Screening families with endometrial and colorectal cancers for germline mutations

被引：13
|
作者：
Liu, Tao [1 ]
Chen, Jindong [1 ]
Salahshor, Sima [1 ]
Kuismanen, Shannon [2 ]
Holmberg, Eva [3 ]
Gronberg, Henrik [4 ]
Peltomaeki, Paeivi [5 ]
Lindblom, Annika [1 ]
机构：
[1] Karolinska Inst, Dept Mol Med, Clin Genet Unit, S-17176 Stockholm, Sweden
[2] Univ Helsinki, Dept Med Genet, Haartman Inst, FIN-00290 Helsinki, Finland
[3] Umea Univ Hosp, Dept Clin Genet, S-90185 Umea, Sweden
[4] Umea Univ Hosp, Dept Oncol, S-90185 Umea, Sweden
[5] Ohio State Univ, Ctr Comprehens Canc, Columbus, OH 43210 USA
来源：
JOURNAL OF MEDICAL GENETICS | 2001年 / 38卷 / 09期
基金：
芬兰科学院;
关键词：
D O I：
10.1136/jmg.38.9.e29
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页数：5
相关论文
共 50 条
  • [21] Colorectal cancer in Lynch syndrome families: consequences of gene germline mutations and the gut microbiota
    Wang, Xuexin
    Zheng, Zhijun
    Yu, Dongliang
    Qiu, Xiaojue
    Yang, Ting
    Li, Ruoran
    Liu, Jing
    Wang, Xin
    Jin, Peng
    Sheng, Jianqiu
    Qin, Nan
    Li, Na
    Xu, Junfeng
    ORPHANET JOURNAL OF RARE DISEASES, 2025, 20 (01)
  • [22] Immediate germline sequencing is superior to multi-step screening strategies for identifying lynch syndrome in women with synchronous/metachronous endometrial and colorectal cancers
    Chao, Angel
    Lai, Chyong-Huey
    Wu, Ren-Chin
    INTERNATIONAL JOURNAL OF GYNECOLOGICAL CANCER, 2023, 33 (SUPPL_4) : A25 - A25
  • [23] Screening for germline mutations in families at-risk for hereditary breast cancer in Southern Brazil
    Palmero, E. I.
    Hainaut, P.
    Camey, S. A.
    Filho, C. M.
    da Cunha, D. R.
    dos Santos, P. K.
    Cossio, S. L.
    Schuler-Faccini, L.
    Caleffi, M.
    Ashton-Prolla, P.
    JOURNAL OF CLINICAL ONCOLOGY, 2008, 26 (15)
  • [24] Screening for germline CHEK2 mutations in Spanish families with hereditary cancer suspicion
    del Valle, J.
    Vargas-Parra, G.
    Rofes, P.
    Gausachs, M.
    Stradella, A.
    Montes, E.
    Darder, E.
    Feliubadalo, L.
    Brunet, J.
    Lazaro, C.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 1551 - 1552
  • [25] Cost-utility analysis of genetic screening in families of patients with germline MUTYH mutations
    Nielsen, Maartje
    Hes, Frederik J.
    Vasen, Hans F. A.
    van den Hout, Wilbert B.
    BMC MEDICAL GENETICS, 2007, 8
  • [26] Prevalence of germline MMR gene mutations in French kindreds with HNPCC or aggregation of colorectal cancers.
    Wang, Q
    Lasset, C
    Desseigne, F
    Ruano, E
    Navarro, C
    Montmain, G
    Puisieux, A
    AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (04) : 88 - 88
  • [27] Germline Mutations and Polymorphisms in the Origins of Cancers in Women
    Hirshfield, Kim M.
    Rebbeck, Timothy R.
    Levine, Arnold J.
    JOURNAL OF ONCOLOGY, 2010, 2010
  • [28] Low prevalence of germline hMSH6 mutations in colorectal cancer families from Spain
    Ana Sánchez de Abajo
    Miguel de la Hoya
    Alicia Tosar
    Javier Godino
    Juan Manuel Fernández
    Jose Lopez Asenjo
    Beatriz Perez Villamil
    Pedro Perez Segura
    Eduardo Diaz-Rubio
    Trinidad Caldes
    World Journal of Gastroenterology, 2005, (37) : 5770 - 5776
  • [29] Low prevalence of germline hMSH6 mutations in colorectal cancer families from Spain
    Sanchez de Abajo, Ana
    de la Hoya, Miguel
    Tosar, Alicia
    Godino, Javier
    Manuel Fernandez, Juan
    Lopez Asenjo, Jose
    Perez Villamil, Beatriz
    Perez Segura, Pedro
    Diaz-Rubio, Eduardo
    Caldes, Trinidad
    WORLD JOURNAL OF GASTROENTEROLOGY, 2005, 11 (37) : 5770 - 5776
  • [30] Colon and Endometrial Cancers With Mismatch Repair Deficiency Can Arise From Somatic, Rather Than Germline, Mutations
    Haraldsdottir, Sigurdis
    Hampel, Heather
    Tomsic, Jerneja
    Frankel, Wendy L.
    Pearlman, Rachel
    de la Chapelle, Albert
    Pritchard, Colin C.
    GASTROENTEROLOGY, 2014, 147 (06) : 1308 - +
12345