User profiles for Saskia Haupt
 | Saskia HauptHeidelberg University Verified email at uni-heidelberg.de Cited by 248 |
[HTML][HTML] The shared frameshift mutation landscape of microsatellite-unstable cancers suggests immunoediting during tumor evolution
…, MJ Przybilla, M Jendrusch, S Haupt… - Nature …, 2020 - nature.com
The immune system can recognize and attack cancer cells, especially those with a high load
of mutation-induced neoantigens. Such neoantigens are abundant in DNA mismatch repair …
of mutation-induced neoantigens. Such neoantigens are abundant in DNA mismatch repair …
[HTML][HTML] Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch …
Objective To compare colorectal cancer (CRC) incidences in carriers of pathogenic variants
of the MMR genes in the PLSD and IMRC cohorts, of which only the former included …
of the MMR genes in the PLSD and IMRC cohorts, of which only the former included …
[HTML][HTML] Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a …
Background The Prospective Lynch Syndrome Database (PLSD) collates information on
carriers of pathogenic or likely pathogenic MMR variants (path_MMR) who are receiving …
carriers of pathogenic or likely pathogenic MMR variants (path_MMR) who are receiving …
Is HLA type a possible cancer risk modifier in Lynch syndrome?
Lynch syndrome (LS) is the most common inherited cancer syndrome. It is inherited via a
monoallelic germline variant in one of the DNA mismatch repair (MMR) genes. LS carriers have …
monoallelic germline variant in one of the DNA mismatch repair (MMR) genes. LS carriers have …
Opportunities and challenges in machine learning‐based newborn screening—A systematic literature review
The development and continuous optimization of newborn screening (NBS) programs remains
an important and challenging task due to the low prevalence of screened diseases and …
an important and challenging task due to the low prevalence of screened diseases and …
Age‐dependent performance of BRAF mutation testing in Lynch syndrome diagnostics
H Bläker, S Haupt, M Morak… - … journal of cancer, 2020 - Wiley Online Library
BRAF V600E mutations have been reported as a marker of sporadic microsatellite instability
(MSI) colorectal cancer (CRC). Current international diagnostic guidelines recommend …
(MSI) colorectal cancer (CRC). Current international diagnostic guidelines recommend …
A “Two-in-One hit” model of shortcut carcinogenesis in MLH1 Lynch syndrome carriers
…, S Graf, G Kristiansen, O Hommerding, S Haupt… - …, 2023 - gastrojournal.org
The clinical presentation of Lynch syndrome (LS), the most common inherited cancer
syndrome, varies depending on the affected mismatch repair (MMR) gene. Although both MLH1 …
syndrome, varies depending on the affected mismatch repair (MMR) gene. Although both MLH1 …
[HTML][HTML] Dominantly inherited micro-satellite instable cancer–the four Lynch syndromes-an EHTG, PLSD position statement
The recognition of dominantly inherited micro-satellite instable (MSI) cancers caused by
pathogenic variants in one of the four mismatch repair (MMR) genes MSH2, MLH1, MSH6 and …
pathogenic variants in one of the four mismatch repair (MMR) genes MSH2, MLH1, MSH6 and …
[HTML][HTML] Mathematical modeling of multiple pathways in colorectal carcinogenesis using dynamical systems with Kronecker structure
Like many other types of cancer, colorectal cancer (CRC) develops through multiple pathways
of carcinogenesis. This is also true for colorectal carcinogenesis in Lynch syndrome (LS), …
of carcinogenesis. This is also true for colorectal carcinogenesis in Lynch syndrome (LS), …
[HTML][HTML] Machine learning methods improve specificity in newborn screening for isovaleric aciduria
Isovaleric aciduria (IVA) is a rare disorder of leucine metabolism and part of newborn screening
(NBS) programs worldwide. However, NBS for IVA is hampered by, first, the increased …
(NBS) programs worldwide. However, NBS for IVA is hampered by, first, the increased …