Saskia E. van Mil

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Mutations in the progranulin (PGRN) gene have recently been identified in frontotemporal lobar degeneration with ubiquitin inclusions linked to chromosome 17q21. We report here the finding of two novel frameshift mutations and three possible pathogenic missense mutations in the PGRN gene. Furthermore, we determined the frequency of PGRN mutations in(More)
BRCA2 and PALB2 function together in the Fanconi anemia (FA)–Breast Cancer (BRCA) pathway. Mono-allelic and bi-allelic BRCA2 and PALB2 mutation carriers share many clinical characteristics. Mono-allelic germline mutations of BRCA2 and PALB2 are risk alleles of female breast cancer and have also been reported in familial pancreatic cancer, and bi-allelic(More)
PALB2-mutation carriers not only have an increased risk for breast cancer (BC) but also for pancreatic cancer (PC). Thus far, PALB2 mutations have been mainly found in PC patients from families affected by both PC and BC. As it is well known that the prevalence of gene mutations varies between different populations, we studied the prevalence of PALB2(More)
Maarten P.G. Massink1, Irsan E. Kooi1, Saskia E. van Mil1, Ekaterina S. Jordanova2, Najim Ameziane1, Josephine C. Dorsman1, Daphne M. van Beek1, J. Patrick van der Voorn3, Daoud Sie3, Bauke Ylstra3, Carolien H.M. van Deurzen 4 , John W. Martens 5 , Marcel Smid 5 , Anieta M. Sieuwerts 5 , Vanja de Weerd 5 , John A. Foekens 5 , Ans M.W. van den Ouweland 6 ,(More)
Chapter 5 Whole exome sequencing of germline DNA from familial non-BRCA1/2 breast cancer cases with a homogeneous tumour profile 110 Abstract Introduction A large proportion of familial breast cancer susceptibility is still unexplained. Inherited germline mutations in the high-risk BRCA1, BRCA2, and PALB2 genes account for approximately 10 to 20 percent of(More)
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