Detalhe da pesquisa
1.
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants.
medRxiv;
2024 May 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38854136
2.
Neuroblastoma Predisposition and Surveillance-An Update from the 2023 AACR Childhood Cancer Predisposition Workshop.
Clin Cancer Res;
: OF1-OF7, 2024 Jun 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38860978
3.
Evoked Piloerection Sign/Pseudo-Darier Sign: a Clinical Clue to the Diagnosis of Cutaneous Leiomyomas.
J Am Acad Dermatol;
2024 Jun 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38871084
4.
On the Hunt for the Missed Genetic Causes of Multiple Primary Tumors.
Cancer Prev Res (Phila);
17(5): 193-195, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38693900
5.
The risk of skin cancer in women who carry BRCA1 or BRCA2 mutations.
Hered Cancer Clin Pract;
22(1): 7, 2024 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38741145
6.
Intrathyroid Thymic Tissue in Children with DICER1 Syndrome.
Radiology;
311(2): e233544, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38713021
7.
Timing of genetic testing in BRCA1/2 and PALB2-Associated breast cancer: Preoperative result disclosure increases uptake of risk-reducing mastectomy and reduces unnecessary exposure to radiotherapy.
Eur J Surg Oncol;
50(6): 108324, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38636249
8.
Update on Cancer Predisposition Syndromes and Surveillance Guidelines for Childhood Brain Tumors.
Clin Cancer Res;
30(11): 2342-2350, 2024 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38573059
9.
Segregation, immunohistochemical, molecular and functional analyses classify a novel missense variant in fumarate hydratase (FH) as pathogenic.
Genes Chromosomes Cancer;
63(2): e23221, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38682608
10.
Actionable Genotypes and Life Span in Iceland.
N Engl J Med;
390(10): 957-958, 2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38446683
11.
Recurrent primary intracranial sarcoma, DICER1-mutant in a pediatric patient with DICER1 syndrome: the importance of molecular testing.
Childs Nerv Syst;
40(6): 1965-1969, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38478067
12.
Estrogen Receptor Expression in DICER1-related Lesions is Associated With the Presence of Cystic Components.
Am J Surg Pathol;
48(6): 733-741, 2024 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38539053
13.
Extraskeletal chondroma of the toe in a child with DICER1 tumor predisposition syndrome: support for a dominant negative mechanism.
Virchows Arch;
2024 Feb 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38355738
14.
Bilateral Oophorectomy and All-Cause Mortality in Women With BRCA1 and BRCA2 Sequence Variations.
JAMA Oncol;
10(4): 484-492, 2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38421677
15.
MRI Surveillance and Breast Cancer Mortality in Women With BRCA1 and BRCA2 Sequence Variations.
JAMA Oncol;
10(4): 493-499, 2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38421676
16.
SMARCB1 (INI1) Deficient Tumours of the Uterine Cervix: Report of Two Cases, Including One Associated With an NTRK Fusion.
Int J Gynecol Pathol;
2024 Jan 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38289183
17.
Counselling Framework for Germline BRCA1/2 and PALB2 Carriers Considering Risk-Reducing Mastectomy.
Curr Oncol;
31(1): 350-365, 2024 01 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38248108
18.
Teratoma-associated and so-called pure Wilms tumour of the ovary represent two separate tumour types with distinct molecular features.
Histopathology;
84(4): 683-696, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38084641
19.
Fetal Type Morphologies Suggest the Presence of DICER1 Hotspot Mutations in Non-small Cell Lung Cancer.
Am J Surg Pathol;
48(2): 221-229, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38050371
20.
ASO Visual Abstract: Awareness and Candidacy for Endocrine Prevention and Risk-Reducing Mastectomy of Unaffected High-Risk Women Referred for Breast Cancer Risk Assessment.
Ann Surg Oncol;
31(2): 1031-1032, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38062296