Abstract
Identifying founder mutations in BRCA1 and BRCA2 in specific populations constitute a valuable opportunity for genetic screening. Several studies from different populations have reported recurrent and/or founder mutations representing a relevant proportion of BRCA mutation carriers. In Latin America, only few founder mutations have been described. We screened 453 Chilean patients with hereditary breast cancer for mutations in BRCA1 and BRCA2. For recurrent mutations, we genotyped 11 microsatellite markers in BRCA1 and BRCA2 in order to determine a founder effect through haplotype analysis. We found a total of 25 mutations (6 novel) in 71 index patients among which, nine are present exclusively in Chilean patients. Our analysis revealed the presence of nine founder mutations, 4 in BRCA1 and 5 in BRCA2, shared by 2 to 10 unrelated families and spread in different regions of Chile. Our panel contains the highest amount of founder mutations until today and represents the highest percentage (78%) of BRCA1 and BRCA2 mutation carriers. We suggest that the dramatic reduction of Amerindian population due to smallpox and wars with Spanish conquerors, a scarce population increase during 300 years, and the geographic position of Chile constituted a favorable scenario to establish founder genetic markers in our population.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 74233-74243 |
| Number of pages | 11 |
| Journal | Oncotarget |
| Volume | 8 |
| Issue number | 43 |
| DOIs | |
| State | Published - 2017 |
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Keywords
- BRCA1
- BRCA2
- Breast cancer
- Chile
- Founder mutation
ASJC Scopus subject areas
- Oncology
Cite this
BRCA1 and BRCA2 founder mutations account for 78% of germline carriers among hereditary breast cancer families in Chile. / Alvarez, Carolina; Tapia, Teresa; Perez-Moreno, Elisa; Gajardo-Meneses, Patricia; Ruiz, Catalina; Rios, Mabel; Missarelli, Claudio; Silva, Mariela; Cruz, Adolfo; Matamala, Luis; Carvajal-Carmona, Luis; Camus, Mauricio; Carvallo, Pilar.
In: Oncotarget, Vol. 8, No. 43, 2017, p. 74233-74243.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - BRCA1 and BRCA2 founder mutations account for 78% of germline carriers among hereditary breast cancer families in Chile
AU - Alvarez, Carolina
AU - Tapia, Teresa
AU - Perez-Moreno, Elisa
AU - Gajardo-Meneses, Patricia
AU - Ruiz, Catalina
AU - Rios, Mabel
AU - Missarelli, Claudio
AU - Silva, Mariela
AU - Cruz, Adolfo
AU - Matamala, Luis
AU - Carvajal-Carmona, Luis
AU - Camus, Mauricio
AU - Carvallo, Pilar
PY - 2017
Y1 - 2017
N2 - Identifying founder mutations in BRCA1 and BRCA2 in specific populations constitute a valuable opportunity for genetic screening. Several studies from different populations have reported recurrent and/or founder mutations representing a relevant proportion of BRCA mutation carriers. In Latin America, only few founder mutations have been described. We screened 453 Chilean patients with hereditary breast cancer for mutations in BRCA1 and BRCA2. For recurrent mutations, we genotyped 11 microsatellite markers in BRCA1 and BRCA2 in order to determine a founder effect through haplotype analysis. We found a total of 25 mutations (6 novel) in 71 index patients among which, nine are present exclusively in Chilean patients. Our analysis revealed the presence of nine founder mutations, 4 in BRCA1 and 5 in BRCA2, shared by 2 to 10 unrelated families and spread in different regions of Chile. Our panel contains the highest amount of founder mutations until today and represents the highest percentage (78%) of BRCA1 and BRCA2 mutation carriers. We suggest that the dramatic reduction of Amerindian population due to smallpox and wars with Spanish conquerors, a scarce population increase during 300 years, and the geographic position of Chile constituted a favorable scenario to establish founder genetic markers in our population.
AB - Identifying founder mutations in BRCA1 and BRCA2 in specific populations constitute a valuable opportunity for genetic screening. Several studies from different populations have reported recurrent and/or founder mutations representing a relevant proportion of BRCA mutation carriers. In Latin America, only few founder mutations have been described. We screened 453 Chilean patients with hereditary breast cancer for mutations in BRCA1 and BRCA2. For recurrent mutations, we genotyped 11 microsatellite markers in BRCA1 and BRCA2 in order to determine a founder effect through haplotype analysis. We found a total of 25 mutations (6 novel) in 71 index patients among which, nine are present exclusively in Chilean patients. Our analysis revealed the presence of nine founder mutations, 4 in BRCA1 and 5 in BRCA2, shared by 2 to 10 unrelated families and spread in different regions of Chile. Our panel contains the highest amount of founder mutations until today and represents the highest percentage (78%) of BRCA1 and BRCA2 mutation carriers. We suggest that the dramatic reduction of Amerindian population due to smallpox and wars with Spanish conquerors, a scarce population increase during 300 years, and the geographic position of Chile constituted a favorable scenario to establish founder genetic markers in our population.
KW - BRCA1
KW - BRCA2
KW - Breast cancer
KW - Chile
KW - Founder mutation
UR - http://www.scopus.com/inward/record.url?scp=85030098079&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85030098079&partnerID=8YFLogxK
U2 - 10.18632/oncotarget.18815
DO - 10.18632/oncotarget.18815
M3 - Article
AN - SCOPUS:85030098079
VL - 8
SP - 74233
EP - 74243
JO - Oncotarget
JF - Oncotarget
SN - 1949-2553
IS - 43
ER -