Hereditary ovarian cancers: state of the art

Toss, Angela; Molinaro, Eleonora; Sammarini, Margaret; Savio, Maria Chiara Del; Cortesi, Laura; Facchinetti, Fabio; Grandi, Giovanni

doi:10.23736/s0026-4806.19.06091-9

Cited by 15 publications

(10 citation statements)

References 118 publications

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“…Tumors developing in these families are classified as hereditary cancers, and the most frequently involved predisposition genes include BRCA1 and BRCA2. Overall, BRCA1/2-positive families present an increased incidence of breast, ovarian, prostate and pancreatic cancers [1][2][3][4]. Assessment of an individual's risk for hereditary tumors is therefore based on a thorough evaluation of personal and family cancer history.…”

Section: Introductionmentioning

confidence: 99%

BRCA Detection Rate in an Italian Cohort of Luminal Early-Onset and Triple-Negative Breast Cancer Patients without Family History: When Biology Overcomes Genealogy

Toss

Molinaro

Venturelli

et al. 2020

Cancers

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NCCN Guidelines recommend BRCA genetic testing in individuals with a probability >5% of being a carrier. Nonetheless, the cost-effectiveness of testing individuals with no tumor family history is still debated, especially when BRCA testing is offered by the national health service. Our analysis evaluated the rate of BRCA pathogenic or likely-pathogenic variants in 159 triple-negative breast cancer (TNBC) patients diagnosed ≤60 years, and 109 luminal-like breast cancer (BC) patients diagnosed ≤35 without breast and/or ovarian family histories. In TNBC patients, BRCA mutation prevalence was 22.6% (21.4% BRCA1). Mutation prevalence was 64.2% ≤30 years, 31.8% in patients aged 31–40, 16.1% for those aged 41–50 and 7.9% in 51–60 s. A total of 40% of patients with estrogen receptors (ER) 1–9% were BRCA1 carriers. BRCA detection rate in early-onset BCs was 6.4% (4.6% BRCA2). Mutation prevalence was 0% between 0–25 years, 9% between 26–30 years and 6% between 31–35 years. In conclusion, BRCA testing is recommended in TNBC patients diagnosed ≤60 years, regardless of family cancer history or histotype, and by using immunohistochemical staining <10% for both ER and/PR. In luminal-like early-onset BC, a lower BRCA detection rate was observed, suggesting a role for other predisposing genes along with BRCA genetic testing.

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Section: Introductionmentioning

confidence: 99%

BRCA Detection Rate in an Italian Cohort of Luminal Early-Onset and Triple-Negative Breast Cancer Patients without Family History: When Biology Overcomes Genealogy

Toss

Molinaro

Venturelli

et al. 2020

Cancers

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“…About 23% of epithelial ovarian cancer (EOC) have been related to hereditary conditions [1,2]. The genes mainly involved are breast-cancer susceptibility gene 1 (BRCA1) and breast-cancer susceptibility gene 2 (BRCA2).…”

Section: Introductionmentioning

confidence: 99%

Risk reducing surgery with peritoneal staging in BRCA1-2 mutation carriers. A prospective study

Marchetti

Arcieri

Vertechy

et al. 2022

European Journal of Surgical Oncology

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“…Consequently, also a mutation in these proteins determines a HR deficiency (HRD) and can produce the same effect as BRCA1 and BRCA2 pathogenic mutations (Figure 2). All these proteins form the so-called BRCAness phenotype [4].…”

Section: Introductionmentioning

confidence: 99%

“…All these proteins form the so-called BRCAness phenotype [4]. Overall, the diagnosis of a pathogenic mutation either in BRCA proteins or in BRCAness proteins is particularly important to establish a commensurate management of surveillance programs and treatment strategies in hereditary conditions [5,6].…”

Section: Introductionmentioning

confidence: 99%

BRCA in Gastrointestinal Cancers: Current Treatments and Future Perspectives

Molinaro

Andrikou

Casadei-Gardini

et al. 2020

Cancers

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A strong association between pancreatic cancer and BRCA1 and BRCA2 mutations is documented. Based on promising results of breast and ovarian cancers, several clinical trials with poly (ADP-ribose) polymerase inhibitors (PARPi) are ongoing for gastrointestinal (GI) malignancies, especially for pancreatic cancer. Indeed, the POLO trial results provide promising and awaited changes for the pancreatic cancer therapeutic landscape. Contrariwise, for other gastrointestinal tumors, the rationale is currently only alleged. The role of BRCA mutation in gastrointestinal cancers is the subject of this review. In particular, we aim to provide the latest updates about novel therapeutic strategies that, exploiting DNA repair defects, promise to shape the future therapeutic scenario of GI cancers.

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Hereditary ovarian cancers: state of the art

Cited by 15 publications

References 118 publications

BRCA Detection Rate in an Italian Cohort of Luminal Early-Onset and Triple-Negative Breast Cancer Patients without Family History: When Biology Overcomes Genealogy

BRCA Detection Rate in an Italian Cohort of Luminal Early-Onset and Triple-Negative Breast Cancer Patients without Family History: When Biology Overcomes Genealogy

Risk reducing surgery with peritoneal staging in BRCA1-2 mutation carriers. A prospective study

BRCA in Gastrointestinal Cancers: Current Treatments and Future Perspectives

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