Detalhe da pesquisa
1.
Testicular Sertoli cell tumour and potentially testicular Leydig cell tumour are features of DICER1 syndrome.
J Med Genet
; 59(4): 346-350, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33782093
2.
Diagnostic chest X-rays and breast cancer risk among women with a hereditary predisposition to breast cancer unexplained by a BRCA1 or BRCA2 mutation.
Breast Cancer Res
; 23(1): 79, 2021 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34344426
3.
Gene- and pathway-level analyses of iCOGS variants highlight novel signaling pathways underlying familial breast cancer susceptibility.
Int J Cancer
; 148(8): 1895-1909, 2021 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33368296
4.
Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort study.
Am J Obstet Gynecol
; 225(1): 51.e1-51.e17, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33493488
5.
Psychosocial and clinical factors of probands impacting intrafamilial disclosure and uptake of genetic testing among families with BRCA1/2 or MMR gene mutations.
Psychooncology
; 28(8): 1679-1686, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31152683
6.
Endoscopic Phenotype of Monoallelic Carriers of MUTYH Gene Mutations in the Family of Polyposis Patients: A Prospective Study.
Dis Colon Rectum
; 62(4): 470-475, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30640315
7.
Clinical implications of CTNNA1 germline mutations in asymptomatic carriers.
Gastric Cancer
; 22(4): 899-903, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30515673
8.
Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers.
Breast Cancer Res
; 20(1): 28, 2018 04 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-29665859
9.
Thirteen years' experience of 893 PGD cycles for monogenic disorders in a publicly funded, nationally regulated regional hospital service.
Reprod Biomed Online
; 36(2): 154-163, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-29203382
10.
Risk assessment of maternally inherited SDHD paraganglioma and phaeochromocytoma.
J Med Genet
; 54(2): 125-133, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27856506
11.
Germline CDKN2A/P16INK4A mutations contribute to genetic determinism of sarcoma.
J Med Genet
; 54(9): 607-612, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28592523
12.
Telomere length, ATM mutation status and cancer risk in Ataxia-Telangiectasia families.
Carcinogenesis
; 38(10): 994-1003, 2017 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28981872
13.
Early onset breast cancer: differences in risk factors, tumor phenotype, and genotype between North African and South European women.
Breast Cancer Res Treat
; 166(2): 631-639, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28779219
14.
GENESIS: a French national resource to study the missing heritability of breast cancer.
BMC Cancer
; 16: 13, 2016 Jan 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-26758370
15.
A germline mutation in PBRM1 predisposes to renal cell carcinoma.
J Med Genet
; 52(6): 426-30, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25911086
16.
Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization.
Hum Mutat
; 36(9): 894-902, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26077438
17.
ETMR-like infantile cerebellar embryonal tumors in the extended morphologic spectrum of DICER1-related tumors.
Acta Neuropathol
; 137(1): 175-177, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30446821
18.
The "extreme phenotype approach" applied to male breast cancer allows the identification of rare variants of ATR as potential breast cancer susceptibility alleles.
Oncotarget
; 14: 111-125, 2023 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36749285
19.
Association and performance of polygenic risk scores for breast cancer among French women presenting or not a familial predisposition to the disease.
Eur J Cancer
; 179: 76-86, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36509001
20.
Variation in breast cancer risk associated with factors related to pregnancies according to truncating mutation location, in the French National BRCA1 and BRCA2 mutations carrier cohort (GENEPSO).
Breast Cancer Res
; 14(4): R99, 2012 Jul 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-22762150