A mutation analysis of the BRCA1 gene in 140 families from southeast France with a history of breast and/or ovarian cancer

Rostagno, Philippe; Gioanni, J; Garino, Eliane; Vallino, Pierre; Namer, M.; Frénay, Marc

doi:10.1007/s10038-003-0038-y

Cited by 8 publications

(6 citation statements)

References 19 publications

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“…Differences also existed in the composition of the two study groups, as the presence of large familial breast/ovarian cancer families with more than one first‐degree affected member who were analyzed for BRCA1 mutations was limited to 10 non‐related cases in the current study (16.1%, 95% CI: 8–27.7%). Similar frequencies have been reported in other southern European countries including France (12%) (9), Italy (9%) (10), and a cumulative study by Frank et al (9.2%) (11).…”

Section: Discussionsupporting

confidence: 87%

Identification of germline BRCA1 and BRCA2 genetic alterations in Greek breast cancer moderate‐risk and low‐risk individuals – correlation with clinicopathological data

et al. 2005

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The current study was designed to evaluate the prevalence of BRCA1 and BRCA2 germline mutations in Greek moderate- and low-risk individuals with respect to clinicopathological phenotype and clinical outcome of breast cancer. Ninety-four consecutive individuals were prospectively recruited from two University Breast Cancer Clinics (Hippokrateion Hospitan and Laikon Hospital) between 1989 and 1999 and were categorized as moderate-risk and low-risk individuals for carrying BRCA1/2 germline mutations. To identify the underlying mutations, protein-truncation test and single-strand conformation polymorphism methods were used, followed by direct sequencing. Three novel BRCA1 missense mutations, one novel BRCA1 intronic deletion, three novel (previously reported) BRCA2 truncating mutations, and one novel BRCA2 missense mutation were identified in the moderate-risk group of individuals studied. The BRCA1/2 missense mutations as well as the single intronic variant identified were designated as unclassified genetic variants. Two BRCA1 unclassified genetic variants (missense mutations) were detected in two of the three (66.7%) male breast cancer patients analyzed, while the third one was identified in a sporadic (low-risk) breast cancer patient. Clinicopathological characteristics of breast carcinomas originating from BRCA1/2 heterozygotes were consistent with those already reported and not different from those observed in BRCA1/2 mutation (-) breast cancer patients. Furthermore, BRCA1/2 mutation carriers presented an excellent 4.5-year overall survival (100%). Our results reveal the unique characteristics of BRCA1/2 mutation status, genotype-phenotype correlations, and prognosis, in moderate- and low-risk individuals of Greek ancestry. Breast cancer due to mutations in BRCA1 and BRCA2 genes appears to be a heterogeneous syndrome in the Greek population.

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Section: Discussionsupporting

confidence: 87%

Identification of germline BRCA1 and BRCA2 genetic alterations in Greek breast cancer moderate‐risk and low‐risk individuals – correlation with clinicopathological data

et al. 2005

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“…It is estimated that around 5-10% of all breast and ovarian cancers are due to an inherited predisposition [20]. Most of the mentioned hereditary cases have been related to mutations within the BRCA1/2 genes.…”

Section: Genetic Polymorphisms Within the Brac1/2 Genesmentioning

confidence: 99%

“…Two BRCA1 missense mutations, T243C and A120G were reported to modify the initiation codon and have severe results on the function and structure of the BRCA1 protein product by altering the interaction of cysteine ligands. They also found that BRCA1 gene alteration was more common in families with breast-ovarian cancer history than breast cancer families alone [20]. In another study conducted in Chile, a sample of 64 high-risk ovarian and breast carcinoma families were screened for exon-intron boundaries of BRCA1/2 genes and germline mutations in the coding region using conformationsensitive gel electrophoresis and direct DNA sequencing techniques.…”

Section: Genetic Polymorphisms Within the Brac1/2 Genesmentioning

confidence: 99%

BRCA Mutations and PARP Inhibitors in Breast and/or Ovarian Cancer Patients

Gari¹,

Rawas²,

Mufti³

et al. 2021

Int j pharm res allied sci

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BRCA (BReast CAncer gene) mutations are considered strong risk factors in females and males cancers, these include breast, male breast (although rare), ovarian, prostate, pancreatic, and melanoma skin cancers. This paper reviews the literature concerning the association between BRCA and the response rate to poly (adenosine diphosphate-ribose) polymerase inhibitors (PARPi) in breast and ovarian cancer patients. Recent evidence shows that PARPi can be utilized as a base for monotherapy strategies and a broad spectrum of molecular cancers. BRCA1/BRCA2 mutations enhance the risk for developing ovarian and breast cancer, amongst others that are caused either by somatic or germline mutations. PARPi begins the repair pathway of the single-stranded DNA breakage, which is considered the most common form of damage, with the help of certain key PARP enzymes. Olaparib was the first approved PARPi drug by the European Medicine Agency (EMA) and the American Food and Drug Administration (FDA) to treat patients with recurrent BRCA-mutated epithelial ovarian cancer after receiving three or more previous chemotherapies. Furthermore, the FDA approved olaparib to manage patients with HER2-negative, BRCA-mutated, and metastatic breast cancers managed previously through chemotherapy. The studies show that using olaparib for maintenance treatment results in a significantly longer progression-free survival and a slightly better overall survival rate among breast and ovarian cancer patients. Certain studies have shown that olaparib maintenance treatment was mostly prosperous and well-endured among advanced BRCA-mutated ovarian cancers.

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“…A considerable number of these VUS were found to interfere with the RNA splicing process. These VUS can produce new splicing transcripts or affect the ratio of naturally occurring alternative splicing transcripts of the BRCA1 gene (110,(115)(116)(117)(118)(119)(120)(121)(122)(123)(124)(125)(126).…”

Section: Summary and Future Perspectivesmentioning

confidence: 99%

BRCA1—No Matter How You Splice It

Harlan-Williams

Kumaraswamy

et al. 2019

Cancer Research

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BRCA1 (breast cancer 1, early onset), a well-known breast cancer susceptibility gene, is a highly alternatively spliced gene. BRCA1 alternative splicing may serve as an alternative regulatory mechanism for the inactivation of the BRCA1 gene in both hereditary and sporadic breast cancers, and other BRCA1-associated cancers. The alternative transcripts of BRCA1 can mimic known functions, possess unique functions compared with the full-length BRCA1 transcript, and in some cases, appear to function in opposition to full-length BRCA1. In this review, we will summarize the functional "naturally occurring" alternative splicing transcripts of BRCA1 and then discuss the latest next-generation sequencing-based detection methods and techniques to detect alternative BRCA1 splicing patterns and their potential use in cancer diagnosis, prognosis, and therapy.

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A mutation analysis of the BRCA1 gene in 140 families from southeast France with a history of breast and/or ovarian cancer

Cited by 8 publications

References 19 publications

Identification of germline BRCA1 and BRCA2 genetic alterations in Greek breast cancer moderate‐risk and low‐risk individuals – correlation with clinicopathological data

Identification of germline BRCA1 and BRCA2 genetic alterations in Greek breast cancer moderate‐risk and low‐risk individuals – correlation with clinicopathological data

BRCA Mutations and PARP Inhibitors in Breast and/or Ovarian Cancer Patients

BRCA1—No Matter How You Splice It

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