Three cases of kindred with familial breast cancer in which carrier detection by BRCA gene testing was performed on family members

We performed presymptomatic carrier detection by BRCA gene testing of the family members of three familial breast cancer kindred diagnosed with pathogenetic mutation in BRCA genes. All members were over 20 years of age. We explained familial breast cancer and BRCA gene testing, and obtained autonomi...

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Bibliographic Details
Published in:Breast cancer (Tokyo, Japan) Japan), 2012-07, Vol.19 (3), p.270-274
Main Authors: Nomizu, Tadashi, Sakuma, Takeshi, Yamada, Mutsuo, Matsuzaki, Masami, Katagata, Naoto, Watanabe, Fumiaki, Nihei, Mitsuhiro, Ishioka, Chikashi, Takenoshita, Seiichi, Abe, Rikiya
Format: Article
Language:English
Subjects:
Aged
BRCA2 Protein - genetics
Breast cancer
Breast Neoplasms - genetics
Cancer
Cancer Research
Case Report
Diagnosis
Female
Genes
Genetic aspects
Genetic Carrier Screening
Genetic screening
Health aspects
Heterozygote
Humans
Male
Medical tests
Medicine
Medicine & Public Health
Middle Aged
Oncology
Pedigree
Surgery
Surgical Oncology
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Summary:We performed presymptomatic carrier detection by BRCA gene testing of the family members of three familial breast cancer kindred diagnosed with pathogenetic mutation in BRCA genes. All members were over 20 years of age. We explained familial breast cancer and BRCA gene testing, and obtained autonomic consent before gene testing. Genetic testing revealed twins in a family were dizygotic. In another family bilateral breast cancer occurred in a carrier after five years of genetic testing. Carriers are at high risk of breast cancer and have to receive breast cancer screening and familial tumor counseling. Non-carriers are at the same risk of breast cancer as the general population.
ISSN:1340-6868
1880-4233
DOI:10.1007/s12282-009-0157-1