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: 1384G>T; E462*

PubMed Link: 37129948

Variant Present in the following documents:

• Main text
• can-22-2620_supplementary_methods_suppsm.pdf
• can-22-2620_figure_s2_suppsf2.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: BRCA2: 1384G>T; E462*

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.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: BRCA2: 1384G>T; Glu462Ter

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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Frequency of BRCA1 and BRCA2 mutations in ovarian cancer patients in South-East Poland.

Hereditary Cancer In Clinical Practice

Jasiewicz, Andrzej A; Rudnicka, Helena H; Kluźniak, Wojciech W; Gronwald, Wojciech W; Kluz, Tomasz T; Cybulski, Cezary C; Jakubowska, Anna A; Lubiński, Jan J; Gronwald, Jacek J

Publication Date: 2022-04-05

Variant appearance in text: BRCA2: 1384G>T

PubMed Link: 35382848

Variant Present in the following documents:

• 13053_2022_Article_219.pdf

View BVdb publication page

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A comprehensive analysis of somatic alterations in Chinese ovarian cancer patients.

Scientific Reports

Zhang, Yingli Y; Shi, Xiaoliang X; Zhang, Jiejie J; Chen, Xi X; Zhang, Peng P; Liu, Angen A; Zhu, Tao T

Publication Date: 2021-01-11

Variant appearance in text: BRCA2: 1384G>T; E462*

PubMed Link: 33432021

Variant Present in the following documents:

• 41598_2020_79694_MOESM2_ESM.xlsx, sheet 1

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: 1384G>T; Glu462X

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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Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank.

Genome Medicine

Abul-Husn, Noura S NS; Soper, Emily R ER; Odgis, Jacqueline A JA; Cullina, Sinead S; Bobo, Dean D; Moscati, Arden A; Rodriguez, Jessica E JE; , ; , ; Loos, Ruth J F RJF; Cho, Judy H JH; Belbin, Gillian M GM; Suckiel, Sabrina A SA; Kenny, Eimear E EE

Publication Date: 2019-12-31

Variant appearance in text: BRCA2: 1384G>T; Glu462Ter

PubMed Link: 31892343

Variant Present in the following documents:

• 13073_2019_691_MOESM1_ESM.pdf

View BVdb publication page

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Impact of genomic profiling on the treatment and outcomes of patients with advanced gastrointestinal malignancies.

Cancer Medicine

Dhir, Mashaal M; Choudry, Haroon A HA; Holtzman, Matthew P MP; Pingpank, James F JF; Ahrendt, Steven A SA; Zureikat, Amer H AH; Hogg, Melissa E ME; Bartlett, David L DL; Zeh, Herbert J HJ; Singhi, Aatur D AD; Bahary, Nathan N

Publication Date: 2017-01

Variant appearance in text: BRCA2: E462*

PubMed Link: 28028924

Variant Present in the following documents:

• CAM4-6-195-s001.xlsx, sheet 1

View BVdb publication page

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