Publications:

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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: BAP1: 1938T>A; Tyr646Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Germline BAP1 Mutation in a Family With Multi-Generational Meningioma With Rhabdoid Features: A Case Series and Literature Review.

Frontiers In Oncology

Prasad, Rahul N RN; Gardner, Ulysses G UG; Yaney, Alexander A; Prevedello, Daniel M DM; Koboldt, Daniel C DC; Thomas, Diana L DL; Mardis, Elaine R ER; Palmer, Joshua D JD

Publication Date: 2021

Variant appearance in text: BAP1: Tyr646*

PubMed Link: 34504799

Variant Present in the following documents:

• Main text
• fonc-11-721712.pdf

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The PI3K/mTOR Pathway Is Targeted by Rare Germline Variants in Patients with Both Melanoma and Renal Cell Carcinoma.

Cancers

Hubert, Jean-Noël JN; Suybeng, Voreak V; Vallée, Maxime M; Delhomme, Tiffany M TM; Maubec, Eve E; Boland, Anne A; Bacq, Delphine D; Deleuze, Jean-François JF; Jouenne, Fanélie F; Brennan, Paul P; McKay, James D JD; Avril, Marie-Françoise MF; Bressac-de Paillerets, Brigitte B; Chanudet, Estelle E

Publication Date: 2021-05-07

Variant appearance in text: BAP1: 1938T>A

PubMed Link: 34067022

Variant Present in the following documents:

• Main text
• cancers-13-02243.pdf

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Melanoma Risk and Melanocyte Biology.

Acta Dermato-Venereologica

Bertrand, Julie U JU; Steingrimsson, Eirikur E; Jouenne, Fanélie F; Bressac-de Paillerets, Brigitte B; Larue, Lionel L

Publication Date: 2020-06-03

Variant appearance in text: BAP1: Y646X

PubMed Link: 32346747

Variant Present in the following documents:

• Main text
• ActaDV-100-11-5749.pdf

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Germline large deletion of BAP1 and decreased expression in non-tumor choroid in uveal melanoma patients with high risk for inherited cancer.

Genes, Chromosomes & Cancer

Boru, Getachew G; Grosel, Timothy W TW; Pilarski, Robert R; Stautberg, Meredith M; Massengill, James B JB; Jeter, Joanne J; Singh, Arun A; Marino, Meghan J MJ; McElroy, Joseph P JP; Davidorf, Frederick H FH; Cebulla, Colleen M CM; Abdel-Rahman, Mohamed H MH

Publication Date: 2019-09

Variant appearance in text: BAP1: 1938T>A; Y646*

PubMed Link: 30883995

Variant Present in the following documents:

• Main text

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BAP1 mutations in high-grade meningioma: implications for patient care.

Neuro-Oncology

Shankar, Ganesh M GM; Santagata, Sandro S

Publication Date: 2017-10-19

Variant appearance in text: N/A

PubMed Link: 28482042

Variant Present in the following documents:

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High-density array-CGH with targeted NGS unmask multiple noncontiguous minute deletions on chromosome 3p21 in mesothelioma.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Yoshikawa, Yoshie Y; Emi, Mitsuru M; Hashimoto-Tamaoki, Tomoko T; Ohmuraya, Masaki M; Sato, Ayuko A; Tsujimura, Tohru T; Hasegawa, Seiki S; Nakano, Takashi T; Nasu, Masaki M; Pastorino, Sandra S; Szymiczek, Agata A; Bononi, Angela A; Tanji, Mika M; Pagano, Ian I; Gaudino, Giovanni G; Napolitano, Andrea A; Goparaju, Chandra C; Pass, Harvey I HI; Yang, Haining H; Carbone, Michele M

Publication Date: 2016-11-22

Variant appearance in text: N/A

PubMed Link: 27834213

Variant Present in the following documents:

View BVdb publication page

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Germline BAP1 alterations in familial uveal melanoma.

Genes, Chromosomes & Cancer

Rai, Karan K; Pilarski, Robert R; Boru, Getachew G; Rehman, Muneeb M; Saqr, Ahmad H AH; Massengill, James B JB; Singh, Arun A; Marino, Meghan J MJ; Davidorf, Frederick H FH; Cebulla, Colleen M CM; H Abdel-Rahman, Mohamed M

Publication Date: 2017-02

Variant appearance in text: BAP1: 1938T>A; Y646*

PubMed Link: 27718540

Variant Present in the following documents:

• Main text

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Combined Genetic and Genealogic Studies Uncover a Large BAP1 Cancer Syndrome Kindred Tracing Back Nine Generations to a Common Ancestor from the 1700s.

Plos Genetics

Carbone, Michele M; Flores, Erin G EG; Emi, Mitsuru M; Johnson, Todd A TA; Tsunoda, Tatsuhiko T; Behner, Dusty D; Hoffman, Harriet H; Hesdorffer, Mary M; Nasu, Masaki M; Napolitano, Andrea A; Powers, Amy A; Minaai, Michael M; Baumann, Francine F; Bryant-Greenwood, Peter P; Lauk, Olivia O; Kirschner, Michaela B MB; Weder, Walter W; Opitz, Isabelle I; Pass, Harvey I HI; Gaudino, Giovanni G; Pastorino, Sandra S; Yang, Haining H

Publication Date: 2015-12

Variant appearance in text: BAP1: 1938T>A; Tyr646*

PubMed Link: 26683624

Variant Present in the following documents:

• Main text
• pgen.1005633.pdf

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Germline BAP1 mutation in a family with high incidence of multiple primary cancers and a potential gene-environment interaction.

Cancer Letters

Cheung, Mitchell M; Kadariya, Yuwaraj Y; Talarchek, Jacqueline J; Pei, Jianming J; Ohar, Jill A JA; Kayaleh, Omar R OR; Testa, Joseph R JR

Publication Date: 2015-12-28

Variant appearance in text: BAP1: 1938T>A; Tyr646X

PubMed Link: 26409435

Variant Present in the following documents:

• Main text

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