Search Results - "Petljak, Mia"

Molecular origins of APOBEC-associated mutations in cancer by Petljak, Mia, Maciejowski, John

“…The APOBEC family of cytidine deaminases has been proposed to represent a major enzymatic source of mutations in cancer. Here, we summarize available evidence…”
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Genome-wide chemical mutagenesis screens allow unbiased saturation of the cancer genome and identification of drug resistance mutations by Brammeld, Jonathan S, Petljak, Mia, Martincorena, Inigo, Williams, Steven P, Alonso, Luz Garcia, Dalmases, Alba, Bellosillo, Beatriz, Robles-Espinoza, Carla Daniela, Price, Stacey, Barthorpe, Syd, Tarpey, Patrick, Alifrangis, Constantine, Bignell, Graham, Vidal, Joana, Young, Jamie, Stebbings, Lucy, Beal, Kathryn, Stratton, Michael R, Saez-Rodriguez, Julio, Garnett, Mathew, Montagut, Clara, Iorio, Francesco, McDermott, Ultan

“…Drug resistance is an almost inevitable consequence of cancer therapy and ultimately proves fatal for the majority of patients. In many cases, this is the…”
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Understanding mutagenesis through delineation of mutational signatures in human cancer by Petljak, Mia, Alexandrov, Ludmil B

“…Each individual cell within a human body acquires a certain number of somatic mutations during a course of its lifetime. These mutations originate from a wide…”
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Addressing the benefits of inhibiting APOBEC3-dependent mutagenesis in cancer by Petljak, Mia, Green, Abby M., Maciejowski, John, Weitzman, Matthew D.

“…Mutational signatures associated with apolipoprotein B mRNA-editing enzyme catalytic polypeptide-like (APOBEC)3 cytosine deaminase activity have been found in…”
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Mechanisms of APOBEC3 mutagenesis in human cancer cells by Petljak, Mia, Dananberg, Alexandra, Chu, Kevan, Bergstrom, Erik N., Striepen, Josefine, von Morgen, Patrick, Chen, Yanyang, Shah, Hina, Sale, Julian E., Alexandrov, Ludmil B., Stratton, Michael R., Maciejowski, John

“…The APOBEC3 family of cytosine deaminases has been implicated in some of the most prevalent mutational signatures in cancer 1 – 3 . However, a causal link…”
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Mapping clustered mutations in cancer reveals APOBEC3 mutagenesis of ecDNA by Bergstrom, Erik N., Luebeck, Jens, Petljak, Mia, Khandekar, Azhar, Barnes, Mark, Zhang, Tongwu, Steele, Christopher D., Pillay, Nischalan, Landi, Maria Teresa, Bafna, Vineet, Mischel, Paul S., Harris, Reuben S., Alexandrov, Ludmil B.

“…Clustered somatic mutations are common in cancer genomes and previous analyses reveal several types of clustered single-base substitutions, which include…”
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Characterizing Mutational Signatures in Human Cancer Cell Lines Reveals Episodic APOBEC Mutagenesis by Petljak, Mia, Alexandrov, Ludmil B., Brammeld, Jonathan S., Price, Stacey, Wedge, David C., Grossmann, Sebastian, Dawson, Kevin J., Ju, Young Seok, Iorio, Francesco, Tubio, Jose M.C., Koh, Ching Chiek, Georgakopoulos-Soares, Ilias, Rodríguez–Martín, Bernardo, Otlu, Burçak, O’Meara, Sarah, Butler, Adam P., Menzies, Andrew, Bhosle, Shriram G., Raine, Keiran, Jones, David R., Teague, Jon W., Beal, Kathryn, Latimer, Calli, O’Neill, Laura, Zamora, Jorge, Anderson, Elizabeth, Patel, Nikita, Maddison, Mark, Ng, Bee Ling, Graham, Jennifer, Garnett, Mathew J., McDermott, Ultan, Nik-Zainal, Serena, Campbell, Peter J., Stratton, Michael R.

