In our opinion, this follow-up regimen should also be offered to CHEK2 1100delC mutation carriers after breast cancer diagnosis.
Counselling should be offered to ensure BRCA1/2 mutation carriers make an informed decision about managing their ovarian cancer risk.
When a mutation is documented in an affected individual, genetic counseling and mutation analysis should be offered to related family members.
Amniocentesis, a procedure that relies on aspirating cellular material (largely shed foetal epithelial cells) from the amniotic sac, may be less reliable in detecting and quantifying mtDNA mutations and tends to be offered to those women presenting later in pregnancy or where a nDNA mutation is responsible for the mitochondrial disease.
Our results provide further justification that genetic testing for BRCA1 and BRCA2 mutations should be offered to all Jewish women, regardless of personal or family history of cancer.
A first-stage analysis, covering the recurrent mutations, can be offered to a substantial number of families, then, if a negative test result is obtained, more stringent risk criteria can be applied for complete analysis of the genes.
Although targeted screening for specific BRCA1 mutations can be offered to all Polish breast or ovarian cancer patients, NGS-based testing is justified in patients with breast or ovarian cancer likely related to BRCA1/2 who test negative for the selected BRCA1/2 pathogenic mutations.
Once an individual is found to carry biallelic MUTYH mutations, presymptomatic testing can be offered to first-degree relatives, especially to siblings, who have a 25% risk of carrying biallelic mutations.
As such, this family does not qualify for the screening of E-cadherin gene (CDH1) germline mutations which should be offered to families with HDGC [ 3] and early onset GC (diffuse histotype) [ 12].
Genetic testing for a BRCA1/2 gene mutation is offered to women when the family history and the cancer risk estimate suggests a genetic predisposition.
