|
Lynch Syndrome
|
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 |
|
Lynch Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
We used the Centers for Disease Control and Prevention (CDC) Science Impact Framework to trace the impact of public health activities and partnerships on the implementation of the 2009 Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Lynch Syndrome screening recommendation and the 2005 and 2013 United States Preventive Services Task Force (USPSTF) BRCA1 and BRCA2 testing recommendations.The EGAPP and USPSTF recommendations have each been cited by >300 peer-reviewed publications.
|
29907802 |
2019 |
|
Lynch Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Women with familial cancer syndromes such as hereditary breast and ovarian cancer syndrome (BRCA1 and BRCA2) and Lynch syndrome are at a significantly increased risk of developing ovarian cancer and are advised to undergo prophylactic removal of their ovaries and fallopian tubes at age 35 to 40 years, after childbearing is complete.
|
28333842 |
2017 |
|
Lynch Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The second patient had a family history suggestive of Lynch syndrome but was found to have a germline BRCA2 mutation that was suggested by NGS.
|
28315974 |
2017 |
|
Lynch Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
This brief article will provide a summary of these advances over three eras of cancer genetics: pre-discovery of the more common high impact genes, namely BRCA1/BRCA2 and the mismatch repair genes associated with Lynch syndrome; the time during which the genes were being discovered; and current day.
|
26920353 |
2016 |
|
Lynch Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, we reviewed the 62 PrCa diagnoses in all HBOC (n = 161) and Lynch syndrome (n = 124) families previously diagnosed at our department, and found five other BRCA2 mutation carriers and two additional MSH2 mutation carriers.
|
26289772 |
2016 |
|
Lynch Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The cancer risks associated with mutations in moderate-penetrance genes are lower and different than those reported for high-penetrance gene mutations (such as mutations in BRCA1 and BRCA2, and those associated with Lynch syndrome).
|
27296296 |
2016 |
|
Lynch Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The three patients with non-Lynch syndrome deleterious mutations and serous histology had mutations in BRCA2, BRIP1, and RAD51C.
|
27443514 |
2016 |
|
Lynch Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Fifteen individuals had mutations in BRCA1 or BRCA2; 93% of these met the NCCN criteria for Lynch syndrome testing and 33% met NCCN criteria for BRCA1 and BRCA2 analysis (P = .0017).
|
25980754 |
2015 |
|
Lynch Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Because constitutional BRCA2 and MLH1 gene mutations are associated with Hereditary Breast Ovarian Cancer Syndrome (HBOCS) and Lynch syndrome respectively, sequence analysis of DNA isolated from peripheral blood was performed.
|
25712765 |
2015 |
|
Lynch Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In 66.6% of BRCA1 or BRCA2 mutation carriers and in 58.3% of LS mutation carriers, >5 years passed between the cancer diagnoses.
|
25503195 |
2015 |
|
Lynch Syndrome
|
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 |
|
Lynch Syndrome
|
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 |
|
Lynch Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in BRCA1 and BRCA2 genes predispose to hereditary breast cancer, whereas carriers of mutations in any of the mismatch repair genes (MMR; hMLH1, hMSH2, hMSH6, hPMS2) are highly susceptible to Lynch syndrome.
|
23695190 |
2014 |
|
Lynch Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Within this group, germline mutations in mismatch repair (MMR) genes, known otherwise as Lynch syndrome (LS), account for the majority of cases that are not associated with mutations in BRCA1 or BRCA2.
|
24113308 |
2013 |
|
Lynch Syndrome
|
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 |
|
Lynch Syndrome
|
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 |
|
Lynch Syndrome
|
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 |