Publications:

Genetic Analysis of Lung Cancer and the Germline Impact on Somatic Mutation Burden.

Journal Of The National Cancer Institute

Gabriel, Aurélie A G AAG; Atkins, Joshua R JR; Penha, Ricardo C C RCC; Smith-Byrne, Karl K; Gaborieau, Valerie V; Voegele, Catherine C; Abedi-Ardekani, Behnoush B; Milojevic, Maja M; Olaso, Robert R; Meyer, Vincent V; Boland, Anne A; Deleuze, Jean François JF; Zaridze, David D; Mukeriya, Anush A; Swiatkowska, Beata B; Janout, Vladimir V; Schejbalová, Miriam M; Mates, Dana D; Stojšić, Jelena J; Ognjanovic, Miodrag M; , ; Witte, John S JS; Rashkin, Sara R SR; Kachuri, Linda L; Hung, Rayjean J RJ; Kar, Siddhartha S; Brennan, Paul P; Sertier, Anne-Sophie AS; Ferrari, Anthony A; Viari, Alain A; Johansson, Mattias M; Amos, Christopher I CI; Foll, Matthieu M; McKay, James D JD

Publication Date: 2022-08-08

Variant appearance in text: rs7487683

PubMed Link: 35511172

Variant Present in the following documents:

• Main text
• djac087.pdf

View BVdb publication page

Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer

Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC

Publication Date: 2021-05-29

Variant appearance in text: RAD52: 467+269G>A; rs7487683

PubMed Link: 34051734

Variant Present in the following documents:

• 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1

View BVdb publication page

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: rs7487683

PubMed Link: 30385747

Variant Present in the following documents:

• 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

Whole-exome sequencing of Finnish hereditary breast cancer families.

European Journal Of Human Genetics : Ejhg

Määttä, Kirsi K; Rantapero, Tommi T; Lindström, Anna A; Nykter, Matti M; Kankuri-Tammilehto, Minna M; Laasanen, Satu-Leena SL; Schleutker, Johanna J

Publication Date: 2016-01

Variant appearance in text: rs7487683

PubMed Link: 27782108

Variant Present in the following documents:

• Main text

View BVdb publication page

Unique DNA repair gene variations and potential associations with the primary antibody deficiency syndromes IgAD and CVID.

Plos One

Offer, Steven M SM; Pan-Hammarström, Qiang Q; Hammarström, Lennart L; Harris, Reuben S RS

Publication Date: 2010-08-18

Variant appearance in text: rs7487683

PubMed Link: 20805886

Variant Present in the following documents:

• Main text
• pone.0012260.s005.pdf
• pone.0012260.s004.pdf
• pone.0012260.pdf

View BVdb publication page