Abstract:
:Colorectal cancer (CRC) risk associated with germline monoallelic MUTYH mutations remains controversial, although a slightly increased risk for this disease has been suggested. MUTYH and MSH6 proteins act in cooperation during the DNA repair process. Based on this interaction, it was hypothesized that the combination of heterozygote germline mutations in both genes could result in an increased CRC risk. To further clarify the interaction between MUTYH and MSH6, we analyzed the prevalence of MSH6 mutations in a cohort of CRC patients and controls previously tested for MUTYH mutations: CRC patients with and without a monoallelic MUTYH mutation (group I, n = 26; group II, n = 50, respectively), and healthy carriers with a monoallelic MUTYH mutation (group III, n = 21). In group I, we found three patients (11.5%) with MSH6 mutations, a missense mutation (p.R635G), a change in the 3'UTR region (c.*4098A > C) and a nonsense mutation (p.Q982X). In group II and III, no mutations were detected. In CRC patients, MSH6 mutations were more frequently found in MUTYH mutation carriers than in noncarriers (11.5% vs. 0%, P = 0.037). CRC patients carrying monoallelic MUTYH mutations harbor more frequently concomitant MSH6 mutations than patients without them, thus suggesting that both genes could act cooperatively and confer together an increased CRC risk.
journal_name
Fam Cancerjournal_title
Familial cancerauthors
Giráldez MD,Balaguer F,Caldés T,Sanchez-de-Abajo A,Gómez-Fernández N,Ruiz-Ponte C,Muñoz J,Garre P,Gonzalo V,Moreira L,Ocaña T,Clofent J,Carracedo A,Andreu M,Jover R,Llor X,Castells A,Castellví-Bel S,Gastrointestinal Odoi
10.1007/s10689-009-9282-4subject
Has Abstractpub_date
2009-01-01 00:00:00pages
525-31issue
4eissn
1389-9600issn
1573-7292journal_volume
8pub_type
杂志文章相关文献
Familial Cancer文献大全abstract::This multicenter study examined the adherence of high-risk women to screening recommendations for breast and ovarian cancer following consultation at a familial cancer clinic (FCC). Self-report questionnaires assessing recall of screening advice, tests undertaken, risk perception, anxiety (Impact of Events Scale) and ...
journal_title:Familial cancer
pub_type: 杂志文章,多中心研究
doi:10.1007/s10689-006-0006-8
更新日期:2006-01-01 00:00:00
abstract::Li-Fraumeni syndrome (LFS) is an autosomal dominantly inherited cancer predisposition syndrome characterized by a combination of tumors including sarcoma, breast cancer, brain tumors, adrenocortical carcinoma and leukemia. Germline mutations in the tumor suppressor gene TP53 are associated with LFS. We present a famil...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-006-9115-7
更新日期:2007-01-01 00:00:00
abstract::New Zealand Māori have a considerably higher incidence of gastric cancer compared to non-Māori, and are one of the few populations worldwide with a higher prevalence of diffuse-type disease. Pathogenic germline CDH1 mutations are causative of hereditary diffuse gastric cancer, a cancer predisposition syndrome primaril...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-018-0080-8
更新日期:2019-01-01 00:00:00
abstract::Somerset has a relatively high incidence of cancer. The county is very rural with pockets of deprivation and sizeable areas of poor access to services. The Cancer Plan advocates early identification of cancer and identified the genetic revolution as having the potential to predict risk, and detect and diagnose cancer ...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-007-9133-0
更新日期:2007-01-01 00:00:00
abstract::MicroRNAs are a new class of non-proteincoding, small RNAs that function as tumor suppressors or oncogenes. They participate in diverse biological pathways and function as gene regulators. A G>C polymorphism (rs2910164), which is located in the sequence of miR-146a precursor, results in a change from G:U to C:U in its...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-010-9370-5
更新日期:2010-12-01 00:00:00
abstract::Li-Fraumeni Syndrome (LFS) is characterized by risk of multiple primary malignancies in diverse sites, pediatric onset, near complete penetrance by age 70 years, limited options for prevention, and substantial uncertainty regarding disease manifestation and prognosis. Forty-five families, including 117 individuals age...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-020-00173-6
更新日期:2020-07-01 00:00:00
abstract::Following the identification in a proband of a germline BRCA1/BRCA2 mutation in hereditary breast-ovarian cancer (HBOC) or a DNA mismatch repair gene mutation in Lynch syndrome (LS) he or she will be asked to inform at-risk family members about the option for presymptomatic DNA testing. However, in clinical practice m...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-018-0089-z
