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Nationwide, Couple-Based Genetic Carrier Screening
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Journal Article
Nationwide, Couple-Based Genetic Carrier Screening
2025
Overview
To the Editor:
Kirk et al. (Nov. 21 issue)
1
describe a study of couple-based genetic carrier screening. Cancer-associated genes, such as
BRCA1
,
BRCA2
, and those linked to the Lynch syndrome (
MLH1
,
MSH2
,
MSH6
, and
PMS2
), were excluded from the 1281 genes studied.
2
Biallelic loss-of-function variants in these genes lead to very high rates of cancer in childhood. Biallelic loss of the Lynch syndrome genes results in constitutional mismatch-repair deficiency,
3
whereas biallelic loss of
BRCA1
or
BRCA2
results in Fanconi’s anemia.
4
These conditions are associated with aggressive cancers with high mortality, and therefore close surveillance is recommended in childhood.
3,4
The carrier . . .
Publisher
Massachusetts Medical Society
Subject
