Publications:

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BRCA2 Germline Mutations Identify Gastric Cancers Responsive to PARP Inhibitors.

Cancer Research

Petrelli, Annalisa A; Rizzolio, Sabrina S; Pietrantonio, Filippo F; Bellomo, Sara E SE; Benelli, Matteo M; De Cecco, Loris L; Romagnoli, Dario D; Berrino, Enrico E; Orrù, Claudia C; Ribisi, Salvatore S; Moya-Rull, Daniel D; Migliore, Cristina C; Conticelli, Daniela D; Maina, Irene M IM; Puliga, Elisabetta E; Serra, Violeta V; Pellegrino, Benedetta B; Llop-Guevara, Alba A; Musolino, Antonino A; Siena, Salvatore S; Sartore-Bianchi, Andrea A; Prisciandaro, Michele M; Morano, Federica F; Antista, Maria M; Fumagalli, Uberto U; De Manzoni, Giovanni G; Degiuli, Maurizio M; Baiocchi, Gian Luca GL; Amisano, Marco F MF; Ferrero, Alessandro A; Marchiò, Caterina C; Corso, Simona S; Giordano, Silvia S

Publication Date: 2023-05-02

Variant appearance in text: BRCA2: S599*

PubMed Link: 37129948

Variant Present in the following documents:

• Main text
• can-22-2620_supplementary_methods_suppsm.pdf

View BVdb publication page

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Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications

Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A

Publication Date: 2021-04-14

Variant appearance in text: BRCA2: S599*

PubMed Link: 33854067

Variant Present in the following documents:

• 41467_2021_22478_MOESM8_ESM.xlsx, sheet 7

View BVdb publication page

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Novel and recurrent BRCA1/BRCA2 germline mutations in patients with breast/ovarian cancer: a series from the south of Tunisia.

Journal Of Translational Medicine

Ben Ayed-Guerfali, Dorra D; Ben Kridis-Rejab, Wala W; Ammous-Boukhris, Nihel N; Ayadi, Wajdi W; Charfi, Slim S; Khanfir, Afef A; Sellami-Boudawara, Tahia T; Frikha, Mounir M; Daoud, Jamel J; Mokdad-Gargouri, Raja R

Publication Date: 2021-03-16

Variant appearance in text: BRCA2: Ser599*

PubMed Link: 33726785

Variant Present in the following documents:

• Main text
• 12967_2021_Article_2772.pdf

View BVdb publication page

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Clinical characteristics and prognostic implications of BRCA-associated tumors in males: a pan-tumor survey.

Bmc Cancer

Sun, Peng P; Li, Yue Y; Chao, Xue X; Li, Jibin J; Luo, Rongzhen R; Li, Mei M; He, Jiehua J

Publication Date: 2020-10-14

Variant appearance in text: BRCA2: S599*

PubMed Link: 33054725

Variant Present in the following documents:

• 12885_2020_7481_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: BRCA2: S599*

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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Identification of 12 cancer types through genome deep learning.

Scientific Reports

Sun, Yingshuai Y; Zhu, Sitao S; Ma, Kailong K; Liu, Weiqing W; Yue, Yao Y; Hu, Gang G; Lu, Huifang H; Chen, Wenbin W

Publication Date: 2019-11-21

Variant appearance in text: BRCA2: S599*

PubMed Link: 31754222

Variant Present in the following documents:

• 41598_2019_53989_MOESM4_ESM.xlsx, sheet 4

View BVdb publication page

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BRE/BRCC45 regulates CDC25A stability by recruiting USP7 in response to DNA damage.

Nature Communications

Biswas, Kajal K; Philip, Subha S; Yadav, Aditya A; Martin, Betty K BK; Burkett, Sandra S; Singh, Vaibhav V; Babbar, Anav A; North, Susan Lynn SL; Chang, Suhwan S; Sharan, Shyam K SK

Publication Date: 2018-02-07

Variant appearance in text: BRCA2: S599*

PubMed Link: 29416040

Variant Present in the following documents:

• 41467_2018_3020_MOESM1_ESM.pdf

View BVdb publication page

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Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

Plos One

LaDuca, Holly H; Farwell, Kelly D KD; Vuong, Huy H; Lu, Hsiao-Mei HM; Mu, Wenbo W; Shahmirzadi, Layla L; Tang, Sha S; Chen, Jefferey J; Bhide, Shruti S; Chao, Elizabeth C EC

Publication Date: 2017

Variant appearance in text: BRCA2: S599*

PubMed Link: 28152038

Variant Present in the following documents:

• pone.0170843.s003.xlsx, sheet 1

View BVdb publication page

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Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines.

Hereditary Cancer In Clinical Practice

Cruz-Correa, Marcia M; Pérez-Mayoral, Julyann J; Dutil, Julie J; Echenique, Miguel M; Mosquera, Rafael R; Rivera-Román, Keila K; Umpierre, Sharee S; Rodriguez-Quilichini, Segundo S; Gonzalez-Pons, Maria M; Olivera, Myrta I MI; Pardo, Sherly S; ,

Publication Date: 2017

Variant appearance in text: BRCA2: Ser599*

PubMed Link: 28127413

Variant Present in the following documents:

• Main text
• 13053_2017_Article_63.pdf

View BVdb publication page

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FANCD2 limits replication stress and genome instability in cells lacking BRCA2.

Nature Structural & Molecular Biology

Michl, Johanna J; Zimmer, Jutta J; Buffa, Francesca M FM; McDermott, Ultan U; Tarsounas, Madalena M

Publication Date: 2016-08

Variant appearance in text: BRCA2: S599*

PubMed Link: 27322732

Variant Present in the following documents:

• NIHMS69022-supplement-Supplementary_Tables.pdf

View BVdb publication page

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