The study of Lynch syndrome in a special population reveals a strong founder effect and an unusual mutational mechanism in familial adenomatous polyposis

被引:3
作者
Siraj, Abdul K. [1 ]
Masoodi, Tariq [1 ]
Bu, Rong [1 ]
Parvathareddy, Sandeep Kumar [1 ]
Siraj, Sarah [1 ]
Alassiri, Ali [2 ]
Al-Dayel, Fouad [3 ]
Alkuraya, Fowzan S. [4 ]
Al-Kuraya, Khawla S. [1 ]
机构
[1] King Faisal Specialist Hosp & Res Ctr, Human Canc Genom Res, Riyadh 11431, Saudi Arabia
[2] King Faisal Specialist Hosp & Res Ctr, Dept Pediat Surg, Riyadh, Saudi Arabia
[3] King Faisal Specialist Hosp & Res Ctr, Dept Pathol, Riyadh, Saudi Arabia
[4] King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh, Saudi Arabia
关键词
D O I
10.1136/gutjnl-2019-320511
中图分类号
R57 [消化系及腹部疾病];
学科分类号
摘要
引用
收藏
页码:2048 / U145
页数:2
相关论文
共 10 条
  • [1] Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis
    Adam, Ronja
    Spier, Isabel
    Zhao, Bixiao
    Kloth, Michael
    Marquez, Jonathan
    Hinrichsen, Inga
    Kirfel, Jutta
    Tafazzoli, Aylar
    Horpaopan, Sukanya
    Uhlhaas, Siegfried
    Stienen, Dietlinde
    Friedrichs, Nicolaus
    Altmueller, Janine
    Laner, Andreas
    Holzapfel, Stefanie
    Peters, Sophia
    Kayser, Katrin
    Thiele, Holger
    Holinski-Feder, Elke
    Marra, Giancarlo
    Kristiansen, Glen
    Noethen, Markus M.
    Buettner, Reinhard
    Moeslein, Gabriela
    Betz, Regina C.
    Brieger, Angela
    Lifton, Richard P.
    Aretz, Stefan
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2016, 99 (02) : 337 - 351
  • [2] Screening for the Lynch syndrome (Hereditary nonpolyposis colorectal cancer).
    Hampel, H
    Frankel, WL
    Martin, E
    Arnold, M
    Khanduja, K
    Kuebler, P
    Nakagawa, H
    Sotamaa, K
    Prior, TW
    Westman, J
    Panescu, J
    Fix, D
    Lockman, J
    Comeras, I
    de la Chapelle, A
    Ellison, C
    Melvin, S
    Winston, J
    Adeli, A
    Burak, W
    Chadwick, R
    Elkhatib, I
    Hemingway, T
    Jamieson, K
    Johnson, C
    LaJeunesse, J
    Liyanarachchi, S
    Rangel, P
    Soble, D
    Walker, M
    Wise, T
    Zhang, Y
    Schlanger, R
    Aguilar, P
    Hura, D
    Keith, J
    Kerner, B
    Lavalle, G
    Taylor, C
    Vara, T
    Zangmeister, J
    DeVictor, S
    Hines, L
    Lindsey, M
    Madhavan, J
    Padmanabhan, A
    Hamelberg, K
    Niemann, T
    Behrens, BC
    Blair, SC
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 2005, 352 (18) : 1851 - 1860
  • [3] Precision Medicine in Children and Young Adults with Hematologic Malignancies and Blood Disorders: The Columbia University Experience
    Marks, Lianna J.
    Oberg, Jennifer A.
    Pendrick, Danielle
    Sireci, Anthony N.
    Glasser, Chana
    Coval, Carrie
    Zylber, Rebecca J.
    Chung, Wendy K.
    Pang, Jiuhong
    Turk, Andrew T.
    Hsiao, Susan J.
    Mansukhani, Mahesh M.
    Bender, Julia L. Glade
    Kung, Andrew L.
    Sulis, Maria Luisa
    [J]. FRONTIERS IN PEDIATRICS, 2017, 5
  • [4] Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database
    Moller, Pal
    Seppala, Toni T.
    Bernstein, Inge
    Holinski-Feder, Elke
    Sala, Paulo
    Evans, D. Gareth
    Lindblom, Annika
    Macrae, Finlay
    Blanco, Ignacio
    Sijmons, Rolf H.
    Jeffries, Jacqueline
    Vasen, Hans F. A.
    Burn, John
    Nakken, Sigve
    Hovig, Eivind
    Rodland, Einar Andreas
    Tharmaratnam, Kukatharmini
    Cappel, Wouter H. de Vos Tot Nederveen
    Hill, James
    Wijnen, Juul T.
    Jenkins, Mark A.
