Familial Cancer

Title Publication Date Language Citations
Letter to the editor2018/01/12English
Development of a novel PTT assay for mutation detection in PALB2 large exons and PALB2 screening in medullary breast cancer2015/11/14English
18th annual meeting: Collaborative Group of the Americas on Inherited Colorectal Cancer (CGA-ICC)2014/11/16English
BRCA1 allele-specific expression in genetic predisposed breast/ovarian cancer2016/10/25English
Truncation of the MSH2 C-terminal 60 amino acids disrupts effective DNA mismatch repair and is causative for Lynch syndrome2016/11/21English
Ovarian small cell carcinoma in one of a pair of monozygous twins2018/10/04English
Detecting inversions in routine molecular diagnosis in MMR genes2022/01/08English
Prevalence of FANCM germline variants in BRCA1/2 negative breast and/or ovarian cancer patients from Pakistan2022/07/08English
A PMS2 non-canonical splicing site variant leads to aberrant splicing in a patient suspected for lynch syndrome2022/11/29English
Two unique BAP1 pathogenic variants identified in the same family by panel cascade testing2022/12/14English
A novel founder MSH2 deletion in Ethiopian Jews is mainly associated with early-onset colorectal cancer2021/04/10English
Disclosure of genetic risk to dating partners among young adults with von Hippel-Lindau disease2022/08/19English
Genetic evaluation of patients and families with concern for hereditary endocrine tumor syndromes2021/01/07English
The CAPP II trial of aspirin in Lynch syndrome/HNPCC: is it time for everyone to be treated?2021/01/01English
Eighth International Symposium on hereditary breast and ovarian cancer2021/09/15English
Fibroadenoma in vulval ectopic breast tissue in a patient with PTEN Hamartoma Tumour Syndrome2021/09/15English
Next-generation universal hereditary cancer screening: implementation of an automated hereditary cancer screening program for patients with advanced cancer undergoing tumor sequencing in a large HMO2022/10/20English
InSiGHT 2022 Abstract Publishing and Best Abstract Awards2022/10/01English
12th international meeting on psychosocial aspects of hereditary cancer (IMPAHC)2011/04/01English
The Third Birt-Hogg-Dubé Symposium, Maastricht, the Netherlands, May 11th and 12th, 20112011/04/20English
The Fourth Birt–Hogg–Dubé Symposium, Cincinnati, USA, 28th–30th March, 20122012/07/03English
Abstracts2013/09/01English
Is intraductal tubulopapillary neoplasia a new entity in the spectrum of familial pancreatic cancer syndrome?2013/12/08English
Part II Regular Articles2006/06/01English
Part I Special Issue: Breast Cancer Treatment and Genetics2006/06/01English
Impact of a Cancer Registry-Based Genealogy Service to Support Clinical Genetics Services2002/01/01English
A Homozygous MSH6 Mutation in a Child with Café-au-Lait Spots, Oligodendroglioma and Rectal Cancer2002/01/01English
Abstracts of the ESO Inside Track Conference on Familial Cancer, CNIO, Madrid, Spain, 6–7 May 20042002/01/01English
Prognosis in DNA Mismatch Repair Deficient Colorectal Cancer: are all MSI Tumours Equivalent?2002/01/01English
Promoter Hypermethylation Frequency and BRAF Mutations Distinguish Hereditary Non-Polyposis Colon Cancer from Sporadic MSI-H Colon Cancer2002/01/01English