Rare presentations can suggest more than one rare condition: Striking personal and family cancer history in a patient with both CDKN2A and BRCA1 pathogenic variants

Nicole Trupiano; Erika Koeppe; Michelle F Jacobs; Tobias Else; Kelly B Cha

doi:10.1016/j.jdcr.2022.10.034

Rare presentations can suggest more than one rare condition: Striking personal and family cancer history in a patient with both CDKN2A and BRCA1 pathogenic variants

JAAD Case Rep. 2022 Nov 7:31:42-45. doi: 10.1016/j.jdcr.2022.10.034. eCollection 2023 Jan.

Authors

Nicole Trupiano¹, Erika Koeppe², Michelle F Jacobs², Tobias Else³, Kelly B Cha¹

Affiliations

¹ Department of Dermatology, Michigan Medicine, Ann Arbor, Michigan.
² Department of Internal Medicine, Michigan Medicine, Ann Arbor, Michigan.
³ Department of Internal Medicine, Division of Metabolism, Endocrinology and Diabetes, Michigan Medicine, Ann Arbor, Michigan.

No abstract available

Keywords: BRCA1; CDKN2A; EUS, endoscopic ultrasound; MIS, melanoma in situ; MRCP, magnetic resonance cholangiopancreatography; MRI, magnetic resonance imaging; SCC, squamous cell carcinoma; cancer predisposition; cancer screening; familial melanoma; multiple melanoma; multiple pathogenic variants.

Publication types

Case Reports

Grants and funding

T35 HL007690/HL/NHLBI NIH HHS/United States