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.

PubWeight™: 0.75‹?›

🔗 View Article (PMID 27413415)

Published in Hered Cancer Clin Pract on July 12, 2016

Authors

Muhammad U Rashid1, Humaira Naeemi1, Noor Muhammad1, Asif Loya2, Muhammed A Yusuf3, Jan Lubiński4, Anna Jakubowska4, Ute Hamann5

Author Affiliations

1: Basic Sciences Research, Shaukat Khanum Memorial Cancer Hospital and Research Centre (SKMCH & RC), Lahore, Pakistan.
2: Department of Pathology, SKMCH & RC, Lahore, Pakistan.
3: Department of Internal Medicine, SKMCH & RC, Lahore, Pakistan.
4: Department of Genetics and Pathology, Pomeranian Medical University, Polabska 4, 70-115 Szczecin, Poland.
5: Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 580, 69120 Heidelberg, Germany.

Articles cited by this

Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet (1998) 15.09

Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst (2004) 14.97

New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology (1999) 11.94

The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Dis Colon Rectum (1991) 9.82

Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer (1999) 6.73

A National Cancer Institute Workshop on Hereditary Nonpolyposis Colorectal Cancer Syndrome: meeting highlights and Bethesda guidelines. J Natl Cancer Inst (1997) 5.68

Triple negative tumours: a critical review. Histopathology (2008) 4.94

Extracolonic cancer in hereditary nonpolyposis colorectal cancer. Cancer (1993) 3.86

Risks of colorectal and other cancers after endometrial cancer for women with Lynch syndrome. J Natl Cancer Inst (2013) 3.06

The risk of extra-colonic, extra-endometrial cancer in the Lynch syndrome. Int J Cancer (2008) 2.95

Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: later age of onset. Gastroenterology (2005) 2.80

Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainment. J Med Genet (2005) 2.45

Hereditary nonpolyposis colorectal cancer in 95 families: differences and similarities between mutation-positive and mutation-negative kindreds. Am J Hum Genet (2000) 2.29

Colorectal and other cancer risks for carriers and noncarriers from families with a DNA mismatch repair gene mutation: a prospective cohort study. J Clin Oncol (2012) 2.22

Society of Gynecologic Oncologists Education Committee statement on risk assessment for inherited gynecologic cancer predispositions. Gynecol Oncol (2007) 2.20

Molecular screening for hereditary nonpolyposis colorectal cancer: a prospective, population-based study. J Clin Oncol (2001) 1.97

Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium 'care for CMMRD' (C4CMMRD). J Med Genet (2014) 1.58

Gene-related cancer spectrum in families with hereditary non-polyposis colorectal cancer (HNPCC). Fam Cancer (2007) 1.45

Male breast cancer in the hereditary nonpolyposis colorectal cancer syndrome. Breast Cancer Res Treat (1999) 1.35

Lynch syndrome-associated breast cancers: clinicopathologic characteristics of a case series from the colon cancer family registry. Clin Cancer Res (2010) 1.32

Mutation analysis of MLH1 and MSH2 genes performed by denaturing high-performance liquid chromatography. J Biochem Biophys Methods (2002) 1.30

Suspected hereditary nonpolyposis colorectal cancer: International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC) criteria and results of genetic diagnosis. Dis Colon Rectum (1999) 1.29

Interactions of human hMSH2 with hMSH3 and hMSH2 with hMSH6: examination of mutations found in hereditary nonpolyposis colorectal cancer. Mol Cell Biol (1998) 1.25

Germline truncating mutations in both MSH2 and BRCA2 in a single kindred. Br J Cancer (2004) 1.17

Incidence of colorectal cancer in BRCA1 and BRCA2 mutation carriers: results from a follow-up study. Br J Cancer (2013) 1.17

Phenotype comparison of MLH1 and MSH2 mutation carriers in a cohort of 1,914 individuals undergoing clinical genetic testing in the United States. Cancer Epidemiol Biomarkers Prev (2008) 1.16

Suspected HNPCC and Amsterdam criteria II: evaluation of mutation detection rate, an international collaborative study. Int J Colorectal Dis (2002) 1.09

Mismatch repair defective breast cancer in the hereditary nonpolyposis colorectal cancer syndrome. Breast Cancer Res Treat (2009) 1.05

Prevalence of BRCA1 and BRCA2 mutations in Pakistani breast and ovarian cancer patients. Int J Cancer (2006) 1.01

BRCA germline mutations in women with uterine serous carcinoma--still a debate. Int J Gynecol Cancer (2010) 1.01

Hereditary breast cancer: the era of new susceptibility genes. Biomed Res Int (2013) 1.01

Frequency of extracolonic tumors in Brazilian families with Lynch syndrome: analysis of a hereditary colorectal cancer institutional registry. Fam Cancer (2010) 0.99

Clinicopathologic profile of breast cancer patients in Pakistan: ten years data of a local cancer hospital. Asian Pac J Cancer Prev (2012) 0.89

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 (2006) 0.88

Correspondence re: A. Müller et al., Exclusion of breast cancer as an integral tumor of hereditary nonpolyposis colorectal cancer. Cancer Res., 62: 1014-1019, 2002. Cancer Res (2003) 0.88

Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort. J Med Genet (2015) 0.88

Screening for genomic rearrangements in BRCA1 and BRCA2 genes in Czech high-risk breast/ovarian cancer patients: high proportion of population specific alterations in BRCA1 gene. Breast Cancer Res Treat (2010) 0.87

Constitutional CHEK2 mutations are infrequent in early-onset and familial breast/ovarian cancer patients from Pakistan. BMC Cancer (2013) 0.83

Deleterious RAD51C germline mutations rarely predispose to breast and ovarian cancer in Pakistan. Breast Cancer Res Treat (2014) 0.81

Double heterozygosity for BRCA1 and hMLH1 gene mutations in a 46-year-old woman with five primary tumors. Tech Coloproctol (2013) 0.80

Lynch syndrome (HNPCC). Hered Cancer Clin Pract (2008) 0.79

Identification of a one-base germline deletion (codon 888 del C) and an intron splice acceptor site polymorphism in hMSH2. Hum Mutat (1997) 0.79

Establishing a clinical and molecular diagnosis for hereditary colorectal cancer syndromes: Present tense, future perfect? Gastrointest Endosc (2014) 0.77

Hereditary Colorectal Cancer: Genetics and Screening. Surg Clin North Am (2015) 0.77