In summary, SDH-deficient RCC is a recently described rare tumor associated with SDH gene germline mutation
that is also associated with paraganglioma/pheochromocytoma, gastrointestinal stromal tumor, or pituitary adenoma.
This provides simultaneous analysis of multiple genes in a single test, in patients diagnosed with endometrial cancer younger than 50 years of age, to present the frequency of germline mutations
in MMR genes.
in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan.
Molecular oncology center staff who investigate genomics science and precision medicine are studying the effects of different somatic and germline mutations
Genetic counseling should be recommended for antenatal diagnosis of SMARCB1 mutation, and preimplantation screening may be discussed in cases of germline mutation
Qin et al., "A germline mutation
of the KIF1B[beta] gene on 1p36 in a family with neural and nonneural tumors," Human Genetics, vol.
Patients harboring germline mutations
, such as BRCA1 or BRCA2 and TP53 (Li-Fraumeni syndrome) or ATM, are often at higher risk of developing cancers, since every cell in the body has an existing mutation.
As many as 60-70% patients who fulfill the AC criteria in the clinical and MMR deficiency in the tumor but for whom germline testing lacks a detectable germline mutation
are defined as having "Lynch-like syndrome" .
have been identified in more than 15 well-characterized genes, such as VHL, SDHB, SDHD, NF1, and RET .
Stomach can thus be considered as a target tissue in which somatic inactivation ("second hit") of MMR genes may occur in carriers of a germline mutation
("first hit") [34, 35].
Positive immunostaining for SDHB suggests that the patient does not have a germline mutation
that caused her paraganglioma; however, the significance of intratumoral heterogeneity is unclear, and therefore genetic counseling and the option of genetic testing were recommended.
With the patient's advanced age and these molecular findings, the tumor was compatible with a sporadic mutation and not a germline mutation