Detalles de la búsqueda
1.
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.
Am J Hum Genet
; 2024 May 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-38776926
2.
The impact of coding germline variants on contralateral breast cancer risk and survival.
Am J Hum Genet
; 110(3): 475-486, 2023 03 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-36827971
3.
Improved sensitivity for detection of pathogenic variants in familial NF2-related schwannomatosis.
J Med Genet
; 61(5): 452-458, 2024 Apr 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-38302265
4.
Pathogenic variant detection rate varies considerably in male breast cancer families and sporadic cases: minimal additional contribution beyond BRCA2, BRCA1 and CHEK2.
J Med Genet
; 2024 Apr 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-38609177
5.
BRCA awareness and testing experience in the UK Jewish population: a qualitative study.
J Med Genet
; 2024 Apr 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-38575303
6.
Germline testing of BRCA1, BRCA2, PALB2 and CHEK2 c.1100delC in 1514 triple negative familial and isolated breast cancers from a single centre, with extended testing of ATM, RAD51C and RAD51D in over 400.
J Med Genet
; 61(4): 385-391, 2024 Mar 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-38123987
7.
Effect of baseline oestradiol serum concentration on the efficacy of anastrozole for preventing breast cancer in postmenopausal women at high risk: a case-control study of the IBIS-II prevention trial.
Lancet Oncol
; 25(1): 108-116, 2024 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-38070530
8.
Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency.
Gastroenterology
; 164(4): 579-592.e8, 2023 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-36586540
9.
The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2.
Genet Med
; 26(5): 101101, 2024 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-38362852
10.
Genome-wide association analysis identifies a susceptibility locus for sporadic vestibular schwannoma at 9p21.
Brain
; 146(7): 2861-2868, 2023 07 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-36546557
11.
Recommendations for the collection and annotation of biosamples for analysis of biomarkers in neurofibromatosis and schwannomatosis clinical trials.
Clin Trials
; 21(1): 40-50, 2024 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-37904489
12.
Differential rates of germline heterozygote and mosaic variants in NF2 may show varying propensity for meiotic or mitotic mutation.
J Med Genet
; 60(9): 838-841, 2023 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-36599646
13.
TP53 c.455C>T p.(Pro152Leu) pathogenic variant is a lower risk allele with attenuated risks of breast cancer and sarcoma.
J Med Genet
; 60(11): 1057-1060, 2023 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-37076289
14.
Cost-effectiveness model of renal cell carcinoma (RCC) surveillance in hereditary leiomyomatosis and renal cell carcinoma (HLRCC).
J Med Genet
; 60(1): 41-47, 2023 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-35121648
15.
Detection of pathogenic variants in breast cancer susceptibility genes in bilateral breast cancer.
J Med Genet
; 60(10): 974-979, 2023 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-37055167
16.
UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2.
J Med Genet
; 60(5): 417-429, 2023 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-36411032
17.
Differential involvement of germline pathogenic variants in breast cancer genes between DCIS and low-grade invasive cancers.
J Med Genet
; 60(8): 740-746, 2023 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-36442995
18.
The avoiding late diagnosis of ovarian cancer (ALDO) project; a pilot national surveillance programme for women with pathogenic germline variants in BRCA1 and BRCA2.
J Med Genet
; 60(5): 440-449, 2023 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-36319079
19.
Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996-2020: development of a national resource of patient-level genomics laboratory records.
J Med Genet
; 60(7): 669-678, 2023 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-36572524
20.
Incidences of colorectal adenomas and cancers under colonoscopy surveillance suggest an accelerated "Big Bang" pathway to CRC in three of the four Lynch syndromes.
Hered Cancer Clin Pract
; 22(1): 6, 2024 May 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-38741120