Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer)
HFA Vasen, G Möslein, A Alonso, I Bernstein… - Journal of medical …, 2007 - jmg.bmj.com
Lynch syndrome (hereditary non-polyposis colorectal cancer) is characterised by the
development of colorectal cancer, endometrial cancer and various other cancers, and is …
development of colorectal cancer, endometrial cancer and various other cancers, and is …
[PDF][PDF] Comprehensive mutation analysis of TSC1 and TSC2—and phenotypic correlations in 150 families with tuberous sclerosis
AC Jones, MM Shyamsundar, MW Thomas… - The American Journal of …, 1999 - cell.com
Tuberous sclerosis (TSC [MIM 191090 and MIM 191100]) is an autosomal dominant
disorder characterized by hamartomas in many organs. Two thirds of cases are sporadic …
disorder characterized by hamartomas in many organs. Two thirds of cases are sporadic …
Tuberous sclerosis complex
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects multiple
organ systems and is caused by loss-of-function mutations in one of two genes: TSC1 or …
organ systems and is caused by loss-of-function mutations in one of two genes: TSC1 or …
Identification of the Tuberous Sclerosis Gene TSC1 on Chromosome 9q34
M Slegtenhorst, R Hoogt, C Hermans, M Nellist… - Science, 1997 - science.org
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the
widespread development of distinctive tumors termed hamartomas. TSC-determining loci …
widespread development of distinctive tumors termed hamartomas. TSC-determining loci …
Inherited variants of MYH associated with somatic G:C→T:A mutations in colorectal tumors
N Al-Tassan, NH Chmiel, J Maynard, N Fleming… - Nature …, 2002 - nature.com
Inherited defects of base excision repair have not been associated with any human genetic
disorder, although mutations of the genes mutM and mutY, which function in Escherichia coli …
disorder, although mutations of the genes mutM and mutY, which function in Escherichia coli …
[HTML][HTML] Updated international tuberous sclerosis complex diagnostic criteria and surveillance and management recommendations
Background Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disease
affecting multiple body systems with wide variability in presentation. In 2013, Pediatric …
affecting multiple body systems with wide variability in presentation. In 2013, Pediatric …
Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts
Lynch syndrome (LS) is characterised by the development of colorectal cancer, endometrial
cancer and various other cancers, and is caused by a mutation in one of the mismatch repair …
cancer and various other cancers, and is caused by a mutation in one of the mismatch repair …
[BOOK][B] Tuberous sclerosis complex
MR Gomez, JR Sampson, VH Whittemore - 1999 - books.google.com
Tuberous Sclerosis is a genetic disease characterized by lesions of the skin and central
nervous system, seizures, and sometimes sever mental retardation. Infants with this disease …
nervous system, seizures, and sometimes sever mental retardation. Infants with this disease …
Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database
P Møller, TT Seppälä, I Bernstein, E Holinski-Feder… - Gut, 2018 - gut.bmj.com
Background Most patients with path_MMR gene variants (Lynch syndrome (LS)) now
survive both their first and subsequent cancers, resulting in a growing number of older …
survive both their first and subsequent cancers, resulting in a growing number of older …
[HTML][HTML] Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database
Purpose Pathogenic variants affecting MLH1, MSH2, MSH6, and PMS2 cause Lynch
syndrome and result in different but imprecisely known cancer risks. This study aimed to …
syndrome and result in different but imprecisely known cancer risks. This study aimed to …