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Case Reports: Findings that shed new light on the possible pathogenesis of a disease
Rare MYC-N11S germline mutation indicative of inherited breast cancer in a multigeneration family
  1. Laura Budurlean1,
  2. Maria Baker2 and
  3. James Broach1
  1. 1Biochemistry & Molecular Biology, Penn State College of Medicine, Hershey, Pennsylvania, USA
  2. 2Penn State Health Milton S Hershey Medical Center, Hershey, Pennsylvania, USA
  1. Correspondence to Dr Maria Baker; mbaker{at}pennstatehealth.psu.edu

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.

  • Breast cancer
  • Cancer intervention
  • Genetics
  • Genetic screening / counselling

https://doi.org/10.1136/bcr-2022-251336

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    Footnotes

    • Contributors LB: conducting sequencing, writing and editing of manuscript. MB: genetic counselor/medical geneticist, writing and editing of manuscript. JB: writing and editing of manuscript.

    • Funding This study was funded by Penn State Biomedical Big Data to Knowledge (B2D2K) Training Program (5T32LM012415-04).

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.

    • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.