Publications:

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Tissue and liquid biopsy profiling reveal convergent tumor evolution and therapy evasion in breast cancer.

Nature Communications

Sivakumar, Smruthy S; Jin, Dexter X DX; Tukachinsky, Hanna H; Murugesan, Karthikeyan K; McGregor, Kimberly K; Danziger, Natalie N; Pavlick, Dean D; Gjoerup, Ole O; Ross, Jeffrey S JS; Harmon, Robert R; Chung, Jon J; Decker, Brennan B; Dennis, Lucas L; Frampton, Garrett M GM; Molinero, Luciana L; Oesterreich, Steffi S; Venstrom, Jeffrey M JM; Oxnard, Geoffrey R GR; Hegde, Priti S PS; Sokol, Ethan S ES

Publication Date: 2022-12-05

Variant appearance in text: BRCA2: L1053*

PubMed Link: 36470901

Variant Present in the following documents:

• 41467_2022_35245_MOESM4_ESM.xlsx, sheet 13

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: L1053X

PubMed Link: 35165121

Variant Present in the following documents:

• LSA-2021-01263_TableS5.xlsx, sheet 3

View BVdb publication page

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Bioinformatics in Sudan: Status and challenges case study: The National University-Sudan.

Plos Computational Biology

Mohamed, Sofia B SB; Kambal, Sumaya S; Ibrahim, Sabah A E SAE; Abdalwhab, Esra E; Munir, Abdalla A; Ibrahim, Arwa A; Ali, Qurashi Mohamed QM

Publication Date: 2021-10

Variant appearance in text: BRCA2: L1053X

PubMed Link: 34673773

Variant Present in the following documents:

• pcbi.1009462.pdf

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Tracing ovarian cancer research in Morocco: A bibliometric analysis.

Gynecologic Oncology Reports

El Bairi, Khalid K; Al Jarroudi, Ouissam O; Afqir, Said S

Publication Date: 2021-08

Variant appearance in text: BRCA2: L1053X

PubMed Link: 34150972

Variant Present in the following documents:

• mmc1.pdf

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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: 3158T>A; Leu1053X

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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Age-dependent penetrance of different germline mutations in the BRCA1 gene.

Journal Of Clinical Pathology

Al-Mulla, F F; Bland, J M JM; Serratt, D D; Miller, J J; Chu, C C; Taylor, G T GT

Publication Date: 2009-04

Variant appearance in text: BRCA2: L1053X

PubMed Link: 19329713

Variant Present in the following documents:

• Main text
• CPT-62-04-0350.pdf

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