|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
Biomarker
|
disease |
BEFREE |
73% was tested for BRCA1/2, 27% for Lynch syndrome.
|
23604858 |
2013 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
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 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
Biomarker
|
disease |
BEFREE |
The genetic tests offered were mainly for BRCA1/2 (59, 40%), Lynch syndrome (23, 16%), and newborn screening (18, 12%).
|
31275354 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Women found to have LS in this study underwent prophylactic gynecologic surgery at rates comparable to those published for BRCA1/2 mutation carriers.
|
22940489 |
2012 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
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 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
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 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
First, the impact of highly penetrant but lowly prevalent mutations of germline DNA on cancer prognosis has been studied extensively for BRCA1 and BRCA2 mutations as well as mutations related to hereditary nonpolyposis colorectal cancer syndrome.
|
20679599 |
2010 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
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 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Studies have provided additional information on the residual risk of cancer following bilateral prophylactic salpingo-oophorectomy, have demonstrated its benefit in Lynch syndrome and have suggested a short-term mortality benefit following bilateral prophylactic salpingo-oophorectomy in BRCA1/2 mutation carriers.
|
17218848 |
2007 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Clinical observation was made of a patient with ACC and hereditary nonpolyposis colorectal cancer and a patient with ACC and a BRCA1 germline mutation.
|
22042785 |
2011 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This study examined prospectively the contribution of family functioning, differentiation to parents, family communication and support from relatives to psychological distress in individuals undergoing genetic susceptibility testing for a known familial pathogenic BRCA1/2 or Hereditary nonpolyposis colorectal cancer-related mutation.
|
17204044 |
2007 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In addition to this syndrome, gastric cancer risk is elevated in Lynch syndrome associated with germline mutations in DNA mismatch repair genes and microsatellite instability, in hereditary breast and ovarian cancer syndrome due to germline BRCA1 and BRCA2 mutations, in familial adenomatous polyposis caused by germline APC mutations, in Li-Fraumeni syndrome due to germline p53 mutations, in Peutz-Jeghers syndrome associated with germline STK11 mutations, and in juvenile polyposis syndrome associated with germline mutations in the SMAD4 and BMPR1A genes.
|
22846738 |
2013 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
At least one of ten patients with ovarian cancer is estimated to develop their tumor because of heredity with the breast and ovarian cancer syndrome due to mutations in the BRCA1 and BRCA2 genes and hereditary nonpolyposis colorectal cancer (HNPCC) being the major genetic causes.
|
17343610 |
2007 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
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 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Risk assessment and early detection strategies in individuals with BRCA1/2 mutations and with Lynch syndrome have been quite extensively studied, whereas much less is known about the management of mutation carriers with less common high-penetrance cancer susceptibility genes (PTEN, TP53, STK11, CDH1), and particularly those who carry mutations in moderate-penetrance genes (e.g., PALB2, CHEK2, ATM, NF1, RAD51C, RAD51D, BRIP1).
|
27734215 |
2016 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
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 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In 15 of these 22 cases, the relevant history suggestive of hereditary breast cancer and OC (due to BRCA1 or BRCA2 mutations) or Lynch syndrome had been documented, but no action was recorded, and its significance was not appreciated.
|
22274317 |
2012 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Individuals with two primary neoplasms (7), or with a first- or two second-degree relatives with breast/ovarian cancer were tested for BRCA1/BRCA2 mutations (18); those with two primary HNPCC cancers or one first degree relative with an HNPCC-related cancer were tested for mutations in MLH1/MSH2 (19).
|
14574163 |
2003 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
Biomarker
|
disease |
BEFREE |
Germ line mutations in genes involved in hereditary cancer syndromes, such as BRCA1 and BRCA2 in breast cancer and MSH2, MSH6, MLH1, and PSM2 in hereditary nonpolyposis colorectal cancer (HNPCC, more recently indicated as Lynch syndrome), confer a high risk to develop cancer.
|
22454054 |
2012 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
Biomarker
|
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 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations cause hereditary nonpolyposis colorectal cancer (HNPCC), which is the third most common cause of inherited ovarian cancer after BRCA1 and BRCA2 mutations.
|
18543306 |
2008 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Approximately 7%-10% of ovarian cancers occur in women with hereditary susceptibility, primarily secondary to mutations in BRCA1 and BRCA2, with smaller contributions from mutations in mismatch repair genes associated with the hereditary nonpolyposis colorectal cancer and other, as yet undiscovered, genes.
|
14530500 |
2003 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
GeneticVariation
|
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 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Cancer-related distress, worry and risk perception were assessed in 271 applicants for genetic testing of an identified mutation in BRCA1/2 (BReast CAncer) or a HNPCC (Hereditary Nonpolyposis Colorectal Cancer) related gene before, one week after, and six months after genetic test disclosure.
|
16600981 |
2006 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We review the options for gynecologic cancer risk reduction in women with an inherited mutation in BRCA1, BRCA2, or one of the mismatch repair (MMR) genes associated with Lynch/HNPCC syndrome.
|
17920895 |
2007 |