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The integrative recommendations for BRCA testing presented here aim to (1) identify indi-viduals who may benefit from genetic counselling and risk-reducing strategies; (2) update germline and tumour-testing indications for PARPi-approved therapies; (3) provide testing
The integrative recommendations for BRCA testing presented here aim to (1) identify individuals who may benefit from genetic counselling and risk-reducing strategies; (2) update germline and tumour-testing indications for PARPi-approved therapies; (3) provide testing recommendations for personalised management of early and metastatic breast ...
4 paź 2021 · The value of early fertility preservation for carriers of BRCA1 or BRCA2 germline mutations rests with two realities of assisted reproductive technologies (ART): 1. A healthy pregnancy can be achieved using cryopreserved gametes or embryos in the absence of functioning fallopian tubes or ovaries.
3 kwi 2020 · RECOMMENDATIONS Patients with newly diagnosed BC and BRCA1/2 mutations may be considered for breast-conserving therapy (BCT), with local control of the index cancer similar to that of noncarriers.
20 sie 2019 · Genetic risk assessment and BRCA1/2 mutation testing is a multistep process that begins with identifying patients with family or personal histories of breast, ovarian, tubal, or peritoneal cancer; family members with known harmful BRCA1/2 mutations; or ancestry associated with harmful BRCA1/2 mutations.
BRCA1 and BRCA2 are high-penetrance breast cancer predisposition genes identified by genome-wide linkage analysis and positional cloning. Mutations in BRCA1/2 explain ∼20% of the familial clustering of breast cancer.
BRCA1/2 mutation carriers (male and female) planning to conceive should be made aware of the options of prenatal diagnosis (via chorio-villous or amniotic fluid sampling in week 11–20 of gestation) and PGD: V, C
