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1.
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
2.
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
3.
Breast cancer after ovarian cancer in BRCA1 and BRCA2 pathogenic variant heterozygotes: lower rates for 5-years post chemotherapy.
Genet Med
; : 101172, 2024 Jun 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-38847192
4.
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
5.
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
6.
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
7.
UK recommendations for SDHA germline genetic testing and surveillance in clinical practice.
J Med Genet
; 60(2): 107-111, 2023 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-35260474
8.
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
9.
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
10.
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
11.
Breast cancer polygenic risk scores derived in White European populations are not calibrated for women of Ashkenazi Jewish descent.
Genet Med
; 25(9): 100846, 2023 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-37061873
12.
Advances in genetic technologies result in improved diagnosis of mismatch repair deficiency in colorectal and endometrial cancers.
J Med Genet
; 59(4): 328-334, 2022 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-33452216
13.
High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer.
J Med Genet
; 59(2): 115-121, 2022 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-33758026
14.
Uptake and efficacy of bilateral risk reducing surgery in unaffected female BRCA1 and BRCA2 carriers.
J Med Genet
; 59(2): 133-140, 2022 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-33568438
15.
BRCA1/2 in non-mucinous epithelial ovarian cancer: tumour with or without germline testing?
Br J Cancer
; 127(1): 163-167, 2022 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-35260807
16.
High detection rate from genetic testing in BRCA-negative women with familial epithelial ovarian cancer.
Genet Med
; 24(12): 2578-2586, 2022 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-36169650
17.
Reclassification of clinically-detected sequence variants: Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK).
Genet Med
; 24(9): 1867-1877, 2022 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-35657381
18.
Breast cancer risk stratification in women of screening age: Incremental effects of adding mammographic density, polygenic risk, and a gene panel.
Genet Med
; 24(7): 1485-1494, 2022 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-35426792
19.
Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.
Genet Med
; 24(1): 41-50, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34906457
20.
Targeting lung cancer screening to individuals at greatest risk: the role of genetic factors.
J Med Genet
; 58(4): 217-226, 2021 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-33514608