Search Results - "Farncombe, Kirsten"

Clinical implementation of genetic testing in adults for hereditary hematologic malignancy syndromes by Ansar, Safa, Malcolmson, Janet, Farncombe, Kirsten M., Yee, Karen, Kim, Raymond H., Sibai, Hassan

“…As research on hereditary hematologic malignancy syndromes (HHMS) are accumulating, cancer genetics clinics are identifying more adult hematology patients with…”
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LZTR1 molecular genetic overlap with clinical implications for Noonan syndrome and schwannomatosis by Farncombe, Kirsten M, Thain, Emily, Barnett-Tapia, Carolina, Sadeghian, Hamid, Kim, Raymond H

“…Noonan syndrome (NS) is a genetic disorder characterized by developmental delays, typical facial gestalt and cardiovascular defects. LZTR1 variants have been…”
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Oncologist-led germline genetic testing for uveal melanoma by Gillies, Brittany, Krema, Hatem, Chao, Anning, Lando, Leonardo, Farncombe, Kirsten M, Butler, Marcus, Altomare, Filiberto, Kim, Raymond H

“…To report the genotype and phenotype of a cohort of unselected uveal melanoma (UM) patients who had germline multi-gene panel genetic testing, including the…”
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Large scale genotype‐ and phenotype‐driven machine learning in Von Hippel‐Lindau disease by Chiorean, Andreea, Farncombe, Kirsten M., Delong, Sean, Andric, Veronica, Ansar, Safa, Chan, Clarissa, Clark, Kaitlin, Danos, Arpad M., Gao, Yizhuo, Giles, Rachel H., Goldenberg, Anna, Jani, Payal, Krysiak, Kilannin, Kujan, Lynzey, Macpherson, Samantha, Maher, Eamonn R., McCoy, Liam G., Salama, Yasser, Saliba, Jason, Sheta, Lana, Griffith, Malachi, Griffith, Obi L., Erdman, Lauren, Ramani, Arun, Kim, Raymond H.

“…Von Hippel‐Lindau (VHL) disease is a hereditary cancer syndrome where individuals are predisposed to tumor development in the brain, adrenal gland, kidney, and…”
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Germline whole genome sequencing in adults with multiple primary tumors by Wang, Yiming, Ding, Qiliang, Prokopec, Stephenie, Farncombe, Kirsten M., Bruce, Jeffrey, Casalino, Selina, McCuaig, Jeanna, Szybowska, Marta, van Engelen, Kalene, Lerner-Ellis, Jordan, Pugh, Trevor J., Kim, Raymond H.

“…Multiple primary tumors (MPTs) are a harbinger of hereditary cancer syndromes. Affected individuals often fit genetic testing criteria for a number of…”
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Early Cancer Detection in Li-Fraumeni Syndrome with Cell-Free DNA by Wong, Derek, Luo, Ping, Oldfield, Leslie E, Gong, Haifan, Brunga, Ledia, Rabinowicz, Ron, Subasri, Vallijah, Chan, Clarissa, Downs, Tiana, Farncombe, Kirsten M, Luu, Beatrice, Norman, Maia, Sobotka, Julia A, Uju, Precious, Eagles, Jenna, Pedersen, Stephanie, Wellum, Johanna, Danesh, Arnavaz, Prokopec, Stephenie D, Stutheit-Zhao, Eric Y, Znassi, Nadia, Heisler, Lawrence E, Jovelin, Richard, Lam, Bernard, Lujan Toro, Beatriz E, Marsh, Kayla, Sundaravadanam, Yogi, Torti, Dax, Man, Carina, Goldenberg, Anna, Xu, Wei, Veit-Haibach, Patrick, Doria, Andrea S, Malkin, David, Kim, Raymond H, Pugh, Trevor J

“…People with Li-Fraumeni syndrome (LFS) harbor a germline pathogenic variant in the TP53 tumor suppressor gene, face a near 100% lifetime risk of cancer, and…”
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Current and new frontiers in hereditary cancer surveillance: Opportunities for liquid biopsy by Farncombe, Kirsten M., Wong, Derek, Norman, Maia L., Oldfield, Leslie E., Sobotka, Julia A., Basik, Mark, Bombard, Yvonne, Carile, Victoria, Dawson, Lesa, Foulkes, William D., Malkin, David, Karsan, Aly, Parkin, Patricia, Penney, Lynette S., Pollett, Aaron, Schrader, Kasmintan A., Pugh, Trevor J., Kim, Raymond H., Aguilar-Mahecha, Adriana, Aronson, Melyssa, Basik, Mark, Baxter, Nancy N., Bedard, Phil, Berman, Hal, Bernardini, Marcus Q., Bombard, Yvonne, Carile, Victoria, Chan, Clarissa F., Cil, Tulin, Clarke, Blaise, Dawson, Lesa, Dhalla, Irfan, Elser, Christine, Ene, Gabrielle EV, Farncombe, Kirsten M., Ferguson, Sarah, Foulkes, William D., Genge, Laura, Gryfe, Robert, Jacobson, Michelle R., Karsan, Aly, Kastner, Monika, Kaurah, Pardeep, Kim, Raymond H., Lafleur, Josiane, Lerner-Ellis, Jordan, Lheureux, Stephanie, MacDonald, Shelley M., McCuaig, Jeanna, Mckee, Brian, Mittmann, Nicole, Norman, Maia L., Oldfield, Leslie E., Panchal, Seema, Penney, Lynette S., Piccinin, Carolyn, Pollett, Aaron, Pugh, Trevor J., Regier, Dean, Rezoug, Zoulikha, Rideout, Krista, Schrader, Kasmintan A., Semotiuk, Kara, Singh, Sara, Siu, Lillian, Sobotka, Julia A., Sun, Sophie, Thain, Emily, Wallace, Karin, Ward, Thomas, Westergard, Shelley, Whittle, Stacy, Xu, Wei, Yu, Celeste

