Detalhe da pesquisa
1.
Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.
Am J Hum Genet
; 108(10): 1907-1923, 2021 10 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34597585
2.
Cerebral dural arteriovenous fistulas in patients with PTEN-related hamartoma tumor syndrome.
Clin Genet
; 106(1): 90-94, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38424388
3.
AXIN2 germline testing in a French cohort validates pathogenic variants as a rare cause of predisposition to colorectal polyposis and cancer.
Genes Chromosomes Cancer
; 62(4): 210-222, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36502525
4.
Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes.
Lancet Oncol
; 24(1): 91-106, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36436516
5.
Cancer risk and tumour spectrum in 172 patients with a germline SUFU pathogenic variation: a collaborative study of the SIOPE Host Genome Working Group.
J Med Genet
; 2022 Jun 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35768194
6.
First estimates of diffuse gastric cancer risks for carriers of CTNNA1 germline pathogenic variants.
J Med Genet
; 59(12): 1189-1195, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36038258
7.
Management of Pathogenic CDH1 Variant Carriers Within the FREGAT Network: A Multicentric Retrospective Study.
Ann Surg
; 276(5): 830-837, 2022 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35856494
8.
International Delphi consensus guidelines for follow-up after prophylactic total gastrectomy: the Life after Prophylactic Total Gastrectomy (LAP-TG) study.
Gastric Cancer
; 25(6): 1094-1104, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35831514
9.
Hereditary diffuse gastric cancer: updated clinical practice guidelines.
Lancet Oncol
; 21(8): e386-e397, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32758476
10.
[Clinical Cancer Genetics: A guide for the pathologist]. / Les trois temps de la prise en charge oncogénétique : la consultation, l'analyse en laboratoire et le suivi personnalisé.
Ann Pathol
; 40(2): 63-69, 2020 Apr.
Artigo
em Francês
| MEDLINE | ID: mdl-32046877
11.
Clinical implications of CTNNA1 germline mutations in asymptomatic carriers.
Gastric Cancer
; 22(4): 899-903, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30515673
12.
Low risk of invasive lobular carcinoma of the breast in carriers of BRCA1 (hereditary breast and ovarian cancer) and TP53 (Li-Fraumeni syndrome) germline mutations.
Breast J
; 25(1): 16-19, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30414230
13.
Pattern multiplicity and fumarate hydratase (FH)/S-(2-succino)-cysteine (2SC) staining but not eosinophilic nucleoli with perinucleolar halos differentiate hereditary leiomyomatosis and renal cell carcinoma-associated renal cell carcinomas from kidney tumors without FH gene alteration.
Mod Pathol
; 31(6): 974-983, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29410489
14.
Successive relapses from donor and host cells in a patient with DEAD-box helicase 41 (DDX41)-associated myelodysplastic syndrome: The lessons to be learned.
Br J Haematol
; 199(4): 623-626, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36029113
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.
Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers.
J Med Genet
; 52(6): 361-74, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25979631
17.
Lobular breast cancer: incidence and genetic and non-genetic risk factors.
Breast Cancer Res
; 17: 37, 2015 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-25848941
18.
Overcoming the challenges associated with universal screening for Lynch syndrome in colorectal and endometrial cancer.
Genet Med
; 22(8): 1422-1423, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32409733
19.
CDH1 germline mutations and the hereditary diffuse gastric and lobular breast cancer syndrome: a multicentre study.
J Med Genet
; 50(7): 486-9, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23709761
20.
Features of colorectal adenomas among young patients with Lynch syndrome according to path_MMR: Results from the PRED-IdF registry.
Dig Liver Dis
; 56(4): 672-678, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37758611