Tamoxifen results in a spectrum of uterine abnormalities including benign alterations such as endometrial polyps, endometrial hyperplasia, endometrial cystic atrophy, adenomyosis, and uterine fibroid growth as well as malignant transformation into endometrial carcinoma and uterine sarcoma[ 4 8 ].
Blood from patients with adnexal benign alterations (n = 10) and ovarian cancer (grade I IV n = 14) were collected after signed consent.
Most of these changes were also found in the phenotypically normal parents, suggesting likely benign alterations; however, the potential clinical relevance of these CNVs remains unknown.
In all cases the ovaries showed benign alterations upon postoperative histological examination (Table 1).
Consequently, reporting detected GALNS alterations facilitates the differentiation of disease-associated alleles from benign alterations and should be encouraged.
All variants, with the exception of benign alterations, were reported for all genes on the panel ordered.
For normal breast tissue, the architecture of ducts, terminal ducts and acini was clearly visible and benign alterations of these structures such as cysts, apocrine metaplasia and fibroadenomas were obvious.
All variants, with the exception of previously characterized benign alterations, underwent thorough assessment and review of available evidence (e.g., population frequency information, published case reports, case/control and functional studies, internal co-occurrence and cosegregation data, evolutionary conservation, and in silico predictions) to arrive at a final variant classification.
In addition, comparing event rates is also challenging and potentially misleading as definitions of ADEs are unclear among studies, ranging from a benign and transient alteration of electrolytes to vital organ damage.
