Abstract

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.

Original languageEnglish (US)
Article numbere251336
JournalBMJ case reports
Volume15
Issue number11
DOIs
StatePublished - Nov 11 2022

All Science Journal Classification (ASJC) codes

  • General Medicine

Fingerprint

Dive into the research topics of 'Rare MYC-N11S germline mutation indicative of inherited breast cancer in a multigeneration family'. Together they form a unique fingerprint.

Cite this