Jennifer Berkman, Ellie J. Maas, E. DeBortoli, Clare A. Primiero, H. Peter Soyer, Aideen McInerney-Leo
{"title":"Germline CDKN2A Variant Cascade Testing Across Four Generations Reveals Familial Melanoma–Breast Cancer Genotype–Phenotype Correlation","authors":"Jennifer Berkman, Ellie J. Maas, E. DeBortoli, Clare A. Primiero, H. Peter Soyer, Aideen McInerney-Leo","doi":"10.1111/pcmr.70055","DOIUrl":null,"url":null,"abstract":"<p>This study reports co-segregation of a pathogenic <i>CDKN2A</i> variant with both melanoma and breast cancer in a four-generation pedigree. Eighteen individuals were test positive (<i>n</i> = 10), obligate (<i>n</i> = 5) or assumed carriers (<i>n</i> = 3) of the <i>CDKN2A</i> variant. Eleven of these had multiple melanomas, with initial diagnoses from teens to fifties. Six of thirteen female carriers had breast cancer (<i>n</i> = 5 test positive, <i>n</i> = 1 assumed carrier), with diagnoses ranging from thirties to sixties. Additional cancer diagnoses included pancreatic, and head and neck cancers. This study illustrates a possible genotype–phenotype association between a pathogenic <i>CDKN2A</i> variant and the co-occurrence of melanoma and breast cancer in a hereditary context.</p>","PeriodicalId":219,"journal":{"name":"Pigment Cell & Melanoma Research","volume":"38 5","pages":""},"PeriodicalIF":2.6000,"publicationDate":"2025-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/pcmr.70055","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pigment Cell & Melanoma Research","FirstCategoryId":"3","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1111/pcmr.70055","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"CELL BIOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
This study reports co-segregation of a pathogenic CDKN2A variant with both melanoma and breast cancer in a four-generation pedigree. Eighteen individuals were test positive (n = 10), obligate (n = 5) or assumed carriers (n = 3) of the CDKN2A variant. Eleven of these had multiple melanomas, with initial diagnoses from teens to fifties. Six of thirteen female carriers had breast cancer (n = 5 test positive, n = 1 assumed carrier), with diagnoses ranging from thirties to sixties. Additional cancer diagnoses included pancreatic, and head and neck cancers. This study illustrates a possible genotype–phenotype association between a pathogenic CDKN2A variant and the co-occurrence of melanoma and breast cancer in a hereditary context.
期刊介绍：
Pigment Cell & Melanoma Researchpublishes manuscripts on all aspects of pigment cells including development, cell and molecular biology, genetics, diseases of pigment cells including melanoma. Papers that provide insights into the causes and progression of melanoma including the process of metastasis and invasion, proliferation, senescence, apoptosis or gene regulation are especially welcome, as are papers that use the melanocyte system to answer questions of general biological relevance. Papers that are purely descriptive or make only minor advances to our knowledge of pigment cells or melanoma in particular are not suitable for this journal. Keywords
Pigment Cell & Melanoma Research, cell biology, melatonin, biochemistry, chemistry, comparative biology, dermatology, developmental biology, genetics, hormones, intracellular signalling, melanoma, molecular biology, ocular and extracutaneous melanin, pharmacology, photobiology, physics, pigmentary disorders
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
