Whole genome joint analysis reveals ATM:C.1564_1565del variant segregating with Ataxia-Telangiectasia and breast cancer.
Cancer Genet
; 286-287: 43-47, 2024 Aug.
Article
in En
| MEDLINE
| ID: mdl-39067332
ABSTRACT
ATM gene is implicated in the development of breast cancer in the heterozygous state, and Ataxia-telangiectasia (A-T) in a homozygous or compound heterozygous state. Ataxia-telangiectasia (A-T) is a rare cerebellar ataxia syndrome presenting with progressive neurologic impairment, telangiectasia, and an increased risk of leukemia and lymphoma. Although the role of ATM, separately, in association with A-T and breast cancer is well documented, there is a limited number of studies investigating ATM variants when segregating with both phenotypes in the same family. Here, using joint analysis and whole genome sequencing, we investigated ATM c.1564_1565del in a family with one homozygous member presenting with A-T (OMIM # 208900) and three heterozygous members, of whom one had breast cancer (OMIM #114480). To our knowledge, this is the first study of ATM c.1564_1565del segregation with both A-T and breast cancer phenotypes within the same kindred. This study highlights the need for a comprehensive genomic approach in the appropriate cancer risk management of heterozygote carriers of ATM in families with A-T.
Key words
Full text:
1
Database:
MEDLINE
Main subject:
Pedigree
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Breast Neoplasms
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Ataxia Telangiectasia
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Ataxia Telangiectasia Mutated Proteins
Limits:
Adult
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Female
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Humans
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Male
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Middle aged
Language:
En
Year:
2024
Type:
Article