|
Primary malignant neoplasm
|
|
0.020 |
GeneticVariation
|
BEFREE |
Two cancer syndrome gene variants likely to affect native translation initiation were identified by clinical genetic testing: MLH1:c.1A>G p.(Met1?) and BRCA2:c.67+3A>G.
|
24302565 |
2015 |
|
Malignant Neoplasms
|
|
0.020 |
GeneticVariation
|
BEFREE |
Two cancer syndrome gene variants likely to affect native translation initiation were identified by clinical genetic testing: MLH1:c.1A>G p.(Met1?) and BRCA2:c.67+3A>G.
|
24302565 |
2015 |
|
Primary malignant neoplasm
|
|
0.020 |
GeneticVariation
|
BEFREE |
The carcinomas showed microsatellite instability in the presence of MLH1, PMS2, MSH2 and MSH6 proteins, indicating that the variant c.1A>G leads to an alternative protein with reduced activity that is retained in the tumours.Our data suggest that the MSH2 variant c.1A>G (p.Met1?) should not be considered as a regular pathogenic mutation that leads to a strongly increased cancer risk, though it possibly contributes to a more severe phenotype when combined with a truncating mutation on the other allele.
|
18781192 |
2009 |
|
Malignant Neoplasms
|
|
0.020 |
GeneticVariation
|
BEFREE |
The carcinomas showed microsatellite instability in the presence of MLH1, PMS2, MSH2 and MSH6 proteins, indicating that the variant c.1A>G leads to an alternative protein with reduced activity that is retained in the tumours.Our data suggest that the MSH2 variant c.1A>G (p.Met1?) should not be considered as a regular pathogenic mutation that leads to a strongly increased cancer risk, though it possibly contributes to a more severe phenotype when combined with a truncating mutation on the other allele.
|
18781192 |
2009 |
|
Arthrogryposis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Using exome sequencing, we aimed to identify the underlying genetic diagnosis in three fetuses (from one family) with prenatal skin edema, severe IUGR, micrognathia, renal anomalies, and arthrogryposis and identified a homozygous c.1A>C (p.Met1?, NM_006623.3) variant in the PHGDH gene.
|
30838783 |
2019 |
|
Gastrointestinal Stromal Tumors
|
|
0.010 |
GeneticVariation
|
BEFREE |
Germline c.1A>C heterozygous pathogenic variant in <i>SDHA</i> reported for the first time in a young adult with a gastric gastrointestinal stromal tumour (GIST): a case report.
|
31413764 |
2019 |
|
Microphthalmos co-occurrent with congenital ocular coloboma
|
|
0.010 |
GeneticVariation
|
BEFREE |
We performed autozygome analysis and exome sequencing on a multiplex consanguineous family in which colobomatous microphthalmia is associated with profound global developmental delay, intractable seizures, and corpus callosum abnormalities, and we identified a homozygous truncating mutation in C12orf57 [c.1A>G; p.Met1?].
|
23453665 |
2013 |
|
Microphthalmia and mental deficiency
|
|
0.010 |
GeneticVariation
|
BEFREE |
We performed autozygome analysis and exome sequencing on a multiplex consanguineous family in which colobomatous microphthalmia is associated with profound global developmental delay, intractable seizures, and corpus callosum abnormalities, and we identified a homozygous truncating mutation in C12orf57 [c.1A>G; p.Met1?].
|
23453665 |
2013 |
|
Neurofibromatosis 1
|
|
0.010 |
GeneticVariation
|
BEFREE |
Bi-allelic germline mutations in MMR genes predispose to haematological malignancies, brain tumours, gastrointestinal tumours, polyposis and features of neurofibromatosis type 1 in early childhood.We report a brother and a sister with bi-allelic germline mutations in MSH2; a pathogenic deletion of the first 6 exons and a variant of the initiation codon (c.1A>G (p.Met1?)), whereas their phenotypes (four colorectal cancers, small bowel carcinoma and 15 adenomas at age 39 and 48, and colorectal cancer, endometrial cancer and four adenomas at age 33 and 44, respectively) are more suggestive of a mono-allelic pathogenic MMR gene mutation.
|
18781192 |
2009 |
|
Neoplasms
|
|
0.010 |
GeneticVariation
|
BEFREE |
The carcinomas showed microsatellite instability in the presence of MLH1, PMS2, MSH2 and MSH6 proteins, indicating that the variant c.1A>G leads to an alternative protein with reduced activity that is retained in the tumours.Our data suggest that the MSH2 variant c.1A>G (p.Met1?) should not be considered as a regular pathogenic mutation that leads to a strongly increased cancer risk, though it possibly contributes to a more severe phenotype when combined with a truncating mutation on the other allele.
|
18781192 |
2009 |
|
Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
The carcinomas showed microsatellite instability in the presence of MLH1, PMS2, MSH2 and MSH6 proteins, indicating that the variant c.1A>G leads to an alternative protein with reduced activity that is retained in the tumours.Our data suggest that the MSH2 variant c.1A>G (p.Met1?) should not be considered as a regular pathogenic mutation that leads to a strongly increased cancer risk, though it possibly contributes to a more severe phenotype when combined with a truncating mutation on the other allele.
|
18781192 |
2009 |