Case report: Antenatal diagnostic of a polymalformative syndrome due to biallelic BRCA2 mutations.

Aude AnquetilSuonavy Khung SavatovskyLaurent GavardAnne BazinFabien GuimiotChristele DubourgLaurent Mandelbrot Olivier Picone

Published in: Clinical case reports (2021)

Testing the partner of a BRCA2 carrier must always be discussed. If both members of the couple are BRCA2 carriers, they should be informed about the high risks of polymalformative syndromes.

Keyphrases

case report
breast cancer risk
pregnant women
human health
intellectual disability
preterm birth
risk assessment
hepatitis c virus