Whole-exome sequencing of BRCA-negative breast cancer patients and case-control analyses identify variants associated with breast cancer susceptibility.
Human Genomics
Lee, Ning Yuan NY; Hum, Melissa M; Amali, Aseervatham Anusha AA; Lim, Wei Kiat WK; Wong, Matthew M; Myint, Matthew Khine MK; Tay, Ru Jin RJ; Ong, Pei-Yi PY; Samol, Jens J; Lim, Chia Wei CW; Ang, Peter P; Tan, Min-Han MH; Lee, Soo-Chin SC; Lee, Ann S G ASG
Publication Date: 2022-11-23
Variant appearance in text: KMT2C: R897X; rs772146328
Mutational landscape of marginal zone B-cell lymphomas of various origin: organotypic alterations and diagnostic potential for assignment of organ origin.
Virchows Archiv : An International Journal Of Pathology
Vela, Visar V; Juskevicius, Darius D; Dirnhofer, Stefan S; Menter, Thomas T; Tzankov, Alexandar A
Publication Date: 2022-02
Variant appearance in text: KMT2C: 2689C>T; R897X; rs772146328
Genetic Variants and Tumor Immune Microenvironment: Clues for Targeted Therapies in Inflammatory Breast Cancer (IBC).
International Journal Of Molecular Sciences
Gong, Yulan Y; Nagarathinam, Rajeswari R; Arisi, Maria F MF; Gerratana, Lorenzo L; Winn, Jennifer S JS; Slifker, Michael M; Pei, Jianming J; Cai, Kathy Q KQ; Hasse, Zachary Z; Obeid, Elias E; Noriega, Julio J; Sebastiano, Christopher C; Ross, Eric E; Alpaugh, Katherine K; Cristofanilli, Massimo M; Fernandez, Sandra V SV
Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.
Nature Communications
Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A
Experimental and bioinformatics considerations in cancer application of single cell genomics.
Computational And Structural Biotechnology Journal
Tan, Joanna Hui Juan JHJ; Kong, Say Li SL; Tai, Joyce A JA; Poh, Huay Mei HM; Yao, Fei F; Sia, Yee Yen YY; Lim, Edwin Kok Hao EKH; Takano, Angela Maria AM; Tan, Daniel Shao-Weng DS; Javed, Asif A; Hillmer, Axel M AM
Exploring the biological role of postzygotic and germinal de novo mutations in ASD.
Scientific Reports
Alonso-Gonzalez, A A; Calaza, M M; Amigo, J J; González-Peñas, J J; Martínez-Regueiro, R R; Fernández-Prieto, M M; Parellada, M M; Arango, C C; Rodriguez-Fontenla, Cristina C; Carracedo, A A
Publication Date: 2021-01-11
Variant appearance in text: KMT2C: 2689C>T; Arg897*
Genetic Variants Detected Using Cell-Free DNA from Blood and Tumor Samples in Patients with Inflammatory Breast Cancer.
International Journal Of Molecular Sciences
Winn, Jennifer S JS; Hasse, Zachary Z; Slifker, Michael M; Pei, Jianming J; Arisi-Fernandez, Sebastian M SM; Talarchek, Jacqueline N JN; Obeid, Elias E; Baldwin, Donald A DA; Gong, Yulan Y; Ross, Eric E; Cristofanilli, Massimo M; Alpaugh, R Katherine RK; Fernandez, Sandra V SV
NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers.
Molecular Oncology
Bertucci, François F; Rypens, Charlotte C; Finetti, Pascal P; Guille, Arnaud A; Adélaïde, José J; Monneur, Audrey A; Carbuccia, Nadine N; Garnier, Séverine S; Dirix, Piet P; Gonçalves, Anthony A; Vermeulen, Peter P; Debeb, Bisrat G BG; Wang, Xiaoping X; Dirix, Luc L; Ueno, Naoto T NT; Viens, Patrice P; Cristofanilli, Massimo M; Chaffanet, Max M; Birnbaum, Daniel D; Van Laere, Steven S
Pan-cancer whole-genome analyses of metastatic solid tumours.
Nature
Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E
A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.
Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
De novo MYH9 mutation in congenital scalp hemangioma.
Cold Spring Harbor Molecular Case Studies
Fomchenko, Elena I EI; Duran, Daniel D; Jin, Sheng Chih SC; Dong, Weilai W; Erson-Omay, E Zeynep EZ; Antwi, Prince P; Allocco, August A; Gaillard, Jonathan R JR; Huttner, Anita A; Gunel, Murat M; DiLuna, Michael L ML; Kahle, Kristopher T KT
NF1-mutated melanoma tumors harbor distinct clinical and biological characteristics.
Molecular Oncology
Cirenajwis, Helena H; Lauss, Martin M; Ekedahl, Henrik H; Törngren, Therese T; Kvist, Anders A; Saal, Lao H LH; Olsson, Håkan H; Staaf, Johan J; Carneiro, Ana A; Ingvar, Christian C; Harbst, Katja K; Hayward, Nicholas K NK; Jönsson, Göran G
Mutational landscapes of tongue carcinoma reveal recurrent mutations in genes of therapeutic and prognostic relevance.
Genome Medicine
Vettore, Andre Luiz AL; Ramnarayanan, Kalpana K; Poore, Gregory G; Lim, Kevin K; Ong, Choon Kiat CK; Huang, Kie Kyon KK; Leong, Hui Sun HS; Chong, Fui Teen FT; Lim, Tony Kiat-Hon TK; Lim, Weng Khong WK; Cutcutache, Ioana I; Mcpherson, John R JR; Suzuki, Yuka Y; Zhang, Shenli S; Skanthakumar, Thakshayeni T; Wang, Weining W; Tan, Daniel S W DS; Cho, Byoung Chul BC; Teh, Bin Tean BT; Rozen, Steve S; Tan, Patrick P; Iyer, N Gopalakrishna NG