Search details
1.
Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel.
Genet Med
; 26(2): 100992, 2024 Feb.
Article
in English
| MEDLINE | ID: mdl-37800450
2.
Merged testing for colorectal cancer syndromes and re-evaluation of genetic variants improve diagnostic yield: Results from a nationwide prospective cohort.
Genes Chromosomes Cancer
; 61(10): 585-591, 2022 10.
Article
in English
| MEDLINE | ID: mdl-35430768
3.
Identification of known and novel familial cancer genes in Swedish colorectal cancer families.
Int J Cancer
; 149(3): 627-634, 2021 08 01.
Article
in English
| MEDLINE | ID: mdl-33729574
4.
Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition.
Genet Med
; 21(8): 1868-1873, 2019 08.
Article
in English
| MEDLINE | ID: mdl-30573798
5.
GREM1 and POLE variants in hereditary colorectal cancer syndromes.
Genes Chromosomes Cancer
; 55(1): 95-106, 2016 Jan.
Article
in English
| MEDLINE | ID: mdl-26493165
6.
Systematic large-scale application of ClinGen InSiGHT APC -specific ACMG/AMP variant classification criteria substantially alleviates the burden of variants of uncertain significance in ClinVar and LOVD databases.
medRxiv
; 2024 May 04.
Article
in English
| MEDLINE | ID: mdl-38746299
7.
Diagnostic yield and clinical impact of germline sequencing in children with CNS and extracranial solid tumors-a nationwide, prospective Swedish study.
Lancet Reg Health Eur
; 39: 100881, 2024 Apr.
Article
in English
| MEDLINE | ID: mdl-38803632
8.
BRCA1 gene mutations may explain more than 80% of excess number of ovarian cancer cases after breast cancer - a population based study from the Western Sweden Health Care region.
Acta Oncol
; 49(3): 361-7, 2010 Apr.
Article
in English
| MEDLINE | ID: mdl-20151938
9.
Parallel sequencing used in detection of mosaic mutations: comparison with four diagnostic DNA screening techniques.
Hum Mutat
; 30(6): 1012-20, 2009 Jun.
Article
in English
| MEDLINE | ID: mdl-19347965
10.
Update on genetic predisposition to colorectal cancer and polyposis.
Mol Aspects Med
; 69: 10-26, 2019 10.
Article
in English
| MEDLINE | ID: mdl-30862463
11.
Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families.
BMC Med
; 6: 10, 2008 Apr 24.
Article
in English
| MEDLINE | ID: mdl-18433509
12.
No germline mutations in supposed tumour suppressor genes SAFB1 and SAFB2 in familial breast cancer with linkage to 19p.
BMC Med Genet
; 9: 108, 2008 Dec 13.
Article
in English
| MEDLINE | ID: mdl-19077293
13.
Occurrence of both breast and ovarian cancer in a woman is a marker for the BRCA gene mutations: a population-based study from western Sweden.
Fam Cancer
; 6(1): 35-41, 2007.
Article
in English
| MEDLINE | ID: mdl-16944270
14.
Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing.
Fam Cancer
; 16(2): 195-203, 2017 04.
Article
in English
| MEDLINE | ID: mdl-27696107
15.
Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy.
Neuromuscul Disord
; 16(12): 830-8, 2006 Dec.
Article
in English
| MEDLINE | ID: mdl-17049859
16.
Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.
Oncol Rep
; 36(5): 2823-2835, 2016 Nov.
Article
in English
| MEDLINE | ID: mdl-27601186
17.
Nuclear accumulation of full-length and truncated adenomatous polyposis coli protein in tumor cells depends on proliferation.
Oncogene
; 22(38): 6013-22, 2003 Sep 04.
Article
in English
| MEDLINE | ID: mdl-12955080
18.
A high frequency of germline BRCA1/2 mutations in western Sweden detected with complementary screening techniques.
Fam Cancer
; 4(2): 89-96, 2005.
Article
in English
| MEDLINE | ID: mdl-15951958
19.
Identification of genomic deletions of the APC gene in familial adenomatous polyposis by two independent quantitative techniques.
Genet Test
; 8(3): 248-56, 2004.
Article
in English
| MEDLINE | ID: mdl-15727247
20.
Genotype-phenotype correlations, and retinal function and structure in von Hippel-Lindau disease.
Ophthalmic Genet
; 35(2): 91-106, 2014 Jun.
Article
in English
| MEDLINE | ID: mdl-24555745