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1.
Update of penetrance estimates in Birt-Hogg-Dubé syndrome.
J Med Genet
; 60(4): 317-326, 2023 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-36849229
2.
Non-BRCA1/BRCA2 high-risk familial breast cancers are not associated with a high prevalence of BRCAness.
Breast Cancer Res
; 25(1): 69, 2023 06 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-37316882
3.
Associations of height, body mass index, and weight gain with breast cancer risk in carriers of a pathogenic variant in BRCA1 or BRCA2: the BRCA1 and BRCA2 Cohort Consortium.
Breast Cancer Res
; 25(1): 72, 2023 06 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-37340476
4.
Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.
PLoS Genet
; 16(12): e1009231, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-33332384
5.
Clinical implications of genetic testing in familial intermediate and late-onset colorectal cancer.
Hum Genet
; 141(12): 1925-1933, 2022 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-35904628
6.
Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants.
Genet Med
; 24(1): 119-129, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34906479
7.
Tumour-infiltrating CD4-, CD8- and FOXP3-positive immune cells as predictive markers of mortality in BRCA1- and BRCA2-associated breast cancer.
Br J Cancer
; 125(10): 1388-1398, 2021 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-34365471
8.
Cancer prevention with aspirin in hereditary colorectal cancer (Lynch syndrome), 10-year follow-up and registry-based 20-year data in the CAPP2 study: a double-blind, randomised, placebo-controlled trial.
Lancet
; 395(10240): 1855-1863, 2020 06 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-32534647
9.
The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant.
Genet Med
; 23(9): 1726-1737, 2021 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-34113011
10.
Whole genome sequencing identifies rare germline variants enriched in cancer related genes in first degree relatives of familial pancreatic cancer patients.
Clin Genet
; 100(5): 551-562, 2021 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-34313325
11.
Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort study.
Am J Obstet Gynecol
; 225(1): 51.e1-51.e17, 2021 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-33493488
12.
Cohort profile and heritability assessment of familial pancreatic cancer: a nation-wide study.
Scand J Gastroenterol
; 56(8): 965-971, 2021 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-34165379
13.
Birth cohort-specific trends of sun-related behaviors among individuals from an international consortium of melanoma-prone families.
BMC Public Health
; 21(1): 692, 2021 04 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-33888076
14.
Correction to: Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers.
Breast Cancer Res
; 22(1): 25, 2020 Feb 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-32102695
15.
Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers.
Breast Cancer Res
; 22(1): 8, 2020 01 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-31948486
16.
Breast cancer survival in Nordic BRCA2 mutation carriers-unconventional association with oestrogen receptor status.
Br J Cancer
; 123(11): 1608-1615, 2020 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-32939053
17.
A rare missense variant in APC interrupts splicing and causes AFAP in two Danish families.
Hered Cancer Clin Pract
; 18: 8, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32292534
18.
Toward mechanistic models for genotype-phenotype correlations in phenylketonuria using protein stability calculations.
Hum Mutat
; 40(4): 444-457, 2019 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30648773
19.
Estimating CDKN2A mutation carrier probability among global familial melanoma cases using GenoMELPREDICT.
J Am Acad Dermatol
; 81(2): 386-394, 2019 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-30731170
20.
The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium.
J Med Genet
; 55(1): 15-20, 2018 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-28490613