“…At least 5% of cancer diagnoses are attributed to a causal pathogenic or likely pathogenic germline genetic variant (hereditary cancer syndrome—HCS). These…”
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CIViCdb 2022: evolution of an open-access cancer variant interpretation knowledgebase by Krysiak, Kilannin, Danos, Arpad M, Saliba, Jason, McMichael, Joshua F, Coffman, Adam C, Kiwala, Susanna, Barnell, Erica K, Sheta, Lana, Grisdale, Cameron J, Kujan, Lynzey, Pema, Shahil, Lever, Jake, Ridd, Sarah, Spies, Nicholas C, Andric, Veronica, Chiorean, Andreea, Rieke, Damian T, Clark, Kaitlin A, Reisle, Caralyn, Venigalla, Ajay C, Evans, Mark, Jani, Payal, Takahashi, Hideaki, Suda, Avila, Horak, Peter, Ritter, Deborah I, Zhou, Xin, Ainscough, Benjamin J, Delong, Sean, Kesserwan, Chimene, Lamping, Mario, Shen, Haolin, Marr, Alex R, Hoang, My H, Singhal, Kartik, Khanfar, Mariam, Li, Brian V, Lin, Wan-Hsin, Terraf, Panieh, Corson, Laura B, Salama, Yasser, Campbell, Katie M, Farncombe, Kirsten M, Ji, Jianling, Zhao, Xiaonan, Xu, Xinjie, Kanagal-Shamanna, Rashmi, King, Ian, Cotto, Kelsy C, Skidmore, Zachary L, Walker, Jason R, Zhang, Jinghui, Milosavljevic, Aleksandar, Patel, Ronak Y, Giles, Rachel H, Kim, Raymond H, Schriml, Lynn M, Mardis, Elaine R, Jones, Steven J M, Raca, Gordana, Rao, Shruti, Madhavan, Subha, Wagner, Alex H, Griffith, Malachi, Griffith, Obi L

“…CIViC (Clinical Interpretation of Variants in Cancer; civicdb.org) is a crowd-sourced, public domain knowledgebase composed of literature-derived evidence…”
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"I just wanted more": Hereditary cancer syndromes patients' perspectives on the utility of circulating tumour DNA testing for cancer screening by Adi-Wauran, Ella, Clausen, Marc, Shickh, Salma, Gagliardi, Anna R, Denburg, Avram, Oldfield, Leslie E, Sam, Jordan, Reble, Emma, Krishnapillai, Suvetha, Regier, Dean A, Baxter, Nancy N, Dawson, Lesa, Penney, Lynette S, Foulkes, William, Basik, Mark, Sun, Sophie, Schrader, Kasmintan A, Karsan, Aly, Pollett, Aaron, Pugh, Trevor J, Kim, Raymond H, Bombard, Yvonne

“…Hereditary cancer syndromes (HCS) predispose individuals to a higher risk of developing multiple cancers. However, current screening strategies have limited…”
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A Model for the Integration of Genome Sequencing Into a Pediatric Cardiology Clinic by Liston, Eriskay J., Kalbfleisch, Kelsey J., Stanley, Kaitlin J., Chaturvedi, Rajiv R., Cohn, Iris, Farncombe, Kirsten M., Hayeems, Robin Z., Schwartz, Marci L.B., Somerville, Cherith B., Kim, Raymond H., Jobling, Rebekah K.

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Developing a disease-specific annotation protocol for VHL gene curation using Hypothes.is by Salehipour, Dena, Farncombe, Kirsten M, Andric, Veronica, Ansar, Safa, Delong, Sean, Li, Eric, Macpherson, Samantha, Ridd, Sarah, Ritter, Deborah I, Thaxton, Courtney, Kim, Raymond H

“…Abstract Von Hippel–Lindau (VHL) disease is a rare, autosomal dominant disorder that predisposes individuals to developing tumors in many organs. There is…”
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VHL mosaicism: the added value of multi-tissue analysis by Oldfield, Leslie E., Grzybowski, Jessica, Grenier, Sylvie, Chao, Elizabeth, Downs, Gregory S., Farncombe, Kirsten M., Stockley, Tracy L., Mete, Ozgur, Kim, Raymond H.

