Link: 33691754

Variant Present in the following documents:

• 13059_2021_2305_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Comprehensive molecular profiling of Taiwanese breast cancers revealed potential therapeutic targets: prevalence of actionable mutations among 380 targeted sequencing analyses.

Bmc Cancer

Huang, Chi-Cheng CC; Tsai, Yi-Fang YF; Liu, Chun-Yu CY; Chao, Ta-Chung TC; Lien, Pei-Ju PJ; Lin, Yen-Shu YS; Feng, Chin-Jung CJ; Chiu, Jen-Hwey JH; Hsu, Chih-Yi CY; Tseng, Ling-Ming LM

Publication Date: 2021-02-25

Variant appearance in text: BRCA1: R1203*

PubMed Link: 33632156

Variant Present in the following documents:

• Main text
• 12885_2021_Article_7931.pdf

View BVdb publication page

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Tumor BRCA Testing in High Grade Serous Carcinoma: Mutation Rates and Optimal Tissue Requirements.

Cancers

Turashvili, Gulisa G; Lazaro, Conxi C; Ying, Shengjie S; Charames, George G; Wong, Andrew A; Hamilton, Krista K; Yee, Denise D; Agro, Evangeline E; Chang, Martin M; Pollett, Aaron A; Lerner-Ellis, Jordan J

Publication Date: 2020-11-21

Variant appearance in text: BRCA1: 3607C>T; Arg1203*

PubMed Link: 33233347

Variant Present in the following documents:

• Main text
• cancers-12-03468.pdf

View BVdb publication page

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: BRCA1: 3607C>T; R1203*

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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Exome sequencing and characterization of 49,960 individuals in the UK Biobank.

Nature

Van Hout, Cristopher V CV; Tachmazidou, Ioanna I; Backman, Joshua D JD; Hoffman, Joshua D JD; Liu, Daren D; Pandey, Ashutosh K AK; Gonzaga-Jauregui, Claudia C; Khalid, Shareef S; Ye, Bin B; Banerjee, Nilanjana N; Li, Alexander H AH; O'Dushlaine, Colm C; Marcketta, Anthony A; Staples, Jeffrey J; Schurmann, Claudia C; Hawes, Alicia A; Maxwell, Evan E; Barnard, Leland L; Lopez, Alexander A; Penn, John J; Habegger, Lukas L; Blumenfeld, Andrew L AL; Bai, Xiaodong X; O'Keeffe, Sean S; Yadav, Ashish A; Praveen, Kavita K; Jones, Marcus M; Salerno, William J WJ; Chung, Wendy K WK; Surakka, Ida I; Willer, Cristen J CJ; Hveem, Kristian K; Leader, Joseph B JB; Carey, David J DJ; Ledbetter, David H DH; , ; Cardon, Lon L; Yancopoulos, George D GD; Economides, Aris A; Coppola, Giovanni G; Shuldiner, Alan R AR; Balasubramanian, Suganthi S; Cantor, Michael M; , ; Nelson, Matthew R MR; Whittaker, John J; Reid, Jeffrey G JG; Marchini, Jonathan J; Overton, John D JD; Scott, Robert A RA; Abecasis, Gonçalo R GR; Yerges-Armstrong, Laura L; Baras, Aris A

Publication Date: 2020-10

Variant appearance in text: BRCA1: 3607C>T; Arg1203*

PubMed Link: 33087929

Variant Present in the following documents:

• 41586_2020_2853_MOESM11_ESM.xlsx, sheet 1

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: 3607C>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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Heritable Susceptibility to Breast Cancer among African-American Women in the Detroit Research on Cancer Survivors Study.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Purrington, Kristen S KS; Raychaudhuri, Sreejata S; Simon, Michael S MS; Clark, Julie J; Ratliff, Valerie V; Dyson, Gregory G; Craig, Douglas B DB; Boerner, Julie L JL; Beebe-Dimmer, Jennifer L JL; Schwartz, Ann G AG

Publication Date: 2020-11

Variant appearance in text: BRCA1: 3607C>T

PubMed Link: 32868316

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions.

Nature Communications

Fahed, Akl C AC; Wang, Minxian M; Homburger, Julian R JR; Patel, Aniruddh P AP; Bick, Alexander G AG; Neben, Cynthia L CL; Lai, Carmen C; Brockman, Deanna D; Philippakis, Anthony A; Ellinor, Patrick T PT; Cassa, Christopher A CA; Lebo, Matthew M; Ng, Kenney K; Lander, Eric S ES; Zhou, Alicia Y AY; Kathiresan, Sekar S; Khera, Amit V AV

Publication Date: 2020-08-20

Variant appearance in text: BRCA1: Arg1203X; rs62625308

PubMed Link: 32820175

Variant Present in the following documents:

• 41467_2020_17374_MOESM1_ESM.pdf

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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: BRCA1: 3607C>T; Arg1203Ter; rs62625308

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: BRCA1: 3607C>T; Arg1203X

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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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: R1203*

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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Correction: Møller, P.; et al. Causes for Frequent Pathogenic BRCA1 Variants Include Low Penetrance in Fertile Ages, Recurrent De-Novo Mutations and Genetic Drift. Cancers 2019, 11, 132.

Cancers

Møller, Pål P; Dominguez-Valentin, Mev M; Rødland, Einar Andreas EA; Hovig, Eivind E

Publication Date: 2020-02-10

Variant appearance in text: BRCA1: 3607C>T

PubMed Link: 32050665

Variant Present in the following documents:

• cancers-12-00410.pdf

View BVdb publication page

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