更新日期:2019-01-01 00:00:00
abstract::The base excision repair protein, MUTYH, functionally interacts with the DNA mismatch repair (MMR) system. As genetic testing moves from testing one gene at a time, to gene panel and whole exome next generation sequencing approaches, understandin g the risk associated with co-existence of germline mutations in these g...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-015-9824-x
更新日期:2015-12-01 00:00:00
abstract::BRCA1 mutations predispose to early-onset breast cancer. We previously reported an association between absence of the common IGF1 19 CA-repeat allele (IGF1-19/-19) and being a BRCA1 mutation carrier in young women from breast cancer high-risk families. Others have reported a four-fold risk of premenopausal breast canc...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-007-9141-0
更新日期:2007-01-01 00:00:00
abstract::Family history of melanoma is a major melanoma risk factor. However, self-reported family histories for some cancers, including melanoma, are commonly inaccurate. We used a unique database, the Utah Population Database (UPDB), as well as the Utah Cancer Registry to determine the accuracy of self-reported family histor...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-020-00187-0
更新日期:2020-05-21 00:00:00
abstract::Assessing adherence behavior among mutation carriers to cancer risk management guidelines is important for both service improvement and cost-effectiveness analyses, but such real-world data is often lacking. The present study aims to report adherence rates among mutation carriers in a recently established cancer genet...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-018-0071-9
更新日期:2018-10-01 00:00:00
abstract::Genetic testing for cancer susceptibility genes is increasingly being integrated into medical care. Test results help inform risks of the individual being tested as well as family members who could benefit from knowing the results. The responsibility for informing relatives of genetic test results falls on the proband...
journal_title:Familial cancer
pub_type: 杂志文章,随机对照试验
doi:10.1007/s10689-016-9889-1
更新日期:2016-10-01 00:00:00
abstract::We recently described a novel g.8097_22733del14637 deletion encompassing exons 3-5 in BRCA1 gene. This rearrangement was detected in 3 of 15 (20 %) breast and/or ovarian cancer families of Eastern Spain. This finding made us suspect that the newly identified deletion could be a founder mutation. To confirm this hypoth...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-012-9579-6
更新日期:2013-03-01 00:00:00
abstract::Hereditary medullary thyroid carcinoma (hereditary MTC) is a rare malignancy, accounting for 25-30% of all MTC. It occurs as part of multiple endocrine neoplasia type 2 (MEN 2). Autosomal dominant gain-of-function mutations in the RET proto-oncogene is the cause of the disease, in which the common mutations are codons...
journal_title:Familial cancer
pub_type: 杂志文章,评审
doi:10.1007/s10689-011-9501-7
更新日期:2012-06-01 00:00:00
abstract::Currently, three prediction models are used to predict a patient's risk of having Lynch syndrome (LS). These models have been validated in probands with colorectal cancer (CRC), but not in probands presenting with endometrial cancer (EMC). Thus, the aim was to determine the performance of these prediction models in wo...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-009-9273-5
更新日期:2009-01-01 00:00:00
abstract::Knowledge about interest in genetic testing and willingness-to-pay for a genetic test among men affected from prostate cancer (PCa) is limited. This study aimed to gain insight into men's attitudes in genetic testing for PCa. 4699 men with PCa from the German multicenter prospective database "Familial Prostate Cancer"...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-018-0101-7
更新日期:2019-04-01 00:00:00
abstract::A new BRCA1 locus product called BRCA1-IRIS has been identified recently. High-risk breast/ovarian families have not been screened for germ-line mutations at the specific BRCA1-IRIS coding sequence, as it was considered merely as part of BRCA1 intron 11. Here we report the first comprehensive screening of germ-line mu...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-005-1236-x
更新日期:2005-01-01 00:00:00
abstract::The rapidly increasing of cancer risk nationwide and worldwide has threatened human health and caused the changes of disease and death spectrum. MicroRNA (MiRNA) as cancer biomarker on susceptibility has enjoyed a high level of concern. This article will discuss the association between miR-146 rs2910164 polymorphism a...