“…Von Hippel-Lindau disease (VHL) is an autosomal dominant, inherited syndrome with variants in the VHL gene causing predisposition to multi-organ benign and…”
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GeneTerpret: a customizable multilayer approach to genomic variant prioritization and interpretation by Manshaei, Roozbeh, DeLong, Sean, Andric, Veronica, Joshi, Esha, Okello, John B A, Dhir, Priya, Somerville, Cherith, Farncombe, Kirsten M, Kalbfleisch, Kelsey, Jobling, Rebekah K, Scherer, Stephen W, Kim, Raymond H, Hosseini, S Mohsen

“…Variant interpretation is the main bottleneck in medical genomic sequencing efforts. This usually involves genome analysts manually searching through a…”
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Incidental findings from cancer next generation sequencing panels by Maani, Nika, Panabaker, Karen, McCuaig, Jeanna M., Buckley, Kathleen, Semotiuk, Kara, Farncombe, Kirsten M., Ainsworth, Peter, Panchal, Seema, Sadikovic, Bekim, Armel, Susan Randall, Lin, Hanxin, Kim, Raymond H.

“…Next-generation sequencing (NGS) technologies have facilitated multi-gene panel (MGP) testing to detect germline DNA variants in hereditary cancer patients…”
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The evolving role of germline genetic testing and management in prostate cancer: Report from the Princess Margaret Cancer Centre international retreat by Clark, Roderick, Kenk, Miran, McAlpine, Kristen, Thain, Emily, Farncombe, Kirsten M, Pritchard, Colin C, Nussbaum, Robert, Wyatt, Alexander W, de Bono, Johann, Vesprini, Danny, Bombard, Yvonne, Lorentz, Justin, Narod, Steven, Kim, Raymond, Fleshner, Neil

“…Prostate cancer is a significant cause of cancer mortality. It has been well-established that certain germline pathogenic variants confer both an increased…”
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P087: Integrated analysis of cell-free DNA for the detection of malignant peripheral nerve sheath tumors in patients with neurofibromatosis type 1 by Wong, Derek, Luo, Ping, Pederson, Stephanie, Chan, Clarissa, Farncombe, Kirsten, Norman, Maia, Oldfield, Leslie E., Kim, Raymond, Pugh, Trevor

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P084: Clinical integration of potential germline findings from a tumor testing precision medicine program by Sanabria-Salas, Maria Carolina, Anggala, Nina, Gillies, Brittany, Purnaghshband, Helia, Farncombe, Kirsten, Peck, Larissa, Redondo, Laura, Sabatini, Peter, Hofstedter, Renee, Bedard, Philippe, Kim, Raymond

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Early-onset renal cell carcinoma in PTEN harmatoma tumour syndrome by Kim, Raymond H., Wang, Xiangling, Evans, Andrew J., Campbell, Steven C., Nguyen, Jane K., Farncombe, Kirsten M., Eng, Charis

“…Individuals with PTEN hamartoma tumour syndrome (PHTS), including Cowden syndrome (CS), are susceptible to multiple benign hamartomas and an increased risk of…”
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P103: Operationalizing structured curated scientific literature (CIViC and Hypothesis) in developing gene-specific recommendations of the ClinGen VHL Variant Curation Expert Panel by Ritter, Deborah, Badduke, Chansonette, Anderson, Michael, Danos, Arpad, Doonanco, Kurston, Farncombe, Kirsten, Gallinger, Bailey, Giles, Rachel, Griffith, Malachi, Griffith, Obi, Horton, Carolyn, Hruska, Kathleen, Kang, Hio Chung, Krysiak, Kilannin, Luo, Minjie, Machado, Jerry, Maher, Eamonn, McGoldrick, Kelly, Pesaran, Tina, Pipko, Neta, Ridd, Sarah, Saliba, Jason, Sheen, Clare, Kim, Raymond

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P054: Creation of the Ontario Hereditary Cancer Research Network (OHCRN) by Hughes, Lauren, Farncombe, Kirsten, Brazas, Michelle, Aronson, Melyssa, Bell, Kathleen, Chan, Brandon, Eisen, Andrea, Feilotter, Harriet, Gallinger, Bailey, Lerner-Ellis, Jordan, Malkin, David, MacDougall, Ellen, Narod, Steven, Panabaker, Karen, Pugh, Trevor, Sawyer, Sarah, Rusnak, Alison, Vaags, Andrea, Radvanyi, Laszlo, Stein, Lincoln, Kim, Raymond

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