Fertility Counseling in BRCA1/2 -Mutated Women with Breast Cancer and Healthy Individuals.
Joanna Kufel-GrabowskaAmira PodolakDaniel MaliszewskiMikołaj BartoszkiewiczRodryg RamlauKrzysztof LukaszukPublished in: Journal of clinical medicine (2022)
Breast cancer is the most commonly diagnosed cancer worldwide and the fifth leading cause of cancer death. In 2020, there were 2.3 million new cases, and 685,000 women died from it. Breast cancer among young women under 40 years of age accounts for 5% to 10% of all cases of this cancer. The greater availability of multi-gene sequence analysis by next-generation sequencing has improved diagnosis and, consequently, the possibility of using appropriate therapeutic approaches in BRCA1/2 gene mutation carriers. Treatment of young breast cancer patients affects their reproductive potential by reducing ovarian reserve. It can lead to reversible or permanent premature menopause, decreased libido, and other symptoms of sex hormone deficiency. This requires that, in addition to oncological treatment, patients are offered genetic counseling, oncofertility, psychological assistance, and sexological counseling. Given the number of BRCA1/2 gene mutation carriers among young breast cancer patients, but also thanks to growing public awareness, among their healthy family members planning offspring, the possibility of benefiting from preimplantation testing and performing cancer-risk-reduction procedures: RRM (risk-reducing mastectomy) and RRSO (risk-reducing salpingo-oophorectomy) significantly increase the chance of a genetically burdened person living a healthy life and giving birth to a child not burdened by the parent's germline mutation. The goal of this paper is to show methods and examples of fertility counselling for BRCA1/2 gene mutation carriers, including both patients already affected by cancer and healthy individuals.
Keyphrases
- papillary thyroid
- breast cancer risk
- end stage renal disease
- childhood cancer
- squamous cell
- newly diagnosed
- chronic kidney disease
- peritoneal dialysis
- ejection fraction
- healthcare
- copy number
- prostate cancer
- metabolic syndrome
- mental health
- smoking cessation
- risk assessment
- prognostic factors
- emergency department
- replacement therapy
- young adults
- polycystic ovary syndrome
- physical activity
- high fat diet
- rectal cancer
- adipose tissue
- hiv testing
- middle aged
- climate change
- dna repair
- transcription factor
- patient reported
- dna damage
- adverse drug
- gestational age
- circulating tumor
- preterm birth
- amino acid
- cell free