Publications:

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Extensive intratumor regional epigenetic heterogeneity in clear cell renal cell carcinoma targets kidney enhancers and is associated with poor outcome.

Clinical Epigenetics

El Khoury, Louis Y LY; Pan, Xiaoyu X; Hlady, Ryan A RA; Wagner, Ryan T RT; Shaikh, Shafiq S; Wang, Liguo L; Humphreys, Mitchell R MR; Castle, Erik P EP; Stanton, Melissa L ML; Ho, Thai H TH; Robertson, Keith D KD

Publication Date: 2023-04-29

Variant appearance in text: BRIP1: Q740H

PubMed Link: 37120552

Variant Present in the following documents:

• 13148_2023_1471_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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Multiple malignant tumors in a patient with familial chordoma, a case report.

Bmc Medical Genomics

Sumransub, Nuttavut N; Murugan, Paari P; Marette, Shelly S; Clohisy, Denis R DR; Skubitz, Keith M KM

Publication Date: 2021-08-31

Variant appearance in text: BRIP1: Q740H

PubMed Link: 34465320

Variant Present in the following documents:

• Main text
• 12920_2021_Article_1064.pdf

View BVdb publication page

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Germline Genetic Findings Which May Impact Therapeutic Decisions in Families with a Presumed Predisposition for Hereditary Breast and Ovarian Cancer.

Cancers

Velázquez, Carolina C; K, De Leeneer L; Esteban-Cardeñosa, Eva M EM; Avila Cobos, Francisco F; Lastra, Enrique E; Abella, Luis E LE; de la Cruz, Virginia V; Lobatón, Carmen D CD; Claes, Kathleen B KB; Durán, Mercedes M; Infante, Mar M

Publication Date: 2020-08-03

Variant appearance in text: BRIP1: Gln740His

PubMed Link: 32756499

Variant Present in the following documents:

• Main text

View BVdb publication page

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Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population.

Bmc Medical Genomics

da Costa E Silva Carvalho, Simone S; Cury, Nathalia Moreno NM; Brotto, Danielle Barbosa DB; de Araujo, Luiza Ferreira LF; Rosa, Reginaldo Cruz Alves RCA; Texeira, Lorena Alves LA; Plaça, Jessica Rodrigues JR; Marques, Adriana Aparecida AA; Peronni, Kamila Chagas KC; Ruy, Patricia de Cássia PC; Molfetta, Greice Andreotti GA; Moriguti, Julio Cesar JC; Carraro, Dirce Maria DM; Palmero, Edenir Inêz EI; Ashton-Prolla, Patricia P; de Faria Ferraz, Victor Evangelista VE; Silva, Wilson Araujo WA

Publication Date: 2020-02-10

Variant appearance in text: BRIP1: Gln740His; rs45589637

PubMed Link: 32039725

Variant Present in the following documents:

• Main text

View BVdb publication page

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Rare BRIP1 Missense Alleles Confer Risk for Ovarian and Breast Cancer.

Cancer Research

Moyer, Cassandra L CL; Ivanovich, Jennifer J; Gillespie, Jessica L JL; Doberstein, Rachel R; Radke, Marc R MR; Richardson, Marcy E ME; Kaufmann, Scott H SH; Swisher, Elizabeth M EM; Goodfellow, Paul J PJ

Publication Date: 2020-02-15

Variant appearance in text: BRIP1: Q740H

PubMed Link: 31822495

Variant Present in the following documents:

• Main text

View BVdb publication page

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Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.

International Journal Of Cancer

Potjer, Thomas P TP; Bollen, Sander S; Grimbergen, Anneliese J E M AJEM; van Doorn, Remco R; Gruis, Nelleke A NA; van Asperen, Christi J CJ; Hes, Frederik J FJ; van der Stoep, Nienke N; ,

Publication Date: 2019-05-15

Variant appearance in text: rs45589637

PubMed Link: 30414346

Variant Present in the following documents:

View BVdb publication page

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TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications

Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N

Publication Date: 2018-11-01

Variant appearance in text: BRIP1: Q740H; rs45589637

PubMed Link: 30385747

Variant Present in the following documents:

• 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity.

