Rare MYC-N11S germline mutation indicative of inherited breast cancer in a multigeneration family.
Laura BudurleanMaria BakerJames BroachPublished in: BMJ case reports (2022)
We present a case of unexplained familial breast cancer (BC) from six family members, including four affected and two unaffected women, for whom clinical genetic testing panels were inconclusive. Exome sequencing data revealed heterozygous and rare germline variants to be inherited in an autosomal dominant manner in the family, in addition to several unclassified mutations in DNA repair and cell cycle-regulating genes that were not included in the family's clinical genetic testing. A rare MYC-N11S germline mutation with conflicting interpretations of pathogenicity in the literature, and predicted to be deleterious, was present in all affected individuals. Whole exome sequencing provided a more comprehensive picture of inherited BC in this family that was missed by cancer gene panels alone.
Keyphrases
- dna repair
- cell cycle
- dna damage
- copy number
- dna damage response
- genome wide
- cell proliferation
- systematic review
- single cell
- early onset
- transcription factor
- young adults
- polycystic ovary syndrome
- genome wide identification
- electronic health record
- escherichia coli
- breast cancer risk
- staphylococcus aureus
- big data
- dna methylation
- artificial intelligence
- skeletal muscle