Genetic Testing by Cancer Site Uterus

被引:18
作者
Daniels, Molly S. [1 ]
机构
[1] Univ Texas MD Anderson Canc Ctr, Clin Canc Genet Program, Dept Gynecol Oncol & Reprod Med, Houston, TX 77230 USA
关键词
Lynch syndrome; hereditary nonpolyposis colorectal cancer; PTEN hamartoma; tumor syndrome; Cowden syndrome; hereditary leiomyomatosis and renal cell cancer; NONPOLYPOSIS COLORECTAL-CANCER; RENAL-CELL CANCER; FUMARATE HYDRATASE MUTATIONS; AUTISM SPECTRUM DISORDERS; GERMLINE PTEN MUTATIONS; DNA MISMATCH REPAIR; LYNCH-SYNDROME; ENDOMETRIAL CANCER; HEREDITARY LEIOMYOMATOSIS; COWDEN-SYNDROME;
D O I
10.1097/PPO.0b013e3182610cc2
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
This review article discusses hereditary cancer predisposition syndromes with uterine manifestations. Lynch syndrome accounts for 2% to 3% of endometrial cancers. The identification of endometrial cancer patients at risk for Lynch syndrome is discussed, as are the characteristics of Lynch syndrome-associated endometrial cancer and the screening and prevention options for women at risk for Lynch syndrome-associated endometrial cancer. Endometrial cancer associated with PTEN hamartoma tumor syndrome (also known as Cowden syndrome) is also discussed. HLRCC (hereditary leiomyomatosis and renal cell carcinoma), which has an associated high risk of symptomatic uterine leiomyomas, is reviewed.
引用
收藏
页码:338 / 342
页数:5
相关论文
共 58 条
[1]   Clinical features of multiple cutaneous and uterine leiomyomatosis - An underdiagnosed tumor syndrome [J].
Alam, NA ;
Barclay, E ;
Rowan, AJ ;
Tyrer, JP ;
Calonje, E ;
Manek, S ;
Kelsell, D ;
Leigh, I ;
Olpin, S ;
Tomlinson, IPM .
ARCHIVES OF DERMATOLOGY, 2005, 141 (02) :199-206
[2]   Hereditary leiomyomatosis and renal cell carcinoma: very early diagnosis of renal cancer in a paediatric patient [J].
Alrashdi, Ismail ;
Levine, Samantha ;
Paterson, Joan ;
Saxena, Rohit ;
Patel, Soonie R. ;
Depani, Sarita ;
Hargrave, Darren R. ;
Pritchard-Jones, Kathy ;
Hodgson, Shirley V. .
FAMILIAL CANCER, 2010, 9 (02) :239-243
[3]  
[Anonymous], SEER stat fact sheets
[4]   Prospective evaluation of DNA mismatch repair protein expression in primary endometrial cancer [J].
Backes, Floor J. ;
Leon, Marino E. ;
Ivanov, Iouri ;
Suarez, Adrian ;
Frankel, Wendy L. ;
Hampel, Heather ;
Fowler, Jeffrey M. ;
Copeland, Larry J. ;
O'Malley, David M. ;
Cohn, David E. .
GYNECOLOGIC ONCOLOGY, 2009, 114 (03) :486-490
[5]   High cumulative incidence of uterine leiomyoma in black and white women: Ultrasound evidence [J].
Baird, DD ;
Dunson, DB ;
Hill, MC ;
Cousins, D ;
Schectman, JM .
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY, 2003, 188 (01) :100-107
[6]   Prediction of MLH1 and MSH2 mutations in Lynch syndrome [J].
Balmana, Judith ;
Stockwell, David H. ;
Steyerberg, Ewout W. ;
Stoffel, Elena M. ;
Deffenbaugh, Amie M. ;
Reid, Julia E. ;
Ward, Brian ;
Scholl, Thomas ;
Hendrickson, Brant ;
Tazelaar, John ;
Burbidge, Lynn Anne ;
Syngal, Sapna .
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 2006, 296 (12) :1469-1478
[7]   The rate of the predominant Jewish mutations in the BRCA1, BRCA2, MSH2 and MSH6 genes in unselected Jewish endometrial cancer patients [J].
Barak, Frida ;
Milgrom, Roni ;
Laitman, Yael ;
Gemer, Ofer ;
Rabinovich, Alex ;
Piura, Benjamin ;
Anteby, Eyal ;
Ben Baruch, Gilad ;
Korach, Jacob ;
Friedman, Eitan .
GYNECOLOGIC ONCOLOGY, 2010, 119 (03) :511-515
[8]   The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency [J].
Bayley, Jean-Pierre ;
Launonen, Virpi ;
Tomlinson, Ian P. M. .
BMC MEDICAL GENETICS, 2008, 9
[9]   Toward new strategies to select young endometrial cancer patients for mismatch repair gene mutation analysis [J].
Berends, MJW ;
Wu, Y ;
Sijmons, RH ;
van der Sluis, T ;
Ek, WB ;
Ligtenberg, MJL ;
Arts, NJW ;
ten Hoor, KA ;
Kleibeuker, JH ;
de Vries, EGE ;
Mourits, MJE ;
Hollema, H ;
Buys, CHCM ;
Hofstra, RMW ;
van der Zee, AGJ .
JOURNAL OF CLINICAL ONCOLOGY, 2003, 21 (23) :4364-4370
[10]   Evaluation of germline PTEN mutations in endometrial cancer patients [J].
Black, D ;
Bogomolniy, F ;
Robson, ME ;
Offit, K ;
Barakat, RR ;
Boyd, J .
GYNECOLOGIC ONCOLOGY, 2005, 96 (01) :21-24