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Journal Article
Scientific Reports, ISSN 2045-2322, 2019, Volume 9, Issue 1, pp. 9814 - 10
Attenuated adenomatous polyposis (AAP) is a heterogeneous syndrome in terms of clinical manifestations, heritability and etiology of the disease. Genetic... 
GLYCOSYLASE | GENOMICS | VARIANTS | HEREDITARY | MULTIDISCIPLINARY SCIENCES | GERMLINE MUTATIONS | POLE | PHENOTYPIC SPECTRUM | COLORECTAL ADENOMAS | Genetic variance | Next-generation sequencing | Splicing | Etiology | Heritability | Adenoma | Ribonucleic acid--RNA | Patients | Genetic screening
Journal Article
Journal Article
Cancer Cell, ISSN 1535-6108, 02/2019, Volume 35, Issue 2, pp. 256 - 266.e5
Biallelic germline mutations affecting predispose carriers to adenomatous polyposis and colorectal cancer, but the complete phenotype is unknown. We describe... 
adenomatous polyposis | colorectal cancer | somatic mutation spectrum | NTHL1 | base excision repair | genetic predisposition | DNA repair defect | breast cancer | multiple malignancies | mutational signature | ONCOLOGY | POLYPOSIS | GERMLINE MUTATIONS | RISK | LYNCH SYNDROME | SPECTRUM | CANCER | MUTYH | CELL BIOLOGY | Analysis | Genetic aspects | Tumors
Journal Article
Journal Article
Journal Article
Nature Genetics, ISSN 1061-4036, 2017, Volume 49, pp. 1148 - 1151
Journal Article
Molecular Cancer, ISSN 1476-4598, 2018, Volume 17
Germline mutations in BUB1 and BUB3 have been reported to increase the risk of developing colorectal cancer (CRC) at young age, in presence of variegated... 
Malalties hereditàries | Genètica mèdica | Càncer colorectal | Genetic diseases | Colorectal cancer | Medical genetics
Journal Article
Journal Article