Detalhe da pesquisa
1.
Risk-reducing surgery in BRCA1/BRCA2 mutation carriers: Are there factors associated with the choice?
Psychooncology;
28(9): 1871-1878, 2019 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31264307
2.
Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility.
Genet Med;
20(4): 452-457, 2018 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28837162
3.
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.
Hum Mol Genet;
24(18): 5345-55, 2015 Sep 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26130695
4.
Whole-exome sequencing and targeted gene sequencing provide insights into the role of PALB2 as a male breast cancer susceptibility gene.
Cancer;
123(2): 210-218, 2017 01 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27648926
5.
An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers.
Breast Cancer Res;
17: 61, 2015 Apr 25.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25925750
6.
PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo.
Genet Med;
16(9): 688-94, 2014 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24556926
7.
A large de novo 9p21.3 deletion in a girl affected by astrocytoma and multiple melanoma.
BMC Med Genet;
15: 59, 2014 May 17.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24884915
8.
Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer.
PLoS Biol;
9(11): e1001199, 2011 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22110403
9.
Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers.
Hum Mol Genet;
20(16): 3304-21, 2011 Aug 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21593217
10.
First description of an acinic cell carcinoma of the breast in a BRCA1 mutation carrier: a case report.
BMC Cancer;
13: 46, 2013 Feb 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23374397
11.
Thyroid findings in pediatric and adult patients with PTEN hamartoma tumor syndrome: A retrospective analysis, and literature review.
Endocrine;
81(1): 98-106, 2023 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36690897
12.
Prevalence of BRCA homopolymeric indels in an ION Torrent-based tumour-to-germline testing workflow in high-grade ovarian carcinoma.
Sci Rep;
13(1): 7781, 2023 05 13.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37179432
13.
Identification of fifteen novel germline variants in the BRCA1 3'UTR reveals a variant in a breast cancer case that introduces a functional miR-103 target site.
Hum Mutat;
33(12): 1665-75, 2012 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22753153
14.
The Impact of Mediterranean Dietary Intervention on Metabolic and Hormonal Parameters According to BRCA1/2 Variant Type.
Front Genet;
13: 820878, 2022.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35356420
15.
Management of BRCA Tumour Testing in an Integrated Molecular Tumour Board Multidisciplinary Model.
Front Oncol;
12: 857515, 2022.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35463374
16.
Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2.
Breast Cancer Res;
13(6): R110, 2011.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22053997
17.
Exploring the link between MORF4L1 and risk of breast cancer.
Breast Cancer Res;
13(2): R40, 2011 Apr 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21466675
18.
Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers.
Hum Mol Genet;
18(22): 4442-56, 2009 Nov 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19656774
19.
Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers.
Hum Genet;
130(5): 685-99, 2011 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21597964
20.
Two new CHEK2 germ-line variants detected in breast cancer/sarcoma families negative for BRCA1, BRCA2, and TP53 gene mutations.
Breast Cancer Res Treat;
130(1): 207-15, 2011 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21562711