|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
Biomarker
|
disease |
BEFREE |
Lynch syndrome and BRCA-1 and BRCA-2-associated hereditary breast and ovarian cancer are hereditary cancer syndromes frequently involving the gynaecological tract but tumours associated with similar molecular alterations may also occur sporadically.
|
29287922 |
2018 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The hereditary breast and ovarian cancer syndrome, primarily due to mutations in BRCA1 and BRCA2, is the main cause of heredity, but also the hereditary nonpolyposis colorectal cancer (HNPCC) syndrome confers an increased risk of ovarian cancer.
|
16360201 |
2006 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We present 2 cases of OCS; one arising in a patient with a pathogenetic BRCA1 mutation and the other in a woman affected by Lynch Syndrome (LS) carrying a MSH6 germline mutation.
|
27167672 |
2017 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This approach has identified two genetic variants that are associated with colorectal cancer risk in Lynch Syndrome, and five polymorphisms that are associated with the risk of breast cancer for BRCA1 and/or BRCA2 mutation carriers.
|
20399636 |
2010 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Several studies have addressed the resultant increased demand for testing for Lynch syndrome and BRCA1/2 mutations in endometrial and ovarian cancers, respectively.
|
30036195 |
2018 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Among 1046 study participants, 40 BRCA1/2-negative patients (3.8%; 95% CI, 2.8%-5.2%) harbored deleterious mutations, most commonly in moderate-risk breast and ovarian cancer genes (CHEK2, ATM, and PALB2) and Lynch syndrome genes.
|
26270727 |
2015 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
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.
|
29846880 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
Biomarker
|
disease |
BEFREE |
For gynecologists, knowledge of cancer susceptibility genes such as BRCA1 and BRCA2 and the genetic syndrome hereditary nonpolyposis colorectal cancer (Lynch syndrome II) affects how patients are screened for ovarian and endometrial cancers.
|
16582132 |
2006 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Counselees from families with a known BRCA1/2 or Lynch syndrome mutation were randomised into two groups.
|
22091929 |
2012 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Nine of 102 (8.8%) families were regarded as having hereditary breast-ovarian cancer syndrome, two families (2.0%) were diagnosed with Lynch syndrome and six patients harbored BRCA1 or BRCA2 mutations.
|
24218521 |
2014 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
Biomarker
|
disease |
BEFREE |
These findings substantiate the utility of multi-gene panel testing in ovarian cancer care regardless of age at diagnosis, family history, or histologic subtype, providing evidence for testing beyond BRCA1/2 and the Lynch syndrome genes.
|
30322717 |
2018 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The dominantly inherited ovarian cancer predisposing genes, BRCA1, BRCA2 and genes involved in the hereditary non-polyposis colorectal cancer (HNPCC) syndrome, have recently been identified.
|
9652774 |
1998 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The first 2 groups are associated with germ line mutations in the BRCA1 and BRCA2 tumor suppressor genes, whereas HNPCC is associated with germ line mutations in the DNA mismatch repair (MMR) genes, primarily hMLH1 and hMSH2.
|
16112002 |
2005 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
Biomarker
|
disease |
BEFREE |
Opportunities to improve upon identification of patients at risk for hereditary cancer predisposition include revising BRCA1/2 and Lynch syndrome testing criteria to include additional clinically actionable genes with overlapping phenotypes and relaxing testing criteria for associated cancers.
|
31406321 |
2020 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A total of 413 cases were included in the study: 27 with Lynch syndrome (LS), 222 with germline BRCA 1 or 2 mutations and 164 cases with strong family or personal history (non-Lynch/non-BRCA).
|
29484698 |
2018 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Advances in molecular genetics have led to the identification of BRCA1 and BRCA2 gene mutations which predispose to the hereditary breast-ovarian cancer syndrome, and mutations in mismatch repair genes, the most common of which are MSH2 and MLH1, which predispose to Lynch syndrome.
|
19383374 |
2009 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
Biomarker
|
disease |
BEFREE |
Participants who underwent BRCA1/2 or Lynch syndrome genetic testing (n = 77; 2.42% of respondents) were more likely to be female and to have a family or personal history of cancer than those not undergoing testing.
|
25427996 |
2015 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
Biomarker
|
disease |
BEFREE |
Pooled analysis for BRCA1/2 and Lynch syndrome tests showed an inverse relationship between the percentage of mutation detected and the absolute number of tests performed over the time (overall Cochran-Armitage test for trend: P < 0.001).
|
23974829 |
2013 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
Biomarker
|
disease |
BEFREE |
Of the 528 patients, 22.2% met BRCA1 and BRCA2 ( BRCA1/2) testing criteria and not LS criteria, and 5.1% met neither BRCA1/2 nor LS testing criteria.
|
28514183 |
2017 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
Biomarker
|
disease |
BEFREE |
The microarray consisted of probes corresponding to the exons and flanking introns of BRCA1 and BRCA2 (≈1,700) and Lynch syndrome/polyposis genes MLH1, MSH2, MSH6, APC, MUTYH, and EPCAM (≈2,200).
|
25204323 |
2014 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Among 159 patients with PAC who pursued genetic testing, 24 pathogenic mutations were identified (15.1%; 95% confidence interval, 9.5%-20.7%), including BRCA2 (13 mutations), BRCA1 (4 mutations), p16 (2 mutations), PALB2 (1 mutation), and Lynch syndrome (4 mutations).
|
26440929 |
2015 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To determine the validity of observations suggesting a significant dichotomy of gynecologic cancers determined by linkage to specific genetic defects associated with two major autosomal dominant hereditary cancer syndromes; the Creighton University Hereditary Cancer Registry was searched for female carriers of germ line mutations in BRCA1 and BRCA2, associated with the Hereditary Breast Ovarian Cancer syndrome, and in the mismatch repair (MMR) genes MLH1, MSH2 and MSH6, associated with Lynch syndrome, who were registered with invasive uterine, ovarian, fallopian tube or peritoneal cancers between January 1, 1959 and December 31, 2010.
|
23666231 |
2013 |