A novel deleterious c.2656G>T MSH2 germline mutation in a Pakistani family with a phenotypic overlap of hereditary breast and ovarian cancer and Lynch syndrome

被引:0
作者
Muhammad U. Rashid
Humaira Naeemi
Noor Muhammad
Asif Loya
Muhammed A. Yusuf
Jan Lubiński
Anna Jakubowska
Ute Hamann
机构
[1] Basic Sciences Research,Department of Genetics and Pathology
[2] Shaukat Khanum Memorial Cancer Hospital and Research Centre (SKMCH & RC),undefined
[3] Department of Pathology,undefined
[4] SKMCH & RC,undefined
[5] Department of Internal Medicine,undefined
[6] SKMCH & RC,undefined
[7] Pomeranian Medical University,undefined
[8] Molecular Genetics of Breast Cancer,undefined
[9] German Cancer Research Center (DKFZ),undefined
来源
Hereditary Cancer in Clinical Practice | / 14卷
关键词
HNPCC; LS; Endometrial cancer; Hereditary breast and ovarian cancer; Pakistan;
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[1]  
Apostolou P(2013)Hereditary breast cancer: the era of new susceptibility genes Biomed Res Int 2013 747318-1155
[2]  
Fostira F(2014)Establishing a clinical and molecular diagnosis for hereditary colorectal cancer syndromes: Present tense, future perfect? Gastrointest Endosc 80 1145-689
[3]  
Jansen M(1998)Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families Am J Hum Genet 62 676-218
[4]  
Menko FH(1999)Cancer risk in mutation carriers of DNA-mismatch-repair genes Int J Cancer 81 214-421
[5]  
Brosens LA(2005)Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: later age of onset Gastroenterology 129 415-496
[6]  
Giardiello FM(2005)Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainment J Med Genet 42 491-199
[7]  
Offerhaus GJ(2006)A novel MSH2 germline mutation in homozygous state in two brothers with colorectal cancers diagnosed at the age of 11 and 12 years Am J Med Genet A 140 195-162
[8]  
Ford D(2007)Society of Gynecologic Oncologists Education Committee statement on risk assessment for inherited gynecologic cancer predispositions Gynecol Oncol 107 159-449
[9]  
Easton DF(2008)The risk of extra-colonic, extra-endometrial cancer in the Lynch syndrome Int J Cancer 123 444-172
[10]  
Stratton M(2008)Gene-related cancer spectrum in families with hereditary non-polyposis colorectal cancer (HNPCC) Fam Cancer 7 163-1080