SNP association study in PMS2-associated Lynch syndrome
نویسندگان
چکیده
منابع مشابه
Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2
Lynch syndrome, caused by germline mutations in the mismatch repair genes, is associated with increased cancer risk. Here using a large whole-genome sequencing data bank, cancer registry and colorectal tumour bank we determine the prevalence of Lynch syndrome, associated cancer risks and pathogenicity of several variants in the Icelandic population. We use colorectal cancer samples from 1,182 p...
متن کاملHaematuria in association with Lynch syndrome
A 40-year-old Caucasian male presented to the Emergency Department complaining of intermittent painless frank haematuria. Past medical history was significant for Hereditary Non-Polyposis Colon Cancer (HNPCC) and a prophylactic total colectomy. Computed tomography urogram showed thickening in the posterior wall of the bladder. Cystoscopy showed a small bladder mass. Histology showed a papillary...
متن کاملAssociation between Lynch syndrome and renal carcinoma.
We read with interest the study published by Ferrer et al. about a patient with Lynch syndrome (LS) who presented a colorectal carcinoma (CRC) and a synchronous clear cell renal carcinoma (CCRC) (1). From our point of view, it would be interesting to emphasize some aspects of this patient, such as the type of mutation carried by the patient, and its cancer familial tree. In addition, we would l...
متن کاملMSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer
BACKGROUND Approximately 10% of Lynch syndrome families have a mutation in MSH6 and fewer families have a mutation in PMS2. It is assumed that the cancer incidence is the same in families with mutations in MSH6 as in families with mutations in MLH1/MSH2 but that the disease tends to occur later in life, little is known about families with PMS2 mutations. This study reports on our findings on mu...
متن کاملBiallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome.
BACKGROUND A positive family history, germline mutations in DNA mismatch repair genes, tumours with high microsatellite instability, and loss of mismatch repair protein expression are the hallmarks of hereditary non-polyposis colorectal cancer (Lynch syndrome). However, in ~10-15% of cases of suspected Lynch syndrome, no disease-causing mechanism can be detected. METHODS Oligo array analysis ...
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ژورنال
عنوان ژورنال: Familial Cancer
سال: 2017
ISSN: 1389-9600,1573-7292
DOI: 10.1007/s10689-017-0061-3