Editorial: Hereditary Breast and Ovarian Cancer: Current Concepts of Prevention and Treatment

Grabenstetter, Anne; Lázaro, Conxi; Turashvili, Gulisa

doi:10.3389/fonc.2020.618369

Cited by 3 publications

(2 citation statements)

References 9 publications

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“…Further pathogenic gene mutations of MLH1 and CDKN2A have been recently described in pancreatic and upper gastrointestinal tract tumors but have not been evaluated in the setting of familial FPC-CRC predisposition [ 42 ]. Whereas BRCA2 mutations, have been reported to play a role in neoplasia in hereditary breast and ovarian cancer (HBOC) and may be involved in up to half of hereditary breast cancer [ 43 ]. Instead of BRCA2 itself, this study detected mutations in FPC-CRC kindreds in PALB2 , a co-localizer and partner gene to BRCA2 , which is also proposed to be involved in FPC [ 44 ].…”

Section: Discussionmentioning

confidence: 99%

Characteristics of familial pancreatic cancer families with additional colorectal carcinoma

et al. 2023

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Familial pancreatic cancer (FPC) is a rare hereditary tumor entity with broad phenotypic heterogeneity, including colorectal carcinoma (CRC) in some families. The underlying factors for this co-occurrence are still not well evaluated. FPC families in the National Case Collection of Familial Pancreatic Cancer with an additional occurrence of CRC were analyzed regarding the phenotype, genotype and recommendation for a clinical screening program. The total cohort of 272 FPC families included 30 (11%) families with at least one CRC case. The proportion of affected family members with PDAC was 16.1% (73/451) compared to 9.3% of family members with CRC (42/451, p < 0.01). Females were affected with PDAC in 49% (36/73) and CRC in 38% (16/42). The median age of PDAC was 63 compared to 66 years in CRC, whereas 8 (26.6%) of families had an early onset of PDAC and 2 (6.7%) of CRC. Seventeen families had 2 or more affected generations with PDAC and 6 families with CRC. Eleven (9.6%) of affected patients had both PDAC and CRC. Potentially causative germline mutations (2 ATM, 1 CDKN2a, 1 MLH1, 1 PALB2) were detected in 5 of 18 (27.7%) analyzed cases. These findings provide a step forward to include the phenotypic and genotypic characteristics of FPC-CRC families for the genetic counseling and management of these families. Nevertheless, results need to be verified in a larger patient cohort beforehand.

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Section: Discussionmentioning

confidence: 99%

Characteristics of familial pancreatic cancer families with additional colorectal carcinoma

et al. 2023

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“…However, the inherited mutations are also responsible for early onset of these cancers [6]. Hereditary breast and ovarian cancer (HBOC) syndrome is a major condition responsible for approximately 90% of inherited breast and ovarian cancer [7]. HBOC is an autosomaldominant inherited condition associated with higher risk of early-onset of breast cancer and ovarian cancer in multiple family members [8].…”

Section: Introductionmentioning

confidence: 99%

Identification of novel exonic variants responsible for hereditary breast and ovarian cancer in West Indian population

Waghela¹,

Pandit²,

Puvar³

et al. 2021

Preprint

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Background Breast and ovarian cancers are the most common cancer types in females in India which pertain to higher mortality and morbidity due to late diagnosis and poor prognosis. Early diagnosis for better prognosis improve the patient’s treatment and survival. The next-generation sequencing (NGS)-based screening has accelerated molecular diagnosis of various cancers. Methods We performed whole exome sequencing (WES) of 30 patients who had a first or second degree relative with breast or ovarian cancer. Further, all these patients are tested negative for BRCA1/2 or other high and moderate risk genes reported for HBOC. WES data from 30 patients were analyzed and variants were called using bcftools. Functional annotation of variants and variant prioritization was performed by Exomiser. The clinical significance of variants was determined by Varsome tool. The functional analysis of genes was determined by STRING analysis and disease association was determined by open target tool. Results We examined the variants based on the prevalence of variants among 30 patients i.e. frequency and disease association determined by the phenotype score of exomiser. From both the approaches, we found novel variants and novel gene candidates associated with HBOC conditions. The variants in HYDIN, AVIL, IWS1, PLA2G6, PRDM4, ST3GAL2, and ZNF717 were predicted highly oncogenic. Moreover, we also found 59 genes having higher phenotype score (phenotype score >0.75) and which are associated with various biological processes such as DNA integrity maintenance, transcriptional regulation, cell cycle and apoptosis. Conclusion The gene variants associated with HBOC condition in West Indian cohort have been revisited. Our findings provide novel as well as highly prevalent variants in the population which could be further studied in detail for their use in early diagnosis and better prognosis of HBOC patients.

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Identification of novel exonic variants contributing to hereditary breast and ovarian cancer in west Indian population

Waghela

Pandit

Puvar

et al. 2023

Gene

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Editorial: Hereditary Breast and Ovarian Cancer: Current Concepts of Prevention and Treatment

Cited by 3 publications

References 9 publications

Characteristics of familial pancreatic cancer families with additional colorectal carcinoma

Characteristics of familial pancreatic cancer families with additional colorectal carcinoma

Identification of novel exonic variants responsible for hereditary breast and ovarian cancer in West Indian population

Identification of novel exonic variants contributing to hereditary breast and ovarian cancer in west Indian population

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