Association of Inherited Mutations in DNA Repair Genes with Localized Prostate Cancer

Autor: Lee, Daniel J., Hausler, Ryan, Le, Anh N., Kelly, Gregory, Powers, Jacquelyn, Ding, James, Feld, Emily, Desai, Heena, Morrison, Casey, Doucette, Abigail, Gabriel, Peter, Genetics Center, Regeneron, Judy, Renae L., Weaver, Joellen, Kember, Rachel, Damrauer, Scott M., Rader, Daniel J., Domchek, Susan M., Narayan, Vivek, Schwartz, Lauren E., Maxwell, Kara N.

Publikováno v: In European Urology June 2022 81(6):559-567

Multi-ethnic heterozygote frequencies of cancer susceptibility genes to inform counseling of reproductive risk

Autor: Verma, Anurag, Verma, Shefali S., Bradford, Yuki, Brock, Ashlei, DerOhannessian, Stephanie, Dudek, Scott, Dunn, Joseph, Drivas, Theodore, Haubein, Ned, Hu-Sain, Khadijah, Judy, Renae, Kloter, Ashley, Ko, Yi-An, Livingstone, Meghan, Morrel, Linda, Morse, Colleen, Poindexter, Afiya, Risman, Marjorie, Tran, Teo, Vadivieso, Fred, Weaver, JoEllen, Rader, Daniel J., Ritchie, Marylyn D., Feldman, Michael D., Beechert, Christina, Forsythe, Caitlin, Fuller, Erin D., Gu, Zhenhua, Lattari, Michael, Lopez, Alexander, Overton, John D., Padilla, Maria Sotiropoulos, Pradhan, Manasi, Manoochehri, Kia, Schleicher, Thomas D., Widom, Louis, Wolf, Sarah E., Ulloa, Ricardo H., Averitt, Amelia, Banerjee, Nilanjana, Cantor, Michael, Li, Dadong, Malhotra, Sameer, Sharma, Deepika, MHI, Staples, Jeffrey, Bai, Xiaodong, Balasubramanian, Suganthi, Bao, Suying, Boutkov, Boris, Chen, Siying, Eom, Gisu, Habegger, Lukas, Hawes, Alicia, Khalid, Shareef, Krasheninina, Olga, Lanche, Rouel, Mansfield, Adam J., Maxwell, Evan K., Mitra, George, Nafde, Mona, O’Keeffe, Sean, Orelus, Max, B, Panea, Razvan, Polanco, Tommy, Rasool, Ayesha, Reid, Jeffrey G., Salerno, William, Staples, Jeffrey C., Sun, Kathie, Abecasis, Goncalo, Backman, Joshua, Damask, Amy, Dobbyn, Lee, Revez Ferreira, Manuel Allen, Ghosh, Arkopravo, Gillies, Christopher, Gurski, Lauren, Jorgenson, Eric, Kang, Hyun Min, Kessler, Michael, Kosmicki, Jack, Li, Alexander, Lin, Nan, Liu, Daren, Locke, Adam, Marchini, Jonathan, Marcketta, Anthony, Mbatchou, Joelle, Moscati, Arden, Paulding, Charles, Sidore, Carlo, Stahl, Eli, Watanabe, Kyoko, Ye, Bin, Zhang, Blair, Ziyatdinov, Andrey, Ayer, Ariane, Guvenek, Aysegul, Hindy, George, Coppola, Giovanni, Freudenberg, Jan, Bovijn, Jonas, Siminovitch, Katherine, Praveen, Kavita, Lotta, Luca A., Kapoor, Manav, Haas, Mary, Riaz, Moeen, Verweij, Niek, Sosina, Olukayode, Akbari, Parsa, Nakka, Priyanka, Gelfman, Sahar, Gokhale, Sujit, De, Tanima, Rajagopal, Veera, Tzoneva, Gannie, Rodriguez-Flores, Juan, Chen, Esteban, Jones, Marcus B., LeBlanc, Michelle G., Mighty, Jason, Mitnaul, Lyndon J., Nishtala, Nirupama, Rana, Nadia, Hernandez, Jaimee, Baras, Aris, Deubler, Andrew, Economides, Aris, Shuldiner, Alan, Powers, Jacquelyn ¹, Wachtel, Heather ², Trujillo, Erica ¹, Desai, Heena ¹, Hausler, Ryan ¹, Conway, Laura ³, Wubbenhorst, Bradley ⁴, Domchek, Susan M. ^{1, 5}, Nathanson, Katherine L. ^{3, 4, 5}, Maxwell, Kara N. ^{1, 3, 5, 6, ∗}

Publikováno v: In Genetics in Medicine January 2025 27(1)

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Germline pathogenic variants in 786 neuroblastoma patients

Autor: Kim, Jung, Vaksman, Zalman, Egolf, Laura E., Kaufman, Rebecca, Evans, J. Perry, Conkrite, Karina L., Danesh, Arnavaz, Lopez, Gonzalo, Randall, Michael P., Dent, Maiah H., Farra, Lance M., Menghani, Neil, Dymek, Malwina, Desai, Heena, Hausler, Ryan, Auvil, Jaime Guidry, Gerhard, Daniela S., Hakonarson, Hakon, Maxwell, Kara N., Cole, Kristina A., Pugh, Trevor J., Bosse, Kristopher R., Khan, Javed, Wei, Jun S., Maris, John M., Stewart, Douglas R., Diskin, Sharon J.

Publikováno v: medRxiv

ImportanceNeuroblastoma accounts for 12% of childhood cancer deaths. The genetic contribution of rare pathogenic germline variation in patients without a family history remains unclear.ObjectiveTo define the prevalence, spectrum, and clinical signifi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::127894e5d03f89c1a3e0debe454437be
https://europepmc.org/articles/PMC9901064/

A Rare Co-existent Case of Splenic Microfilariasis and Pancreatic Solid Pseudopapillary Epithelial Neoplasm - A Double Jeopardy!

Autor: Kini, Sangeeta, Kamat, Rima N., Janjal, Sneha, Desai, Heena M.

Publikováno v: International Journal of Applied & Basic Medical Research; Apr-Jun2024, Vol. 14 Issue 2, p131-133, 3p