Li-Fraumeni Syndrome in the Cancer Genomics Era

被引:8
作者
Foulkes, William D. [1 ,2 ]
Polak, Paz [3 ]
机构
[1] McGill Univ, Res Inst, Dept Human Genet, Hlth Ctr, Montreal, PQ, Canada
[2] Lady Davis Inst, Montreal, PQ, Canada
[3] Icahn Sch Med Mt Sinai, Dept Oncol Sci, New York, NY 10029 USA
来源
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE | 2021年 / 113卷 / 12期
关键词
D O I
10.1093/jnci/djab118
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
[No abstract available]
引用
收藏
页码:1615 / 1617
页数:3
相关论文
共 12 条
  • [1] Paired Tumor-Normal Sequencing Provides Insights Into the TP53-Related Cancer Spectrum in Patients With Li-Fraumeni Syndrome
    Ceyhan-Birsoy, Ozge
    Selenica, Pier
    Chui, M. Herman
    Jayakumaran, Gowtham
    Ptashkin, Ryan
    Misyura, Maksym
    Aypar, Umut
    Jairam, Sowmya
    Yang, Ciyu
    Li, Yirong
    Mehta, Nikita
    Kemel, Yelena
    Salo-Mullen, Erin
    Maio, Anna
    Sheehan, Margaret
    Zehir, Ahmet
    Carlo, Maria
    Latham, Alicia
    Stadler, Zsofia
    Robson, Mark
    Offit, Kenneth
    Ladanyi, Marc
    Walsh, Michael
    Reis-Filho, Jorge S.
    Mandelker, Diana
    [J]. JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE, 2021, 113 (12): : 1751 - 1760
  • [2] Prospective pan-cancer germline testing using MSK-IMPACT informs clinical translation in 751 patients with pediatric solid tumors
    Fiala, Elise M.
    Jayakumaran, Gowtham
    Mauguen, Audrey
    Kennedy, Jennifer A.
    Bouvier, Nancy
    Kemel, Yelena
    Fleischut, Megan Harlan
    Maio, Anna
    Salo-Mullen, Erin E.
    Sheehan, Margaret
    Arnold, Angela G.
    Latham, Alicia
    Carlo, Maria I.
    Cadoo, Karen
    Murkherjee, Semanti
    Slotkin, Emily K.
    Trippett, Tanya
    Glade Bender, Julia
    Meyers, Paul A.
    Wexler, Leonard
    Dela Cruz, Filemon S.
    Cheung, Nai-Kong
    Basu, Ellen
    Kentsis, Alex
    Ortiz, Michael
    Francis, Jasmine H.
    Dunkel, Ira J.
    Khakoo, Yasmin
    Gilheeney, Stephen
    Farouk Sait, Sameer
    Forlenza, Christopher J.
    Sulis, Maria
    Karajannis, Matthias
    Modak, Shakeel
    Gerstle, Justin T.
    Heaton, Todd E.
    Roberts, Stephen
    Yang, Ciyu
    Jairam, Sowmya
    Vijai, Joseph
    Topka, Sabine
    Friedman, Danielle N.
    Stadler, Zsofia K.
    Robson, Mark
    Berger, Michael F.
    Schultz, Nikolaus
    Ladanyi, Marc
    O'Reilly, Richard J.
    Abramson, David H.
    Ceyhan-Birsoy, Ozge
    [J]. NATURE CANCER, 2021, 2 (03) : 357 - +
  • [3] Guidelines for the Li-Fraumeni and heritable TP53-related cancer syndromes
    Frebourg, Thierry
    Lagercrantz, Svetlana Bajalica
    Oliveira, Carla
    Magenheim, Rita
    Evans, D. Gareth
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (10) : 1379 - 1386
  • [4] Etiologic Index - A Case-Only Measure of BRCA1/2-Associated Cancer Risk
    Hughley, Raymond
    Karlic, Rosa
    Joshi, Himanshu
    Turnbull, Clare
    Foulkes, William D.
