Lynch Syndrome Variants of Uncertain Significance: Evidence Towards Reclassification

被引：0
|
作者：
Weiss, Jennifer M.
Stettner, Amy
Reichelderfer, Mark
机构：
来源：
GASTROENTEROLOGY | 2014年 / 146卷 / 05期
关键词：
D O I：
暂无
中图分类号：
R57 [消化系及腹部疾病];
学科分类号：
摘要：
Tu1899
引用
收藏
页码：S867 / S867
页数：1
相关论文
共 50 条
  • [31] Understanding genetic variants of uncertain significance
    Joynt, Alyssa C. M.
    Axford, Michelle M.
    Chad, Lauren
    Costain, Gregory
    PAEDIATRICS & CHILD HEALTH, 2022, 27 (01) : 10 - 11
  • [32] Reclassification of BRCA1 and BRCA2 variants of uncertain significance: a multifactorial analysis of multicentre prospective cohort
    Lee, Jee-Soo
    Oh, Sohee
    Park, Sue Kyung
    Lee, Min-Hyuk
    Lee, Jong Won
    Kim, Sung-Won
    Son, Byung Ho
    Noh, Dong-Young
    Lee, Jeong Eon
    Park, Hai-Lin
    Kim, Man Jin
    Cho, Sun Im
    Lee, Young Kyung
    Park, Sung Sup
    Seong, Moon-Woo
    JOURNAL OF MEDICAL GENETICS, 2018, 55 (12) : 794 - 802
  • [33] Physician interpretation of variants of uncertain significance
    Macklin, Sarah K.
    Jackson, Jessica L.
    Atwal, Paldeep S.
    Hines, Stephanie L.
    FAMILIAL CANCER, 2019, 18 (01) : 121 - 126
  • [34] Physician interpretation of variants of uncertain significance
    Sarah K. Macklin
    Jessica L. Jackson
    Paldeep S. Atwal
    Stephanie L. Hines
    Familial Cancer, 2019, 18 : 121 - 126
  • [35] Electroencephalographic normal variants or with uncertain significance
    Berenguer-Sanchez, Mauricio J.
    Gutierrez-Manjarrez, Francisco
    Senties-Madrid, Horacio
    Estanol-Vidal, Bruno
    REVISTA DE NEUROLOGIA, 2012, 54 (07) : 435 - 444
  • [36] Variants of uncertain significance in prenatal microarrays
    Mardy, Anne H.
    Sparks, Teresa N.
    Wiita, Arun P.
    Drexler, Kathryn
    Wayman, Brette V.
    Nadel, Allan
    Norton, Mary E.
    AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY, 2019, 220 (01) : S572 - S573
  • [37] Functional Data Drive Reclassification of Variants of Uncertain Significance in Cancer Predisposition Genes Identified in Adult Genetics Clinic Patients
    McEwen, A.
    Gupta, P.
    Conner, E.
    Jose, M.
    Starita, L.
    Stergachis, A.
    Shirts, B.
    JOURNAL OF MOLECULAR DIAGNOSTICS, 2024, 26 (11): : S18 - S18
  • [38] Variants of Uncertain Significance and "Missing Pathogenicity"
    Fatkin, Diane
    Johnson, Renee
    JOURNAL OF THE AMERICAN HEART ASSOCIATION, 2020, 9 (03):
  • [39] A putative Lynch syndrome family carrying MSH2 and MSH6 variants of uncertain significance-functional analysis reveals the pathogenic one
    Kantelinen, Jukka
    Hansen, Thomas V. O.
    Kansikas, Minttu
    Krogh, Lotte Nylandsted
    Korhonen, Mari K.
    Ollila, Saara
    Nystrom, Minna
    Gerdes, Anne-Marie
    Kariola, Reetta
    FAMILIAL CANCER, 2011, 10 (03) : 515 - 520
  • [40] Lynch Syndrome-associated Genomic Variants
    Botea, Robert
    Piron-Dumitrascu, Madalina
    Georgescu, Tiberiu Augustin
    Bohiltea, Camil Laurentiu
    Voinea, Silviu Cristian
    Varlas, Valentin Nicolae
    Iacoban, Simona Raluca
    Suciu, Nicolae
    JOURNAL OF GASTROINTESTINAL AND LIVER DISEASES, 2024, 33 (03) : 339 - 347
12345