|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We describe twenty-nine novel BRCA1 and BRCA2 variants detected in Italian individuals suffering from hereditary breast and ovarian cancer syndrome (HBOC).
|
29020660 |
2017 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Experience of risk-reducing salpingo-oophorectomy for a BRCA1 mutation carrier and establishment of a system performing a preventive surgery for hereditary breast and ovarian cancer syndrome in Japan: our challenges for the future.
|
23487443 |
2013 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to develop an NGS-based workflow for routine diagnostics for hereditary breast and ovarian cancer syndrome (HBOCS), to improve genetic testing for BRCA1 and BRCA2.
|
23249957 |
2013 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Other hereditary disorders predisposing to PC include Peutz-Jeghers syndrome, due to the STK11 mutation, familial pancreatitis due to the cationic trypsinogen gene, site-specific familial pancreatic cancer which may be due to the 4q32-34 mutation, hereditary breast-ovarian cancer (HBOC) syndrome that is due to BRCA2 and possibly some families with HBOC that is due to BRCA1 , familial adenomatous polyposis due to the ATP gene, and ataxia telangiectasia due to the ATM germline mutation.
|
15516847 |
2004 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Genetic testing for BRCA1/2 mutations associated with hereditary breast and ovarian cancer reveals significant risk information about one's chances of developing cancer.
|
21797732 |
2011 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
The two major susceptibility genes, BRCA1 and BRCA2, are involved in hereditary breast and ovarian cancer syndrome.
|
20353281 |
2010 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The contribution of BRCA1 and BRCA2 mutations to hereditary breast/ovarian cancer in Algerian population is largely unknown.
|
20683152 |
2010 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germ-line mutations in the breast cancer susceptibility genes BRCA1 and BRCA2 account for a large proportion of hereditary breast/ovarian cancer families.
|
12955719 |
2003 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Detection of pathogenic variants in hereditary breast and ovarian cancer-related breast cancer type 1 and type 2 susceptibility proteins (BRCA1/2) genes is an effective strategy in cancer prevention and treatment.
|
28161869 |
2017 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The purpose of our study was to estimate the incidence and spectrum of pathogenic mutations in BRCA1/2 genes in early onset and familial breast/ovarian cancer among Tunisian women.
|
24372583 |
2015 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
PosttranslationalModification
|
disease |
BEFREE |
Germline promoter hypermethylation of BRCA1 and BRCA2 genes is an alternative event of gene silencing that has not been widely investigated in hereditary breast and ovarian cancer (HBOC) syndrome.
|
29404838 |
2018 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
<i>BRCA1/2</i> screening in Hereditary Breast and Ovarian Syndrome (HBOC) is an essential step for effective patients' management.
|
29570666 |
2018 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Many women with an elevated risk of hereditary breast and ovarian cancer have previously tested negative for pathogenic mutations in BRCA1 and BRCA2.
|
28281021 |
2017 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A national study of BRCA1 and BRCA2 mutations in Danish HBOC (Hereditary Breast Ovarian Cancer) families revealed a total number of 322 mutation positive families, 206 (64%) BRCA1 and 116 (36%) BRCA2 positive families from a population of 5.5 million inhabitants.
|
18465347 |
2008 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Since the identification of two breast-ovarian cancer susceptibility genes (BRCA1/2), predictive testing for hereditary breast/ovarian cancer (HBOC) has been available.
|
10757645 |
2000 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The physicians (n = 225) were asked to provide HBOCS management of healthy women ages 40-42 in the presence of a familial BRCA1 mutation.
|
21465171 |
2011 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The study included 55 females from Serbian hereditary breast/ovarian cancer families negative for sequence alterations and large genomic rearrangements in BRCA1/2 genes.
|
26406419 |
2015 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
We identified a BRCA1 carrier in a hereditary breast and ovarian cancer kindred who developed a low-grade malignant appendiceal mucocele 2 years after risk-reducing salpingo-oophorectomy.
|
23552812 |
2013 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here, we report the characterization of the BRCA1 c.190T>C (p.Cys64Arg) mutation, mapped to the RING-finger domain coding region, that we detected in 43 hereditary breast/ovarian cancer (HBOC) families, for the large part originating from the province of Bergamo (Northern Italy).
|
24516540 |
2014 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We compared molecular alterations in histologically homologous ovarian and uterine carcinomas, including the prevalence of allelic loss of markers on 17q (within and distal to the familial breast-ovarian cancer gene BRCA1), mutations of codon 12 of Ki-ras and immunohistochemical expression of the p53 and c-erbB2 gene products in endometrioid and papillary serous carcinomas occurring in the uterus and ovary.
|
9500773 |
1998 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In total, 3310 female BRCA1/2 mutation carriers participating in a nationwide prospective cohort (Hereditary Breast and Ovarian Cancer in the Netherlands) were included.
|
29483665 |
2018 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Some of these proteins also confer susceptibility to hereditary breast and ovarian cancer (HBOC), since FANCD1 is the BRCA2 breast cancer susceptibility gene, and FANCN/PALB2 and FANCJ/BRIP1 explain 2% of non-BRCA1/2 HBOC families.
|
19536649 |
2009 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Participants were 327 adult male and female members of BRCA1- and BRCA2-linked hereditary breast and ovarian cancer families, who were identified as carriers, noncarriers, or decliners of genetic testing.
|
9586874 |
1998 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Hereditary breast and ovarian cancer (HBOC): clinical features and counseling for BRCA1 and BRCA2, Lynch syndrome, Cowden syndrome, and Li-Fraumeni syndrome.
|
20494261 |
2010 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The hereditary breast and ovarian cancer predisposition genes BRCA1 and BRCA2 account for the lion's share of heritable breast cancer risk in the human population.
|
21996371 |
2011 |