“…Multiple signatures of somatic mutations have been identified in cancer genomes. Exome sequences of 1,001 human cancer cell lines and 577 xenografts revealed…”
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Association of a germline copy number polymorphism of APOBEC3A and APOBEC3B with burden of putative APOBEC-dependent mutations in breast cancer by Nik-Zainal, Serena, Wedge, David C, Alexandrov, Ludmil B, Petljak, Mia, Butler, Adam P, Bolli, Niccolo, Davies, Helen R, Knappskog, Stian, Martin, Sancha, Papaemmanuil, Elli, Ramakrishna, Manasa, Shlien, Adam, Simonic, Ingrid, Xue, Yali, Tyler-Smith, Chris, Campbell, Peter J, Stratton, Michael R

“…Mike Stratton and colleague show that carriers of a germline copy number polymorphism involving APOBEC3A and APOBEC3B , which has been associated with…”
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Genome sequencing of normal cells reveals developmental lineages and mutational processes by Behjati, Sam, Huch, Meritxell, van Boxtel, Ruben, Karthaus, Wouter, Wedge, David C., Tamuri, Asif U., Martincorena, Iñigo, Petljak, Mia, Alexandrov, Ludmil B., Gundem, Gunes, Tarpey, Patrick S., Roerink, Sophie, Blokker, Joyce, Maddison, Mark, Mudie, Laura, Robinson, Ben, Nik-Zainal, Serena, Campbell, Peter, Goldman, Nick, van de Wetering, Marc, Cuppen, Edwin, Clevers, Hans, Stratton, Michael R.

“…On the basis of whole-genome sequences of clonal lines derived from normal mouse tissues, variation in mutational patterns and load across different tissues…”
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APOBEC Mutagenesis in Cancer Development and Susceptibility by Dananberg, Alexandra, Striepen, Josefine, Rozowsky, Jacob S, Petljak, Mia

“…APOBEC cytosine deaminases are prominent mutators in cancer, mediating mutations in over 50% of cancers. APOBEC mutagenesis has been linked to tumor…”
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Somatic mutations reveal asymmetric cellular dynamics in the early human embryo by Ju, Young Seok, Martincorena, Inigo, Gerstung, Moritz, Petljak, Mia, Alexandrov, Ludmil B., Rahbari, Raheleh, Wedge, David C., Davies, Helen R., Ramakrishna, Manasa, Fullam, Anthony, Martin, Sancha, Alder, Christopher, Patel, Nikita, Gamble, Steve, O’Meara, Sarah, Giri, Dilip D., Sauer, Torril, Pinder, Sarah E., Purdie, Colin A., Borg, Åke, Stunnenberg, Henk, van de Vijver, Marc, Tan, Benita K. T., Caldas, Carlos, Tutt, Andrew, Ueno, Naoto T., van ’t Veer, Laura J., Martens, John W. M., Sotiriou, Christos, Knappskog, Stian, Span, Paul N., Lakhani, Sunil R., Eyfjörd, Jórunn Erla, Børresen-Dale, Anne-Lise, Richardson, Andrea, Thompson, Alastair M., Viari, Alain, Hurles, Matthew E., Nik-Zainal, Serena, Campbell, Peter J., Stratton, Michael R.

“…Whole-genome sequencing of normal blood cells sampled from 241 adults is used to infer mosaic point mutations that are likely to have arisen during early…”
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POT1 loss-of-function variants predispose to familial melanoma by Robles-Espinoza, Carla Daniela, Harland, Mark, Ramsay, Andrew J, Aoude, Lauren G, Quesada, Víctor, Ding, Zhihao, Pooley, Karen A, Pritchard, Antonia L, Tiffen, Jessamy C, Petljak, Mia, Palmer, Jane M, Symmons, Judith, Johansson, Peter, Stark, Mitchell S, Gartside, Michael G, Snowden, Helen, Montgomery, Grant W, Martin, Nicholas G, Liu, Jimmy Z, Choi, Jiyeon, Makowski, Matthew, Brown, Kevin M, Dunning, Alison M, Keane, Thomas M, López-Otín, Carlos, Gruis, Nelleke A, Hayward, Nicholas K, Bishop, D Timothy, Newton-Bishop, Julia A, Adams, David J

“…David Adams, Julia Newton-Bishop, Timothy Bishop, Nicholas Hayward and colleagues identify loss-of-function variants in POT1 in several families with early…”
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Tissue-Biased Expansion of DNMT3A-Mutant Clones in a Mosaic Individual Is Associated with Conserved Epigenetic Erosion by Tovy, Ayala, Reyes, Jaime M., Gundry, Michael C., Brunetti, Lorenzo, Lee-Six, Henry, Petljak, Mia, Park, Hyun Jung, Guzman, Anna G., Rosas, Carina, Jeffries, Aaron R., Baple, Emma, Mill, Jonathan, Crosby, Andrew H., Sency, Valerie, Xin, Baozhong, Machado, Heather E., Castillo, Danielle, Weitzel, Jeffrey N., Li, Wei, Stratton, Michael R., Campbell, Peter J., Wang, Heng, Sanders, Mathijs A., Goodell, Margaret A.

