Detalhe da pesquisa
1.
Delineating genotype and parent-of-origin effect on the phenotype in MSH6-associated Lynch syndrome.
Genes Chromosomes Cancer
; 63(5): e23237, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38722212
2.
Clinical applicability of the Polygenic Risk Score for breast cancer risk prediction in familial cases.
J Med Genet
; 60(4): 327-336, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36137616
3.
Discordant Staining Patterns and Microsatellite Results in Tumors of MSH6 Pathogenic Variant Carriers.
Mod Pathol
; 36(9): 100240, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37307877
4.
Sexual functioning more than 15 years after premenopausal risk-reducing salpingo-oophorectomy.
Am J Obstet Gynecol
; 228(4): 440.e1-440.e20, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36403862
5.
Long-term effects of premenopausal risk-reducing salpingo-oophorectomy on cognition in women with high familial risk of ovarian cancer: A cross-sectional study.
BJOG
; 130(8): 968-977, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36715559
6.
Role of germline aberrations affecting CTNNA1, MAP3K6 and MYD88 in gastric cancer susceptibility.
J Med Genet
; 55(10): 669-674, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29330337
7.
Ovarian stimulation for IVF and risk of primary breast cancer in BRCA1/2 mutation carriers.
Br J Cancer
; 119: 357-363, 2018 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29937543
8.
Novel BRCA1 and BRCA2 Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas.
Hum Mutat
; 38(2): 226-235, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27767231
9.
Accuracy of Hereditary Diffuse Gastric Cancer Testing Criteria and Outcomes in Patients With a Germline Mutation in CDH1.
Gastroenterology
; 149(4): 897-906.e19, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26072394
10.
Colorectal cancer risk variants on 11q23 and 15q13 are associated with unexplained adenomatous polyposis.
J Med Genet
; 51(1): 55-60, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24253443
11.
Relevance and efficacy of breast cancer screening in BRCA1 and BRCA2 mutation carriers above 60 years: a national cohort study.
Int J Cancer
; 135(12): 2940-9, 2014 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24789418
12.
High-Grade Serous Carcinoma at Risk-Reducing Salpingo-Oophorectomy in Asymptomatic Carriers of BRCA1/2 Pathogenic Variants: Prevalence and Clinical Factors.
J Clin Oncol
; 41(14): 2523-2535, 2023 05 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36809028
13.
Spectrum and Frequency of Germline FANCM Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases.
Cancers (Basel)
; 15(13)2023 Jun 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37444426
14.
ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk.
Clin Cancer Res
; 29(16): 3037-3050, 2023 08 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37449874
15.
Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study.
Hum Mutat
; 33(3): 561-71, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22213089
16.
Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers.
Breast Cancer Res
; 14(1): R33, 2012 Feb 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-22348646
17.
Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study.
Lancet Oncol
; 12(1): 49-55, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21145788
18.
Progression-free survival and overall survival after BRCA1/2-associated epithelial ovarian cancer: A matched cohort study.
PLoS One
; 17(9): e0275015, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36137114
19.
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
20.
Body weight and risk of breast cancer in BRCA1/2 mutation carriers.
Breast Cancer Res Treat
; 126(1): 193-202, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20730487