    Polak, Paz
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 2020, 383 (03) : 286 - 288
  • [5] Germline TP53 Mutations and the Changing Landscape of Li-Fraumeni Syndrome
    Kamihara, Junne
    Rana, Huma Q.
    Garber, Judy E.
    [J]. HUMAN MUTATION, 2014, 35 (06) : 654 - 662
  • [6] SOFT-TISSUE SARCOMAS, BREAST CANCER, AND OTHER NEOPLASMS - A FAMILIAL SYNDROME
    LI, FP
    FRAUMENI, JF
    [J]. ANNALS OF INTERNAL MEDICINE, 1969, 71 (04) : 747 - +
  • [7] Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population
    Lim, Elaine T.
    Wuertz, Peter
    Havulinna, Aki S.
    Palta, Priit
    Tukiainen, Taru
    Rehnstrom, Karola
    Esko, Tonu
    Magi, Reedik
    Inouye, Michael
    Lappalainen, Tuuli
    Chan, Yingleong
    Salem, Rany M.
    Lek, Monkol
    Flannick, Jason
    Sim, Xueling
    Manning, Alisa
    Ladenvall, Claes
    Bumpstead, Suzannah
    Hamalainen, Eija
    Aalto, Kristiina
    Maksimow, Mikael
    Salmi, Marko
    Blankenberg, Stefan
    Ardissino, Diego
    Shah, Svati
    Horne, Benjamin
    McPherson, Ruth
    Hovingh, Gerald K.
    Reilly, Muredach P.
    Watkins, Hugh
    Goel, Anuj
    Farrall, Martin
    Girelli, Domenico
    Reiner, Alex P.
    Stitziel, Nathan O.
    Kathiresan, Sekar
    Gabriel, Stacey
    Barrett, Jeffrey C.
    Lehtimaki, Terho
    Laakso, Markku
    Groop, Leif
    Kaprio, Jaakko
    Perola, Markus
    McCarthy, Mark I.
    Boehnke, Michael
    Altshuler, David M.
    Lindgren, Cecilia M.
    Hirschhorn, Joel N.
    Metspalu, Andres
    Freimer, Nelson B.
    [J]. PLOS GENETICS, 2014, 10 (07):
  • [8] A mutational signature reveals alterations underlying deficient homologous recombination repair in breast cancer
    Polak, Paz
    Kim, Jaegil
    Braunstein, Lior Z.
    Karlic, Rosa
    Haradhavala, Nicholas J.
    Tiao, Grace
    Rosebrock, Daniel
    Livitz, Dimitri
    Kubler, Kirsten
    Mouw, Kent W.
    Kamburov, Atanas
    Maruvka, Yosef E.
    Leshchiner, Ignaty
    Lander, Eric S.
    Golub, Todd R.
    Zick, Aviad
    Orthwein, Alexandre
    Lawrence, Michael S.
    Batra, Rajbir N.
    Caldas, Carlos
    Haber, Daniel A.
    Laird, Peter W.
    Shen, Hui
    Ellisen, Leif W.
    D'Andrea, Alan D.
    Chanock, Stephen J.
    Foulkes, William D.
    Getz, Gad
    [J]. NATURE GENETICS, 2017, 49 (10) : 1476 - +
  • [9] Differences in TP53 Mutation Carrier Phenotypes Emerge From Panel-Based Testing
    Rana, Huma Q.
    Gelman, Rebecca
    LaDuca, Holly
    McFarland, Rachel
    Dalton, Emily
    Thompson, Jennifer
    Speare, Virginia
    Dolinsky, Jill S.
    Chao, Elizabeth C.
    Garber, Judy E.
    [J]. JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE, 2018, 110 (08): : 863 - 870
  • [10] Steele CD., 2021, SIGNATURES COPY NUMB, DOI [DOI 10.1101/2021.04.30.441940, 10.1101/2021.04.30.441940]