Sentence examples for mutations were sporadic from inspiring English sources

Three patients with BRCA1/2 mutations were sporadic at the time of diagnosis and one patient had only a paternal grandmother with breast cancer aged 65 years.

Thus far, all imprinting defects with undetectable mutations have been sporadic events.

Regardless of whether a patient carries a known ALS-associated gene mutation or is sporadic without a known mutation, disease progression is similar clinically (McGoldrick et al., 2013), suggesting that the underlying motor neuron dysfunction is related.

No mutations were observed in sporadic glial and glioneuronal tumours or renal cell carcinomas (66, 67).

Two mutations were identified in sporadic cases where they occurred in a mutually exclusive manner in over 70% of cases.

Two of them can lead to autosomal-dominant cataracts, another three can cause autosomal-recessive cataracts, and the remaining two mutations were found in sporadic cases.

> -wrap-foot> methylmethyl CpG binding protein-2 mutationsareons are mostly sporadic, occurring preferentially as C>T transitions of CpG dinucleotides and preferentially on the paternal X chromosome [ 3, 4].

No mutations were found in six sporadic patients with multiple primary breast cancers, neither in five sporadic ovarian cancer patients with early-onset disease nor in four sporadic males with breast cancer.

In patients with a family history of breast/ovarian cancer, significantly more mutations were identified compared to sporadic patients (71 mutations in 291 unrelated families (24.4%) and four mutations in 58 sporadic patients (6.9%); P=0.003).

These novel point mutations appear to be sporadic, and each was shown to be confined to a specific geographic region.

We found that ten sporadic mutations (single occurrences) were present in the tRNA plus rRNA genes from AD mtDNA sequences, while only two sporadic mutations were found in the same genes from controls.