“…DNA methyltransferase 3A (DNMT3A) is the most commonly mutated gene in clonal hematopoiesis (CH). Somatic DNMT3A mutations arise in hematopoietic stem cells…”
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Mosaic DNMT3A Germline Mutation As a Model for Mutant DNMT3A Competitive Advantage in the Blood Lineage by Tovy, Ayala, Park, Hyun Jung, Reyes, Jaime M., Guzman, Anna, Rau, Rachel E., Jeffries, Aaron, Jonnathan, Mill, Baple, Emma, Crosby, Andrew, Petljak, Mia, Lee-Six, Henry, Wang, Heng, Baozhong, Xin, Sanders, Mathijs A., Campbell, Peter J., Stratton, Michael, Li, Wei, Goodell, Margaret

“…The DNA Methyltransferase 3A (DNMT3A) gene is recurrently mutated in a large spectrum of hematologic malignancies, including acute myeloid leukemia (AML)…”
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Biological and Prognostic Impact of Apobec-Induced Mutations in the Spectrum of Plasma Cell Dyscrasias by Maura, Francesco, Petljak, Mia, Lionetti, Marta, Cifola, Ingrid, Liang, Winnie, Pinatel, Eva, Alexadrov, Ludmil, Fullam, Anthony, Martincorena, Inigo, Dawson, Kevin J, Angelopoulos, Nicos, Szalat, Raphael, Corradini, Paolo, Anderson, Kenneth C, Minvielle, Stephane, Samur, Mehmet K., Neri, Antonino, Avet-Loiseau, Hervé, Keats, Jonathan, Campbell, Peter J, Munshi, Nikhil, Bolli, Niccolò

“…In multiple myeloma (MM), whole exome sequencing (WES) studies have revealed four mutational signatures: two associated with aberrant activities of APOBEC…”
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Germline TERT promoter mutations are rare in familial melanoma by Harland, Mark, Petljak, Mia, Robles-Espinoza, Carla Daniela, Ding, Zhihao, Gruis, Nelleke A., van Doorn, Remco, Pooley, Karen A., Dunning, Alison M., Aoude, Lauren G., Wadt, Karin A. W., Gerdes, Anne-Marie, Brown, Kevin M., Hayward, Nicholas K., Newton-Bishop, Julia A., Adams, David J., Bishop, D. Timothy

“…Germline CDKN2A mutations occur in 40 % of 3-or-more case melanoma families while mutations of CDK4 , BAP1 , and genes involved in telomere function ( ACD,…”
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Biological and prognostic impact of APOBEC-induced mutations in the spectrum of plasma cell dyscrasias and multiple myeloma cell lines: APOBEC Activity in Multiple Myeloma by Maura, Francesco, Petljak, Mia, Lionetti, Marta, Cifola, Ingrid, Liang, Winnie, Pinatel, Eva, Alexandrov, Ludmil, Fullam, Anthony, Martincorena, Inigo, Dawson, Kevin J, Angelopoulos, Nicos, Samur, Mehmet Kemal, Szalat, Raphael, Zamora, Jorge, Tarpey, Patrick, Davies, Helen, Corradini, Paolo, Anderson, Kenneth, Minvielle, Stéphane, Neri, Antonino, Avet-Loiseau, Herve, Keats, Jonathan J, Campbell, Peter J, Munshi, Nikhil, Bolli, Niccolo

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Abstract 20: POT1 mutations predispose to familial melanoma by Robles-Espinoza, Carla Daniela, Harland, Mark, Ramsay, Andrew J., Aoude, Lauren G., Quesada, Victor, Ding, Zhihao, Pooley, Karen A., Pritchard, Antonia L., Tiffen, Jessamy C., Petljak, Mia, Palmer, Jane M., Symmons, Judith, Johansson, Peter, Stark, Mitchell S., Gartside, Michael G., Snowden, Helen, Montgomery, Grant W., Martin, Nicholas G., Liu, Jimmy Z., Choi, Jiyeon, Makowski, Matthew, Brown, Kevin M., Dunning, Alison M., Keane, Thomas M., Lopez-Otin, Carlos, Gruis, Nelleke A., Hayward, Nicholas K., Bishop, D. Timothy, Newton-Bishop, Julia A., Adams, David J.

“…Abstract Mutations in CDKN2A account for approximately 40% of familial melanoma cases, and rare mutations in CDK4, BRCA2, BAP1 and in the promoter of TERT also…”
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