Frequency of germline DNA genetic findings in an unselected prospective cohort of triple-negative breast cancer patients participating in a platinum-based neoadjuvant chemotherapy trial

González-Rivera, Milagros; Lobo, Miriam; López-Tarruella, Sara; Jerez, Yolanda; Monte-Millán, Marı́a del; Massarrah, Tatiana; Ramos-Medina, Rocío; Ocaña, Inmaculada; Picornell, Antoni C.; Garzón, Sonia Santillán; Pérez-Carbornero, Lucía; Gómez, Henry L.; Cuadro, Fernando Moreno; Márquez-Rodas, Iván; Fuentes, Hugo; Martín, Miguel

doi:10.1007/s10549-016-3792-1

Cited by 32 publications

(31 citation statements)

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“…In summary, even TNBC cases unselected for a positive family history of cancer and/or early disease onset appear to be enriched for deleterious germline mutations in BRCA1/2 . In other studies, the BRCA1/2 mutation frequencies of unselected TNBC patients vary between 9.4 and 18.2% (table 1) [26,27,29,30,31,35,36,37]. …”

Section: Elevated Prevalence Of Brca1/2 Mutations In Tnbcmentioning

confidence: 96%

Germline Mutations in Triple-Negative Breast Cancer

et al. 2017

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Triple-negative breast cancer (TNBC) is associated with a poor prognosis and defines a subgroup of patients who do not benefit from endocrine or anti-HER2 therapy. Rather than being a biological entity, TNBC represents a heterogeneous disease, and further subtyping is necessary to establish targeted therapies. Germline mutational status may serve as a robust biomarker predicting therapy response, especially with respect to compounds challenging the DNA repair machinery. Patients with TNBC usually show an early onset of the disease, as well as a positive family history of breast and/or ovarian cancer in more than one third of all cases, which suggests that TNBC is closely associated with a hereditary disease cause. In unselected TNBC cases, the prevalence of pathogenic germline BRCA1/2 mutations is approximately twice as high as in breast cancer overall. Early age at diagnosis and positive family history are strong predictors for an increased BRCA1/2 mutation probability, which is up to 40% when both risk factors are considered. Apart from BRCA1/2, the rarely mutated breast cancer predisposition genes PALB2 and FANCM have been associated with TNBC. This review summarizes the role of germline mutational status in TNBC pathogenesis. Clinical trials addressing BRCA1/2 mutation carriers are discussed.

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Section: Elevated Prevalence Of Brca1/2 Mutations In Tnbcmentioning

confidence: 96%

Germline Mutations in Triple-Negative Breast Cancer

et al. 2017

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“…LGRs were also detected (Table 2) [52,53]. The third publication tested for LGRs in 16 hereditary BC patients but did not test for pathogenic point mutations.…”

Section: The Scope Of Brca1 and Brca2 Mutations In Central And South mentioning

confidence: 99%

“…BARD1 participates in important cellular processes such as DNA repair, RNA processing, transcription, cell cycle regulation and apoptosis [65]. Studies on BARD1 were performed in Chile and Peru (Table 5) [53,66]. Gonzalez-Hormazabal et al [66] reported that in Chilean women negative for BRCA1/2 mutations, BARD1 Cys557Ser was associated with increased risk of BC.…”

Section: Other Bc Susceptibility Mutations In Central and South Amerimentioning

confidence: 99%

“…Variants or pathogenic mutations in this gene were studied in Chile [81] and Peru [53]. In Chile, no mutations were detected in the exon or splice-boundaries regions of the RAD51 gene.…”

Section: Other Bc Susceptibility Mutations In Central and South Amerimentioning

confidence: 99%

“…Moreover, the continental ancestry of the admixed populations in South America is not homogenous. For example, the Argentine population is a mixture of European (0.673), Native American (0.277), West African (0.036) and East Asian (0.014) González-Rivera et al [53] components, while the proportions in the Peruvian population are European (0.26), Native American (0.683), West African (0.032) and East Asian (0.025) [104]. Uruguay is unique among South American countries in that it has almost no communities of Native American or African descent [105].…”

Section: The Relationship Of Brca1/2 Mutations and Other Bc Susceptibmentioning

confidence: 99%

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Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations

et al. 2017

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Breast cancer (BC) is the most common malignancy among women worldwide. A major advance in the understanding of the genetic etiology of BC was the discovery of BRCA1 and BRCA2 (BRCA1/2) genes, which are considered high-penetrance BC genes. In non-carriers of BRCA1/2 mutations, disease susceptibility may be explained of a small number of mutations in BRCA1/2 and a much higher proportion of mutations in ethnicity-specific moderate-and/or low-penetrance genes. In Central and South American populations, studied have focused on analyzing the distribution and prevalence of BRCA1/2 mutations and other susceptibility genes that are scarce in Latin America as compared to North America, Europe, Australia, and Israel. Thus, the aim of this review is to present the current state of knowledge regarding pathogenic BRCA variants and other BC susceptibility genes. We conducted a comprehensive review of 47 studies from 12 countries in Central and South America published between 2002 and 2017 reporting the prevalence and/or spectrum of mutations and pathogenic variants in BRCA1/2 and other BC susceptibility genes. The studies on BRCA1/2 mutations screened a total of 5956 individuals, and studies on susceptibility genes analyzed a combined sample size of 11,578 individuals. To date, a total of 190 different BRCA1/2 pathogenic mutations in Central and South American populations have been reported in the literature. Pathogenic mutations or variants that increase BC risk have been reported in the following genes or genomic regions: ATM, BARD1, CHECK2, FGFR2, GSTM1, MAP3K1, MTHFR, PALB2, RAD51, TOX3, TP53, XRCC1, and 2q35.

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