Genetic Counseling, Screening and Risk-Reducing Surgery in Patients with Primary Breast Cancer and Germline BRCA Mutations: Unmet Needs in Low- and Middle-Income Countries.
Hereditary breast cancer
VUS mutation
genetic counseling
germline BRCA mutation
risk-reducing salpingo-oophorectomy
screening; contralateral prophylactic mastectomy
Journal
European journal of breast health
ISSN: 2587-0831
Titre abrégé: Eur J Breast Health
Pays: Turkey
ID NLM: 101709357
Informations de publication
Date de publication:
Jan 2022
Jan 2022
Historique:
received:
15
05
2021
accepted:
13
10
2021
entrez:
21
1
2022
pubmed:
22
1
2022
medline:
22
1
2022
Statut:
epublish
Résumé
Worldwide genetic counseling practices are variable and often not reported in low- and middle-income countries (LMICs). We present the follow-up genetic counseling, breast screening, risk-reducing salpingo-oophorectomy (RRSO) and contralateral prophylactic mastectomy (CPM) in a cohort of study patients with either Chart review and phone calls for the collection of information. Out of a cohort of 250 patients, 14 had deleterious mutations and 31 had a VUS, of whom 19 had primary early breast cancer. We collected information about genetic counseling, screening, CPM and RRSO. Fourteen patients with deleterious mutations (7 Within three years from knowing they have a mutation, 50% of patients with germline
Identifiants
pubmed: 35059587
doi: 10.4274/ejbh.galenos.2021.2021-5-1
pii: 49531
pmc: PMC8734520
doi:
Types de publication
Journal Article
Langues
eng
Pagination
16-20Informations de copyright
©Copyright 2022 by Turkish Federation of Breast Diseases Associations.
Déclaration de conflit d'intérêts
Conflict of Interest: No conflict of interest declared by the authors.
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