A breast cancer patient from Italy with germline mutations in both the BRCA1 and BRCA2 genes

Musolino, Antonino; Naldi, Nadia; Michiara, Maria; Bella, Maria Angela; Zanelli, Paola; Bortesi, Beatrice; Capelletti, Marzia; Savi, M; Neri, Tauro Maria; Ardizzoni, Andrea

doi:10.1007/s10549-004-7704-4

Cited by 23 publications

(20 citation statements)

References 14 publications

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“…Germ-line mutations in the BRCA2 gene are observed in ~35% of families with early-onset breast cancer in females; these mutations lead to an increased risk of developing ovarian cancer in females and breast cancer in males (6). Breast cancer caused by a mutation in the BRCA1 gene has a higher incidence, higher mitotic rate and more lymphatic penetrance than sporadic breast cancer (7). These types of cancer are more likely to lack expression of ER, PR and HER-2nue receptors, and to have a somatic mutation in the P53 gene (7)(8)(9)(10).…”

Section: Discussionmentioning

confidence: 99%

“…Breast cancer caused by a mutation in the BRCA1 gene has a higher incidence, higher mitotic rate and more lymphatic penetrance than sporadic breast cancer (7). These types of cancer are more likely to lack expression of ER, PR and HER-2nue receptors, and to have a somatic mutation in the P53 gene (7)(8)(9)(10). In addition to having an increased risk of developing breast cancer, BRCA1 or BRCA2 gene mutation carriers have an increased risk for other types of cancer, including colon, prostate, pancreatic, melanoma and gastric cancer (11,12).…”

Section: Discussionmentioning

confidence: 99%

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Identification of a novel breast cancer‑causing mutation in the BRCA1 gene by targeted next generation sequencing: A case report

et al. 2018

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Abstract.Hereditary breast cancer is an autosomal dominant syndrome caused by germ-line mutations in the human breast cancer genes, BRCA1 and BRCA2. Mutations in either BRCA1 or BRCA2 are the major causes of familial and early-onset breast cancer. The present study investigated a 33-year-old Chinese female patient with breast cancer using targeted next generation sequencing. A novel heterozygous deletion-insertion was also identified in the BRCA1 gene, c.311_312delinsAGGTTTGCA, which causes the formation of a truncated BRCA1 protein of 109 amino acids instead of a wild-type BRCA1 protein of 1,863 amino acids. These results could potentially expand the mutational spectra of BRCA1-associated breast cancer. In addition, these findings may be valuable for the mutation-based screening and genetic diagnosis of breast cancer.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Identification of a novel breast cancer‑causing mutation in the BRCA1 gene by targeted next generation sequencing: A case report

et al. 2018

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“…The BRCA1 mutation was inherited since 50% of the members studied were carriers whereas the BRCA2 NT_8756delA mutation seemed to be a "de novo" mutation. Musolino et al [7] studied a breast cancer patient from Italy with BRCA1 Y1429X and BRCA2 Q2580X mutations reporting the first case in Italy of a nonAshkenazi double heterozygosity for BRCA1 and BRCA2 genes. At last, Zurardelli et al [5] discussed four new cases of double heterozygosity showing a non correlation of age of onset, specific phenotype and a presence of pathological mutations in both genes at the same time.…”

Section: Discussionmentioning

confidence: 99%

“…However, the probability of having both genes mutated in the same individual is very low and only few cases showing double heterozigosity (DH) in Italian population have been described [5][6][7].…”

Section: Introductionmentioning

confidence: 99%

Maternal and paternal lineage double heterozygosity alteration in familial breast cancer: a first case report

Pilato¹,

Summa²,

Danza³

et al. 2010

Breast Cancer Res Treat

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Hereditary breast cancer syndrome was firstly associated with BRCA1 and BRCA2 genes whose mutations confer high risk to develop breast and/or ovarian cancer. Double heterozygosity is a rare condition in which both BRCA1 and BRCA2 mutations are present in a family at the same time.In the current study, a family with double heterozygosity has been reported. Furthermore, for the first time a molecular analysis in both proband lineages, maternal and paternal, has been reported to understand the provenience of both germinal mutations.The case regards a woman that developed breast and ovarian cancer with liver metastasis which presented two mutations, each in the two genes, transmitted from her mother and her father respectively. In this family all available members have been investigated. The concomitantly presence of these peculiar mutations was never reported before suggesting a link with Caucasian population from Southern Italy.

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“…To our knowledge, only approximately 40 individuals with DH in BRCA genes have been reported to date [5,6,[9][10][11][12][13][14][15][16][17][18][19][20][21]. Their identification has important implications for genetic counseling, clinical follow-up and can improve our understanding of genotype/phenotype correlation and mutation interaction.…”

mentioning

confidence: 99%

Four new cases of double heterozygosity for BRCA1 and BRCA2 gene mutations: clinical, pathological, and family characteristics

Zuradelli

Peissel

Manoukian

et al. 2010

Breast Cancer Res Treat

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Double heterozygosity (DH) for BRCA1 and BRCA2 mutations is a very rare finding, particularly in non-Ashkenazi individuals, and only a few cases have been reported to date. In addition, little is known on the pathological features of the tumors that occur in DH cases and on their family history of cancer. Four carriers of pathogenic mutations in both BRCA1 and BRCA2 were identified among women who underwent genetic counseling for hereditary susceptibility to breast and ovarian carcinoma at three different Italian institutions. Clinical, pathological, and family history data were collected from medical records and during genetic counseling sessions. All identified DH cases developed breast carcinoma and three of them were also diagnosed with ovarian carcinoma. Mean ages of breast and ovarian cancer diagnosis were 42.7 and 48.6 years, respectively. The majority of breast cancers showed a BRCA1-related phenotype, being negative for hormone receptors and HER2. Two cases reported different gastrointestinal tumors among relatives. Although the individuals described in this study show more severe clinical features in comparison to previously reported BRCA1 and BRCA2 DH cases, our observations support the hypothesis of a non specific phenotype of DH cases in terms of age of disease onset. In addition, our observations indicate that in DH patients breast carcinogenesis appears to be driven mainly by the mutations in BRCA1. The possible association of DH for BRCA gene mutations with gastrointestinal tumors is in keeping with previous reports, but needs to be confirmed by further analyses.

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A breast cancer patient from Italy with germline mutations in both the BRCA1 and BRCA2 genes

Cited by 23 publications

References 14 publications

Identification of a novel breast cancer‑causing mutation in the BRCA1 gene by targeted next generation sequencing: A case report

Identification of a novel breast cancer‑causing mutation in the BRCA1 gene by targeted next generation sequencing: A case report

Maternal and paternal lineage double heterozygosity alteration in familial breast cancer: a first case report

Four new cases of double heterozygosity for BRCA1 and BRCA2 gene mutations: clinical, pathological, and family characteristics

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