Thyroid and Breast Cancer in 2 Sisters With Monoallelic Mutations in the Ataxia Telangiectasia Mutated (ATM) Gene.
Details
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License: CC BY-NC-ND 4.0
UNIL restricted access
State: Public
Version: author
License: CC BY-NC-ND 4.0
Serval ID
serval:BIB_01841647FB1B
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Thyroid and Breast Cancer in 2 Sisters With Monoallelic Mutations in the Ataxia Telangiectasia Mutated (ATM) Gene.
Journal
Journal of the Endocrine Society
ISSN
2472-1972 (Electronic)
ISSN-L
2472-1972
Publication state
Published
Issued date
01/04/2022
Peer-reviewed
Oui
Volume
6
Number
4
Pages
bvac026
Language
english
Notes
Publication types: Case Reports
Publication Status: epublish
Publication Status: epublish
Abstract
The presence of a bidirectional risk for metachronous carcinomas among women with thyroid and breast cancer is well established. However, the underlying risk factors remain poorly understood. Two sisters developed papillary thyroid cancer (PTC) at age 32 and 34 years, followed by ductal carcinoma of the breast at 44 and 42 years. The 2 children of the younger sister developed ataxia-telangiectasia; the son also developed lymphoblastic lymphoma and his sister died secondary to acute lymphoblastic leukemia (ALL). They were found to be compound heterozygous for ataxia telangiectasia mutated (ATM) gene mutations (c.3848T>C, p.L1283P; and c.802C>T, p.Q268X). Exome sequencing of the 2 sisters (mother and aunt of the children with ataxia-telangiectasia) led to the detection of the pathogenic monoallelic ATM mutation in both of them (c.3848T>C; minor allele frequency [MAF] < 0.01) but detected no other variants known to confer a risk for PTC or breast cancer. The findings suggest that monoallelic ATM mutations, presumably in conjunction with additional genetic and/or nongenetic factors, can confer a risk for developing PTC and breast cancer.
Keywords
ATM protein, ataxia telangiectasia, breast neoplasms, genetic predisposition to disease, neoplastic syndromes, thyroid cancer
Pubmed
Web of science
Open Access
Yes
Funding(s)
Other
Create date
21/03/2022 10:01
Last modification date
10/08/2023 7:00