Pathologic Findings at Risk Reducing Surgery in BRCA and Non- BRCA Mutation Carriers: A Single-Center Experience.
Chiara CassaniChiara RossiCristina Angela CamnasioMario UrtisGiacomo FiandrinoMaurizia GrassoFrancesca ZanelliniMarco LucioniGioacchino D'AmbrosioAlessandro Di ToroMargherita RossiMarianna RoccioAlberta FerrariSimona SecondinoRossella Elena NappiArbustini EloisaMarco PaulliArsenio SpinilloStefania CesariPublished in: Diagnostics (Basel, Switzerland) (2022)
Risk-reducing surgery (RRS) is recommended in BRCA-mutated carriers because of their increased risk of developing ovarian cancer, while its role is still discussed for women harboring mutations in non- BRCA homologous repair genes. The aim of this study was to retrospectively evaluate the occurrence of pathological findings in a high-risk population undergoing RRS in San Matteo Hospital, Pavia between 2012 and 2022, and correlate their genetic and clinical outcomes, comparing them with a control group. The final cohort of 190 patients included 85 BRCA1 , 63 BRCA2 , 11 CHEK2 , 7 PALB2 , 4 ATM , 1 ERCC5 , 1 RAD51C , 1 CDH1 , 1 MEN1, 1 MLH1 gene mutation carriers and 15 patients with no known mutation but with strong familial risk. Occult invasive serous carcinoma (HGSC) and serous tubal intraepithelial carcinoma (STIC) were diagnosed in 12 (6.3%) women, all of them BRCA carriers. No neoplastic lesion was diagnosed in the non- BRCA group, in women with familial risk, or in the control group. Oral contraceptive use and age ≤45 at surgery were both found to be favorable factors. While p53 signature and serous tubal intraepithelial lesion (STIL) were also seen in the control group and in non- BRCA carriers, STIC and HGSC were only found in BRCA1/2 mutation carriers.
Keyphrases
- breast cancer risk
- high grade
- minimally invasive
- dna repair
- dna damage
- coronary artery bypass
- end stage renal disease
- polycystic ovary syndrome
- emergency department
- genome wide
- risk assessment
- chronic kidney disease
- squamous cell carcinoma
- oxidative stress
- adipose tissue
- ejection fraction
- radiation therapy
- percutaneous coronary intervention
- peritoneal dialysis
- coronary artery disease
- transcription factor
- electronic health record
- pregnancy outcomes