Detalhe da pesquisa
1.
High yield of surveillance in patients diagnosed with constitutional mismatch repair deficiency.
J Med Genet
; 60(7): 679-684, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36411031
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.
Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing.
Int J Cancer
; 144(8): 1962-1974, 2019 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30303537
4.
Ovarian Clear Cell Carcinoma in Cowden Syndrome.
J Natl Compr Canc Netw
; 17(1): 7-11, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30659124
5.
Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents.
Gastroenterology
; 149(4): 1017-29.e3, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26116798
6.
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
7.
The UMD-APC database, a model of nation-wide knowledge base: update with data from 3,581 variations.
Hum Mutat
; 35(5): 532-6, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24599579
8.
Germline mutations of inhibins in early-onset ovarian epithelial tumors.
Hum Mutat
; 35(3): 294-7, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24302632
9.
Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants.
J Med Genet
; 50(4): 264-70, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23384855
10.
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
11.
TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing.
Cancers (Basel)
; 13(15)2021 Jul 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34359559
12.
Coexistence of schwannomatosis and glioblastoma in two families.
Eur J Med Genet
; 62(8): 103680, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31128261
13.
First clinical description of a pedigree with complete NAF1 deletion.
Leuk Lymphoma
; 64(2): 487-490, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36416722
14.
Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes.
Eur J Hum Genet
; 26(11): 1597-1602, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29967336
15.
BRCA1 allele-specific expression in genetic predisposed breast/ovarian cancer.
Fam Cancer
; 16(2): 167-171, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27783335
16.
A remarkable APC mosaicism with two mutant alleles in a family with familial adenomatous polyposis.
Am J Med Genet A
; 155A(6): 1500-2, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21567933
17.
Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers.
J Clin Oncol
; 33(21): 2345-52, 2015 Jul 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-26014290
18.
Breast Cancer Risk Associated with Estrogen Exposure and Truncating Mutation Location in BRCA1/2 Carriers.
Cancer Epidemiol Biomarkers Prev
; 24(4): 698-707, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25613119
19.
Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.
Eur J Hum Genet
; 22(11): 1305-13, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24549055
20.
Diversity of the clinical presentation of the MMR gene biallelic mutations.
Fam Cancer
; 13(1): 131-5, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24068316