Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility. Genetics in Medicine , 2017 ...

Although biallelic mutations of BRCA1/2 and PALB2 are known to cause Fanconi’s anemia, 16–19 there were no germline mutations or deletions involving the second alleles of these genes in any of ...

A new syndrome caused by biallelic mutations -- those produced in both gene copies inherited from the mother and father -- in the FANCM gene predisposes the body to the appearance of tumors and ...

Biallelic germline mutations in BUB1 cause reduced protein levels.(A) Family pedigrees (based on WES) and Sanger confirmation from primary fibroblasts.

The researchers also found that biallelic genes tend to be located near the centromere, indicating that they’re less likely to undergo recombination, while random allelic genes are more likely to be ...

The multidisciplinary team looked at a genetic mutation called biallelic PI4KA, which impacts B cells in the body (the ones that produce antibodies) and is important for helping our immune system ...

The frequency of colorectal cancer among carriers of biallelic MYH mutations (3 of 6) was greater than that among the other patients in our study (21 of 146; P=0.05 by Fisher's exact test) as well ...

Its safety and efficacy were established in a program involving 41 patients aged 4 to 44 years with confirmed biallelic RPE65 mutations. A Phase 3 study (N=31) ...

Biallelic mutations in the PYGM gene, which encodes for glycogen phosphorylase, cause McArdle disease, with a few cases documented to have hereditary macular dystrophies (HMDs) as an association. In ...