    Green, Kate
    Lalloo, Fiona
    Sunde, Lone
    Mints, Miriam
    Bertario, Lucio
    Pineda, Marta
    Navarro, Matilde
    Morak, Monika
    Renkonen-Sinisalo, Laura
    Valentin, Mev Dominguez
    Frayling, Ian M.
    Plazzer, John-Paul
    Pylvanainen, Kirsi
    Genuardi, Maurizio
    Mecklin, Jukka-Pekka
    Moeslein, Gabriela
    Sampson, Julian R.
    Capella, Gabriel
    [J]. GUT, 2018, 67 (07) : 1306 - 1316
  • [5] Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population
    Monies, Dorota
    Abouelhoda, Mohammed
    Assoum, Mirna
    Moghrabi, Nabil
    Rafiullah, Rafiullah
    Almontashiri, Naif
    Alowain, Mohammed
    Alzaidan, Hamad
    Alsayed, Moeen
    Subhani, Shazia
    Cupler, Edward
    Faden, Maha
    Alhashem, Amal
    Qari, Alya
    Chedrawi, Aziza
    Aldhalaan, Hisham
    Kurdi, Wesam
    Khan, Sameena
    Rahbeeni, Zuhair
    Alotaibi, Maha
    Goljan, Ewa
    Elbardisy, Hadeel
    ElKalioby, Mohamed
    Shah, Zeeshan
    Alruwaili, Hibah
    Jaafar, Amal
    Albar, Ranad
    Akilan, Asma
    Tayeb, Hamsa
    Tahir, Asma
    Fawzy, Mohammed
    Nasr, Mohammed
    Makki, Shaza
    Alfaifi, Abdullah
    Akleh, Hanna
    Yamani, Suad
    Bubshait, Dalal
    Mahnashi, Mohammed
    Basha, Talal
    Alsagheir, Afaf
    Abu Khaled, Musad
    Alsaleem, Khalid
    Almugbel, Maisoon
    Badawi, Manal
    Bashiri, Fahad
    Bohlega, Saeed
    Sulaiman, Raashida
    Tous, Ehab
    Ahmed, Syed
    Algoufi, Talal
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2019, 104 (06) : 1182 - 1201
  • [6] Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation
    Monies, Dorota
    Maddirevula, Sateesh
    Kurdi, Wesam
    Alanazy, Mohammed H.
    Alkhalidi, Hisham
    Al-Owain, Mohammed
    Sulaiman, Raashda A.
    Faqeih, Eissa
    Goljan, Ewa
    Ibrahim, Niema
    Abdulwahab, Firdous
    Hashem, Mais
    Abouelhoda, Mohamed
    Shaheen, Ranad
    Arold, Stefan T.
    Alkuraya, Fowzan S.
    [J]. GENETICS IN MEDICINE, 2017, 19 (10) : 1144 - 1150
  • [7] Implementation of next generation sequencing into pediatric hematologyoncology practice: moving beyond actionable alterations
    Oberg, Jennifer A.
    Bender, Julia L. Glade
    Sulis, Maria Luisa
    Pendrick, Danielle
    Sireci, Anthony N.
    Hsiao, Susan J.
    Turk, Andrew T.
    Dela Cruz, Filemon S.
    Hibshoosh, Hanina
    Remotti, Helen
    Zylber, Rebecca J.
    Pang, Jiuhong
    Diolaiti, Daniel
    Koval, Carrie
    Andrews, Stuart J.
    Garvin, James H.
    Yamashiro, Darrell J.
    Chung, Wendy K.
    Emerson, Stephen G.
    Nagy, Peter L.
    Mansukhani, Mahesh M.
    Kung, Andrew L.
    [J]. GENOME MEDICINE, 2016, 8
  • [8] Role of DNA mismatch repair defects in the pathogenesis of human cancer
    Peltomäki, P
    [J]. JOURNAL OF CLINICAL ONCOLOGY, 2003, 21 (06) : 1174 - 1179
  • [9] Prevalence of Lynch syndrome in a Middle Eastern population with colorectal cancer
    Siraj, Abdul K.
    Prabhakaran, Sarita
    Bavi, Prashant
    Bu, Rong
    Beg, Shaham
    Al Hazmi, Mohsen
    Al-Rasheed, Maha
    Al-Assiri, Mohammed
    Sairafi, Rami
    Al-Dayel, Fouad
    Al-Sanea, Nasser
    Uddin, Shahab
    Al-Kuraya, Khawla S.
    [J]. CANCER, 2015, 121 (11) : 1762 - 1771
  • [10] Germline deletions in the EPCAM gene as a cause of Lynch syndrome - literature review
    Tutlewska, Katarzyna
    Lubinski, Jan
    Kurzawski, Grzegorz
    [J]. HEREDITARY CANCER IN CLINICAL PRACTICE, 2013, 11