journal_title:Familial cancer
pub_type: 杂志文章,meta分析,评审
doi:10.1007/s10689-017-0056-0
更新日期:2018-07-01 00:00:00
abstract::Clinical practice guidelines discourage pediatric genetic testing for BRCA1/2 mutations due to a lack of timely medical benefit and psychosocial risk. Yet, some high risk families approach primary care providers (PCPs) about testing adolescents, and little is known about PCPs attitudes regarding these requests. We ass...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-009-9243-y
更新日期:2010-03-01 00:00:00
abstract::First-degree relatives of women with breast cancer may experience increased worry or perceived risk when faced with reminders of their own cancer risk. Worry and risk reminders may include physical symptoms (e.g., persistent breast pain) and caregiving experiences. Women who engage in pain catastrophizing may be parti...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-018-0082-6
更新日期:2019-01-01 00:00:00
abstract:BACKGROUND:Colorectal cancers resulting from defective DNA mismatch repair can occur in both hereditary non-polyposis colon cancer (HNPCC) and in the sporadic setting. They are characterised by a high level of microsatellite instability (MSI-H) and superficially resemble each other in that they are frequently located i...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1023/B:FAME.0000039861.30651.c8
更新日期:2004-01-01 00:00:00
abstract::This article provides a historical overview of the online database ( www.insight-group.org/mutations ) maintained by the International Society for Gastrointestinal Hereditary Tumours. The focus is on the mismatch repair genes which are mutated in Lynch Syndrome. APC, MUTYH and other genes are also an important part of...
journal_title:Familial cancer
pub_type: 历史文章,杂志文章
doi:10.1007/s10689-013-9616-0
更新日期:2013-06-01 00:00:00
abstract::Medical geneticists must generate a differential diagnosis, practice evidence-based medicine, and apply ethical, legal, and social issue (ELSI) principles in the clinical setting. Several clinical scenarios are presented which illustrate dilemmas in the cancer genetics setting. These include the differential diagnosis...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-007-9148-6
更新日期:2008-01-01 00:00:00
abstract::Small cell carcinoma of the ovary, hypercalcemic type, (SCCOHT) is the most common undifferentiated ovarian cancer in women aged under 40 years. SCCOHT is a monogenic disease, characterized by germline and somatic SMARCA4 mutations. Recent studies have stressed its morphological and clinical similarity to malignant rh...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-016-9957-6
更新日期:2017-07-01 00:00:00
abstract::Germline CDH1 mutation carriers are at risk for early-onset diffuse gastric cancer (DGC) and female carriers have an additional risk of lobular breast cancer. The reported literature GC risk of 70% has led to the recommendation for germline mutation carriers to undergo prophylactic total gastrectomy (PTG). The objecti...
journal_title:Familial cancer
pub_type: 杂志文章,多中心研究
doi:10.1007/s10689-019-00133-9
更新日期:2019-10-01 00:00:00
abstract::Lynch Syndrome (LS) is a cancer susceptibility syndrome caused mostly by mutations in the mismatch repair genes, hMLH1, hMSH2 and hMSH6. Mutation carriers are at risk of colorectal and endometrial cancer and, less frequently, cancer of the ovaries, stomach, small bowel, hepatobiliary tract, ureter, renal pelvis and br...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-010-9334-9
更新日期:2010-09-01 00:00:00
abstract::Ovarian cancer is the fourth leading cause of cancer deaths among American women. While women in both the Ashkenazi and non-Ashkenazi populations have an estimated 1.7% lifetime risk of acquiring malignancy, the proportion of hereditary ovarian cancer is much higher in the Ashkenazim. Most of this increased proportion...
journal_title:Familial cancer
pub_type: 杂志文章,评审
doi:10.1007/s10689-004-9552-0
更新日期:2004-01-01 00:00:00
abstract::In the absence of a polyposis phenotype, colorectal cancer (CRC) patients referred for genetic testing because of early-onset disease and/or a positive family history, typically undergo testing for molecular signs of Lynch syndrome in their tumors. In the absence of these signs, DNA testing for germline mutations asso...
journal_title:Familial cancer
pub_type: 杂志文章,评审
doi:10.1007/s10689-012-9570-2
更新日期:2013-03-01 00:00:00
abstract::Peutz-Jeghers syndrome (PJS) is a hereditary polyposis syndrome characterized by hamartomatous Peutz-Jeghers polyps in the gastrointestinal tract, mucocutaneous pigmentations, and increased risk for intestinal and extraintestinal cancer. In more than two-third of patients it is possible to detect pathogenic variants i...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-020-00191-4
更新日期:2020-06-06 00:00:00
abstract::Adult weight gain and central obesity can increase breast cancer risk. We determined the prevalence of adult weight gain and central obesity amongst women with a family history (FH) as compared to women with a population risk to determine whether adiposity could contribute to their increased risk. Adult weight gain, w...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-007-9122-3
更新日期:2007-01-01 00:00:00