Publications:

Non-BRCA1/BRCA2 high-risk familial breast cancers are not associated with a high prevalence of BRCAness.

Breast Cancer Research : Bcr

Andersen, Lars V B LVB; Larsen, Martin J MJ; Davies, Helen H; Degasperi, Andrea A; Nielsen, Henriette Roed HR; Jensen, Louise A LA; Kroeldrup, Lone L; Gerdes, Anne-Marie AM; Lænkholm, Anne-Vibeke AV; Kruse, Torben A TA; Nik-Zainal, Serena S; Thomassen, Mads M

Publication Date: 2023-06-14

Variant appearance in text: NOTCH1: 3859C>T; R1287C

PubMed Link: 37316882

Variant Present in the following documents:

• 13058_2023_1655_MOESM9_ESM.xlsx, sheet 1

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A generalizable machine learning framework for classifying DNA repair defects using ctDNA exomes.

Npj Precision Oncology

Ritch, Elie J EJ; Herberts, Cameron C; Warner, Evan W EW; Ng, Sarah W S SWS; Kwan, Edmond M EM; Bacon, Jack V W JVW; Bernales, Cecily Q CQ; Schönlau, Elena E; Fonseca, Nicolette M NM; Giri, Veda N VN; Maurice-Dror, Corinne C; Vandekerkhove, Gillian G; Jones, Steven J M SJM; Chi, Kim N KN; Wyatt, Alexander W AW

Publication Date: 2023-03-13

Variant appearance in text: NOTCH1: R1287C

PubMed Link: 36914848

Variant Present in the following documents:

• 41698_2023_366_MOESM2_ESM.xlsx, sheet 4

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Molecular characterization of acquired resistance to KRAS G12C-EGFR inhibition in colorectal cancer.

Cancer Discovery

Yaeger, Rona R; Mezzadra, Riccardo R; Sinopoli, Jenna J; Bian, Yu Y; Marasco, Michelangelo M; Kaplun, Esther E; Gao, Yijun Y; Zhao, HuiYong H; Da Cruz Paula, Arnaud A; Zhu, Yingjie Y; Chaves Perez, Almudena A; Chadalavada, Kalyani K; Tse, Edison E; Chowdhry, Sudhir S; Bowker, Sydney S; Chang, Qing Q; Qeriqi, Besnik B; Weigelt, Britta B; Nanjangud, Gouri J GJ; Berger, Michael F MF; Der-Torossian, Hirak H; Anderes, Kenna K; Socci, Nicholas D ND; Shia, Jinru J; Riely, Gregory J GJ; Murciano-Goroff, Yonina R YR; Li, Bob T BT; Christensen, James G JG; Reis-Filho, Jorge S JS; Solit, David B DB; de Stanchina, Elisa E; Lowe, Scott W SW; Rosen, Neal N; Misale, Sandra S

Publication Date: 2022-11-10

Variant appearance in text: NOTCH1: R1287C

PubMed Link: 36355783

Variant Present in the following documents:

• 41.pdf

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Contribution of NOTCH1 genetic variants to bicuspid aortic valve and other congenital lesions.

Heart (British Cardiac Society)

Debiec, Radoslaw Marek RM; Hamby, Stephen E SE; Jones, Peter D PD; Safwan, Kassem K; Sosin, Michael M; Hetherington, Simon Lee SL; Sprigings, David D; Sharman, David D; Lee, Kelvin K; Salahshouri, Pegah P; Wheeldon, Nigel N; Chukwuemeka, Andrew A; Boutziouka, Vasiliki V; Elamin, Mohamed M; Coolman, Sue S; Asiani, Manish M; Kharodia, Shireen S; Skinner, Gregory J GJ; Samani, Nilesh J NJ; Webb, Tom R TR; Bolger, Aidan P AP

Publication Date: 2022-06-24

Variant appearance in text: NOTCH1: 3859C>T; Arg1287Cys; rs751275854

PubMed Link: 35288444

Variant Present in the following documents:

• heartjnl-2021-320428supp001.pdf

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Exome sequencing reveals aberrant signalling pathways as hallmark of treatment-naive anal squamous cell carcinoma.

Oncotarget

Cacheux, Wulfran W; Dangles-Marie, Virginie V; Rouleau, Etienne E; Lazartigues, Julien J; Girard, Elodie E; Briaux, Adrien A; Mariani, Pascale P; Richon, Sophie S; Vacher, Sophie S; Buecher, Bruno B; Richard-Molard, Marion M; Jeannot, Emmanuelle E; Servant, Nicolas N; Farkhondeh, Fereshteh F; Mariani, Odette O; Rio-Frio, Thomas T; Roman-Roman, Sergio S; Mitry, Emmanuel E; Bieche, Ivan I; Lièvre, Astrid A

Publication Date: 2018-01-02

Variant appearance in text: NOTCH1: 3859C>T; R1287C

PubMed Link: 29416628

Variant Present in the following documents:

• Main text
• oncotarget-09-464.pdf

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