Clin Transl Oncol (2010) 12:849-851
(I.2, breast cancer younger than 40 years) and in two daughters (III.2
and III.3). This ﬁ nding may have important consequences for the fam-
ily members since they might be at risk of colorectal cancer or other
extra-colonic tumours. Individuals III.2 and III.3 should undergo a
colonoscopy every two years from 10 years before the proband’s age
at cancer diagnosis . In the same way, and regarding the family his-
tory of breast cancer, mammography could be recommended.
There is an entry in the International Society for Gastrointestinal
Hereditary Tumours database (www.insight-group.org) correspond-
ing to a different missense mutation affecting the same codon:
c.2080T>C, pF694L. This mutation, reported by Murata and co-work-
ers , was detected in a sporadic breast cancer patient whose tumour
showed instability in one of the microsatellite markers analysed and a
strong protein MSH2 expression. This ﬁ nding, together with the mu-
tation reported herein, also detected in a breast cancer patient (I.2),
might indicate that alterations in this codon of the MSH2 gene might
confer an increased susceptibility to breast cancer in Lynch families.
Evaluation of the c.2081 T>C mutation in a population
Exon 13 of the hMSH2 gene was PCR-ampliﬁ ed and se-
quenced in 116 randomly selected controls. All the control
chromosomes carried the wild-type sequence at this codon
and therefore the maximum frequency of the mutant allele
would be 0.4%. We did not detect any other changes in the
exon 13 sequence in the control individuals.
Acknowledgements We are grateful to all the family members for
their full cooperation during this study. We thank Dr. M. Herráiz for
critical reading of this case report.
Conﬂ ict of interest The authors declare that they have no conﬂ ict of
interest relating to the publication of this manuscript.
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