Population Testing for High Penetrance Genes: Are We There Yet?

被引:7
作者
Wentzensen, Nicolas [1 ]
Berg, Christine D. [1 ]
机构
[1] NCI, Div Canc Epidemiol & Genet, 9609 Med Ctr Dr, Bethesda, MD 20892 USA
来源
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE | 2018年 / 110卷 / 07期
关键词
BRCA2; MUTATIONS; CANCER; OOPHORECTOMY; PREVALENCE; HISTORY; BREAST;
D O I
10.1093/jnci/djx282
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:687 / 689
页数:3
相关论文
共 16 条
  • [1] Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history:: A combined analysis of 22 studies
    Antoniou, A
    Pharoah, PDP
    Narod, S
    Risch, HA
    Eyfjord, JE
    Hopper, JL
    Loman, N
    Olsson, H
    Johannsson, O
    Borg, Å
    Pasini, B
    Radice, P
    Manoukian, S
    Eccles, DM
    Tang, N
    Olah, E
    Anton-Culver, H
    Warner, E
    Lubinski, J
    Gronwald, J
    Gorski, B
    Tulinius, H
    Thorlacius, S
    Eerola, H
    Nevanlinna, H
    Syrjäkoski, K
    Kallioniemi, OP
    Thompson, D
    Evans, C
    Peto, J
    Lalloo, F
    Evans, DG
    Easton, DF
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 72 (05) : 1117 - 1130
  • [2] Hereditary breast cancer: new genetic developments, new therapeutic avenues
    Campeau, Philippe M.
    Foulkes, William D.
    Tischkowitz, Marc D.
    [J]. HUMAN GENETICS, 2008, 124 (01) : 31 - 42
  • [3] Characterization of BRCA1 and BRCA2 mutations in a large United States sample
    Chen, SN
    Iversen, ES
    Friebel, T
    Finkelstein, D
    Weber, BL
    Eisen, A
    Peterson, LE
    Schildkraut, JM
    Isaacs, C
    Peshkin, BN
    Corio, C
    Leondaridis, L
    Tomlinson, G
    Dutsm, D
    Kerber, R
    Amos, CI
    Strong, LC
    Berry, DA
    Euthus, DM
    Parmigiani, G
    [J]. JOURNAL OF CLINICAL ONCOLOGY, 2006, 24 (06) : 863 - 871
  • [4] Higher-than-expected population prevalence of potentially pathogenic germline TP53 variants in individuals unselected for cancer history
    de Andrade, Kelvin Cesar
    Mirabello, Lisa
    Stewart, Douglas R.
    Karlins, Eric
    Koster, Roelof
    Wang, Mingyi
    Gapstur, Susan M.
    Gaudet, Mia M.
    Freedman, Neal D.
    Landi, Maria Teresa
    Lemonnier, Nathanael
    Hainaut, Pierre
    Savage, Sharon A.
    Achatz, Maria Isabel
    [J]. HUMAN MUTATION, 2017, 38 (12) : 1723 - 1730
  • [5] Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR Study
    Dewey, Frederick E.
    Murray, Michael F.
    Overton, John D.
    Habegger, Lukas
    Leader, Joseph B.
    Fetterolf, Samantha N.
    O'Dushlaine, Colm
    Van Hout, Cristopher V.
    Staples, Jeffrey
    Gonzaga-Jauregui, Claudia
    Metpally, Raghu
    Pendergrass, Sarah A.
    Giovanni, Monica A.
    Kirchner, H. Lester
    Balasubramanian, Suganthi
    Abul-Husn, Noura S.
    Hartzel, Dustin N.
    Lavage, Daniel R.
    Kost, Korey A.
    Packer, Jonathan S.
    Lopez, Alexander E.
    Penn, John
    Mukherjee, Semanti
    Gosalia, Nehal
    Kanagaraj, Manoj
    Li, Alexander H.
    Mitnaul, Lyndon J.
    Adams, Lance J.
    Person, Thomas N.
    Praveen, Kavita
    Marcketta, Anthony
    Lebo, Matthew S.
    Austin-Tse, Christina A.
    Mason-Suares, Heather M.
    Bruse, Shannon
    Mellis, Scott
    Phillips, Robert
    Stahl, Neil
    Murphy, Andrew
    Economides, Aris
    Skelding, Kimberly A.
    Still, Christopher D.
    Elmore, James R.
    Borecki, Ingrid B.
    Yancopoulos, George D.
    Davis, F. Daniel
    Faucett, William A.
    Gottesman, Omri
    Ritchie, Marylyn D.
    Shuldiner, Alan R.
    [J]. SCIENCE, 2016, 354 (6319)
  • [6] Impact of Oophorectomy on Cancer Incidence and Mortality in Women With a BRCA1 or BRCA2 Mutation
    Finch, Amy P. M.
    Lubinski, Jan
    Moller, Pal
    Singer, Christian F.
    Karlan, Beth
    Senter, Leigha
    Rosen, Barry
    Maehle, Lovise
    Ghadirian, Parviz
    Cybulski, Cezary
    Huzarski, Tomasz
    Eisen, Andrea
    Foulkes, William D.
    Kim-Sing, Charmaine
    Ainsworth, Peter
    Tung, Nadine
    Lynch, Henry T.
    Neuhausen, Susan
    Metcalfe, Kelly A.
    Thompson, Islay
    Murphy, Joan
    Sun, Ping
    Narod, Steven A.
    [J]. JOURNAL OF CLINICAL ONCOLOGY, 2014, 32 (15) : 1547 - U43
  • [7] The prevalence of DICER1 pathogenic variation in population databases
    Kim, Jung
    Field, Amanda
    Schultz, Kris Ann P.
    Hill, D. Ashley
    Stewart, Douglas R.
    [J]. INTERNATIONAL JOURNAL OF CANCER, 2017, 141 (10) : 2030 - 2036
  • [8] Cost-effectiveness of Universal BRCA1/2 Screening Evidence-Based Decision Making
    Long, Elisa F.
    Ganz, Patricia A.
    [J]. JAMA ONCOLOGY, 2015, 1 (09) : 1217 - 1218
  • [9] Cost-effectiveness of Population-Based BRCA1, BRCA2, RAD51C, RAD51D, BRIP1, PALB2 Mutation Testing in Unselected General Population Women
    Manchanda, Ranjit
    Patel, Shreeya
    Gordeev, Vladimir S.
    Antoniou, Antonis C.
    Smith, Shantel
    Lee, Andrew
    Hopper, John L.
    MacInnis, Robert J.
    Turnbull, Clare
    Ramus, Susan J.
    Gayther, Simon A.
    Pharoah, Paul D. P.
    Menon, Usha
    Jacobs, Ian
    Legood, Rosa
    [J]. JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE, 2018, 110 (07): : 714 - 725
  • [10] Cost-effectiveness of Population Screening for BRCA Mutations in Ashkenazi Jewish Women Compared With Family History-Based Testing
    Manchanda, Ranjit
    Legood, Rosa
    Burnell, Matthew
    McGuire, Alistair
    Raikou, Maria
    Loggenberg, Kelly
    Wardle, Jane
    Sanderson, Saskia
    Gessler, Sue
    Side, Lucy
    Balogun, Nyala
    Desai, Rakshit
    Kumar, Ajith
    Dorkins, Huw
    Wallis, Yvonne
    Chapman, Cyril
    Taylor, Rohan
    Jacobs, Chris
    Tomlinson, Ian
    Beller, Uziel
    Menon, Usha
    Jacobs, Ian
    [J]. JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE, 2015, 107 (01):