|
Malignant neoplasm of male breast
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Inherited mutations in BRCA1, BRCA2 and PALB2 genes, as well as common polymorphisms, play a role in male breast cancer genetic predisposition.
|
31336362 |
2019 |
|
Malignant neoplasm of male breast
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Male breast cancer (MBC) is a rare cancer entity, with mutations in BRCA1 and BRCA2 genes accounting for ~ 10% of patients.
|
29335925 |
2018 |
|
Malignant neoplasm of male breast
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In order to investigate whether epigenetic signatures could define molecular subgroups of MBCs, we performed promoter methylation analysis of genes involved in signal transduction and hormone signalling in <i>BRCA1/2</i> mutation-positive and -negative MBCs.
|
29731982 |
2018 |
|
Malignant neoplasm of male breast
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Several susceptibility genes have been established for female breast cancer, of which mutations in BRCA1 and especially in BRCA2 are also known risk factors for male breast cancer (MBC).
|
28874143 |
2017 |
|
Malignant neoplasm of male breast
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Targeted PALB2 sequencing detected the c.1984A>T nonsense mutation in 1 of the 48 BRCA1/2 mutation-negative MBC cases.
|
27648926 |
2017 |
|
Malignant neoplasm of male breast
|
0.100 |
Biomarker
|
disease |
BEFREE |
Furthermore, the genophenotypical association of basal-like cancer with BRCA1 present in female breast cancer is not observed in male breast cancer.
|
26768033 |
2016 |
|
Malignant neoplasm of male breast
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We carried out comprehensive whole gene RNA analysis on 45 high-risk breast/ovary and male breast cancer families with no identified pathogenic variant on exonic sequencing and copy number analysis of BRCA1/2.
|
27273131 |
2016 |
|
Malignant neoplasm of male breast
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
However, only about 10 % of MBCs are caused by BRCA1/2 germ-line mutations, while the largest part are sporadic cancers and may derive from somatic alterations.
|
27628328 |
2016 |
|
Malignant neoplasm of male breast
|
0.100 |
Biomarker
|
disease |
BEFREE |
With the exception of grade, similar patterns of associations emerged when we compared BRCA1 MBCs and FBCs.
|
26857456 |
2016 |
|
Malignant neoplasm of male breast
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Somatic mutations and gene amplification were found only in BRCA1/2 mutation negative MBCs.Significant associations emerged between EGFR amplification and large tumor size (T4), ER-negative and HER2-positive status, between CCND1 amplification and HER2-positive and MIB1-positive status, and between ESR1 deletion and ER-negative status.Our results show that amplification of targetable oncogenes is frequent in BRCA1/2 mutation negative MBCs and may identify MBC subsets characterized by aggressive phenotype that may benefit from potential targeted therapeutic approaches.
|
27765917 |
2016 |
|
Malignant neoplasm of male breast
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
BRCA1 gene mutation seems to be related to male breast cancer, but its role is not clearly defined.
|
26085381 |
2015 |
|
Malignant neoplasm of male breast
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
MBC caused by BRCA1/2 mutations define two types of MBCs.
|
26026974 |
2015 |
|
Malignant neoplasm of male breast
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
High risk features (bilateral breast cancer, diagnosis <40 years, ovarian cancer, male breast cancer) were more commonly associated with an LGR than a non-LGR mutation (p = 0.008), In families with a BRCA1 LGR the mean age of breast cancer diagnosis was younger than in families with a non-LGR BRCA1 mutation (42.5 vs. 46.1 years, p = 0.007).
|
25678442 |
2015 |
|
Malignant neoplasm of male breast
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Using a TruSeq amplicon cancer panel, this study evaluated 48 familial MBCs (3 BRCA1 germline mutant, 17 BRCA2 germline mutant and 28 BRCAX) for hotspot somatic mutations and copy number changes in 48 common cancer genes.
|
25490678 |
2014 |
|
Malignant neoplasm of male breast
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
It is well-known that male breast cancer (MBC) susceptibility is mainly due to high-penetrance BRCA1/2 mutations.
|
23468243 |
2013 |
|
Malignant neoplasm of male breast
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous germ line mutations in the Breast CAncer1 (BRCA1) and BRCA2 genes can lead to a high risk of breast and ovarian cancer, in addition to a significantly increased susceptibility of pancreatic, prostate and male breast cancer.
|
20878484 |
2011 |
|
Malignant neoplasm of male breast
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
No study has evaluated the performance of BRCA1/2 mutations prediction models in male breast cancer (MBC) series.
|
20234394 |
2010 |
|
Malignant neoplasm of male breast
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Conclusions Here, we (i) reported that in our population about 9% of MBC cases are accounted for by BRCA1/BRCA2 mutations; (ii) enlarged the BRCA2 mutational spectrum and (iii) characterized a specific phenotype associated with BRCA2-related MBCs suggestive of aggressive behavior.
|
18819001 |
2009 |
|
Malignant neoplasm of male breast
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in BRCA1 and BRCA2 also are associated with male breast cancer (MBC).
|
18759107 |
2009 |
|
Malignant neoplasm of male breast
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To evaluate the potential contribution of mutations in the BRCA1 and BRCA2 genes to male breast cancer (MBC), we expanded a previous study to screen a total of 261 Israeli men diagnosed with breast carcinoma.
|
18158280 |
2008 |
|
Malignant neoplasm of male breast
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Here, we investigated the contribution of BRCA1, BRCA2 and CHEK2 alterations to MBC predisposition in Italy by analysing a large series of MBC cases, unselected for breast cancer family history and all negative for BRCA1/BRCA2 germ-line mutations.
|
17661168 |
2008 |
|
Malignant neoplasm of male breast
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The family history selection criteria most likely to indicate the presence of deleterious BRCA1/2 mutations are breast cancer <or=35 years (P = 0.012), two first-degree relatives with breast cancer <or=50 years (P = 0.022), and male breast cancer (P = 0.047).
|
18092194 |
2008 |
|
Malignant neoplasm of male breast
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In summary, we advise restricting BRCA1 MLPA screening to those subgroups that revealed LGRs and recommend BRCA2 MLPA screening only for families presenting with cooccurrence of female and male breast cancer.
|
18431737 |
2008 |
|
Malignant neoplasm of male breast
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
BRCA1/2 mutation analysis in male breast cancer families from North West England.
|
17636422 |
2008 |
|
Malignant neoplasm of male breast
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Common polymorphic variants in BRCA1 and BRCA2 genes may represent breast cancer (BC) susceptibility alleles and could be associated with a modestly increased risk of MBC at population level.
|
17767707 |
2007 |