Berkman Jennifer, Maas Ellie J, DeBortoli E, Primiero Clare A, Soyer H Peter, McInerney-Leo Aideen
Frazer Institute, The University of Queensland, Dermatology Research Centre, Brisbane, Queensland, Australia.
Department of Dermatology, Princess Alexandra Hospital, Brisbane, Queensland, Australia.
Pigment Cell Melanoma Res. 2025 Sep;38(5):e70055. doi: 10.1111/pcmr.70055.
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.
本研究报告了在一个四代家系中，致病性CDKN2A变异与黑色素瘤和乳腺癌的共分离情况。18人检测为CDKN2A变异的阳性携带者（n = 10）、确诊携带者（n = 5）或推定携带者（n = 3）。其中11人患有多发性黑色素瘤，初次诊断年龄从十几岁到五十几岁不等。13名女性携带者中有6人患乳腺癌（n = 5检测为阳性，n = 1为推定携带者），诊断年龄从三十几岁到六十几岁不等。其他癌症诊断包括胰腺癌、头颈癌。本研究说明了在遗传背景下，致病性CDKN2A变异与黑色素瘤和乳腺癌同时发生之间可能存在的基因型-表型关联。