Breast Cancer Research : Bcr

Penkert, Judith J; Schmidt, Gunnar G; Hofmann, Winfried W; Schubert, Stephanie S; Schieck, Maximilian M; Auber, Bernd B; Ripperger, Tim T; Hackmann, Karl K; Sturm, Marc M; Prokisch, Holger H; Hille-Betz, Ursula U; Mark, Dorothea D; Illig, Thomas T; Schlegelberger, Brigitte B; Steinemann, Doris D

Publication Date: 2018-08-07

Variant appearance in text: rs45589637

PubMed Link: 30086788

Variant Present in the following documents:

• Main text

View BVdb publication page

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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: BRIP1: Q740H; rs45589637

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 6
• srep46105-s2.xls, sheet 8

View BVdb publication page

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Next-generation sequencing in familial breast cancer patients from Lebanon.

Bmc Medical Genomics

Jalkh, Nadine N; Chouery, Eliane E; Haidar, Zahraa Z; Khater, Christina C; Atallah, David D; Ali, Hamad H; Marafie, Makia J MJ; Al-Mulla, Mohamed R MR; Al-Mulla, Fahd F; Megarbane, Andre A

Publication Date: 2017-02-15

Variant appearance in text: BRIP1: Q740H

PubMed Link: 28202063

Variant Present in the following documents:

• Main text
• 12920_2017_Article_244.pdf

View BVdb publication page

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FGFR1 and NTRK3 actionable alterations in "Wild-Type" gastrointestinal stromal tumors.

Journal Of Translational Medicine

Shi, Eileen E; Chmielecki, Juliann J; Tang, Chih-Min CM; Wang, Kai K; Heinrich, Michael C MC; Kang, Guhyun G; Corless, Christopher L CL; Hong, David D; Fero, Katherine E KE; Murphy, James D JD; Fanta, Paul T PT; Ali, Siraj M SM; De Siena, Martina M; Burgoyne, Adam M AM; Movva, Sujana S; Madlensky, Lisa L; Heestand, Gregory M GM; Trent, Jonathan C JC; Kurzrock, Razelle R; Morosini, Deborah D; Ross, Jeffrey S JS; Harismendy, Olivier O; Sicklick, Jason K JK

Publication Date: 2016-12-14

Variant appearance in text: BRIP1: Q740H

PubMed Link: 27974047

Variant Present in the following documents:

• 12967_2016_1075_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Primary Peritoneal Carcinoma in a BRCA1/2-negative, PALB2-positive patient.

Gynecologic Oncology Reports

Kahn, Ryan R; Garcia-Soto, Arlene A; Silva-Smith, Rachel R; Pinto, Andre A; George, Sophia H L SH

Publication Date: 2016-08

Variant appearance in text: BRIP1: Q740H

PubMed Link: 27547810

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One

Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F

Publication Date: 2015

Variant appearance in text: BRIP1: Q740H; rs45589637

PubMed Link: 25905921

Variant Present in the following documents:

• pone.0123569.s008.xls, sheet 7

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Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One

Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE

Publication Date: 2014

Variant appearance in text: BRIP1: Q740H; rs45589637

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1

View BVdb publication page

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Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

Plos Genetics

Haiman, Christopher A CA; Han, Ying Y; Feng, Ye Y; Xia, Lucy L; Hsu, Chris C; Sheng, Xin X; Pooler, Loreall C LC; Patel, Yesha Y; Kolonel, Laurence N LN; Carter, Erin E; Park, Karen K; Le Marchand, Loic L; Van Den Berg, David D; Henderson, Brian E BE; Stram, Daniel O DO

Publication Date: 2013-03

Variant appearance in text: rs45589637

PubMed Link: 23555315

Variant Present in the following documents:

• pgen.1003419.s008.xlsx, sheet 1

View BVdb publication page

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