2015
DOI: 10.1371/journal.pone.0143262
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Ancestry of the Brazilian TP53 c.1010G>A (p.Arg337His, R337H) Founder Mutation: Clues from Haplotyping of Short Tandem Repeats on Chromosome 17p

Abstract: Rare germline mutations in TP53 (17p13.1) cause a highly penetrant predisposition to a specific spectrum of early cancers, defining the Li-Fraumeni Syndrome (LFS). A germline mutation at codon 337 (p.Arg337His, c1010G>A) is found in about 0.3% of the population of Southern Brazil. This mutation is associated with partially penetrant LFS traits and is found in the germline of patients with early cancers of the LFS spectrum unselected for familial history. To characterize the extended haplotypes carrying the mut… Show more

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Cited by 13 publications
(11 citation statements)
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“…The mutation TP53, c.1010G > A, has been previously reported as founder mutation in Southern Brazilian [ 30 ]. Interestingly, it was detected in one of the Chinese families who had breast and lung cancer and multiple family cancers.…”
Section: Discussionmentioning
confidence: 99%
“…The mutation TP53, c.1010G > A, has been previously reported as founder mutation in Southern Brazilian [ 30 ]. Interestingly, it was detected in one of the Chinese families who had breast and lung cancer and multiple family cancers.…”
Section: Discussionmentioning
confidence: 99%
“…The compound variant haplotype was enriched in patients with cancer, conferring risk for sarcoma and subsequent cancers. 16,17 The IARC germline TP53 data set contains data on 282 Brazilian carriers of the p.R337H variant (8.4%). Of these carriers, 193 (68.4%) met LFS testing criteria, including 141 participants (50.0%) who met these criteria on the sole basis of diagnosis of adrenocortical carcinoma in the family.…”
Section: Meaningmentioning
confidence: 99%
“…TP53 R337H is a founder mutation [10], and its increasing frequency in the population is facilitated by its low penetrance, with a relatively low cancer risk during the reproductive years. However, it is not clear how this mutation accumulated only in Southern Brazil from a Caucasian/Portuguese–Iberian common ancestor [11]. While R337H occurs in 1:370 births in Paraná state [3], other TP53 germline mutations are thought to occur at a frequency of between 1:5000 and 1:20,000 births [7,12] in other countries.…”
Section: Introductionmentioning
confidence: 99%