Article Text
Statistics from Altmetric.com
Editor—More than 50 cases have been described with inv dup(8p) which can be either di- or monocentric.1-4 A rough estimate of the prevalence of both is 1/22 000-30 000 of the white population. Concurrently with the 8p duplication, markers at the tip of chromosome 8 are consistently deleted. All the cases described are associated with mental retardation, facial dysmorphism, brain defects and/or developmental delay. Allele loss and amplifications of regions of chromosome 8p are commonly reported in sporadic breast cancer,5-7 and two recent papers have suggested linkage to 8p11-12 in familial breast cancer.5-8 We report a case of 8p duplication and inversion in a woman who developed breast cancer at the age of 36, with a personal history of developmental abnormality and a family history of breast and other cancers. Because of the possible link between this chromosomal abnormality and a breast cancer predisposing gene on chromosome 8p, …