Multiple concurrent unusual neoplasms presenting in a patient with familial adenomatous polyposis: A case report and review of the literature

Stoffel, Michelle; Rysavy, Mary B.; Rose, Stephen L.; Laffin, Jennifer; Rehrauer, William M.; Hafez, G. Reza; Flynn, Christopher

doi:10.1016/j.ehpc.2018.07.004

Cited by 2 publications

(2 citation statements)

References 21 publications

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“…Interestingly, MAP is associated with the significant increase in the incidence of ovarian, bladder, and skin cancers and a trend of increased risk of breast cancer ( 14 ). There are also reports of APC carriers developing ovarian or endometrial tumors although rarely ( 15 ). Our patient had a synchronous BRCA1 germline mutation which explains the development of HGSC ovarian cancer.…”

Section: Discussionmentioning

confidence: 99%

Germline and somatic variants in ovarian carcinoma: A next-generation sequencing (NGS) analysis

et al. 2022

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BackgroundGermline BRCA1/2 mutations are identified in 13-15% of ovarian cancers, while an additional 5-7% of ovarian cancers harbor somatic BRCA1/2 mutations. Beyond these mutations, germline or somatic aberrations in genes of the homologous recombination (HR) pathway such as RAD51B/C/D, PALB2, ATM, BRIP1 may confer an HR deficiency in up to 50% of ovarian tumors. Next-generation sequencing (NGS) is a high-throughput massive parallel sequencing method that enables the simultaneous detection of several mutations in entire genomes.MethodsWe performed NGS analysis in 86 patients with ovarian cancer treated in the Oncology Department of Alexandra University Hospital in order to identify the molecular landscape of germline and somatic mutations in ovarian cancer.ResultsThe genes with the highest number of pathogenic somatic mutations in high grade serous carcinoma (HGSC) patients were TP53 [68%; 34/50] and BRCA1 [22%; 11/50] followed by somatic mutations in RB1 [2%; 1/50], NF1 [2%; 1/50], BRCA2 [2%; 1/50], AKT1 [2%; 1/50], RAD50 [2%; 1/50], PIK3CA [2%; 1/50] genes. Of note, the most common TP53 genetic polymorphism was c.524G>A p.Arg175His in exon 5. Variants of unknown significance (VUS) detected in HGSC included ROS1 [26%; 13/50], RAD50 [6%; 3/50], BRCA2 [6%; 3/50], NOTCH1 [6%; 3/50], TP53 [6%; 3/50], AR [6%; 3/50]. As for germline mutations, BRCA1 [8/30; 27%] and BRCA2 [4/30; 13%] were the most common genes bearing pathogenic alterations in HGSC, while VUS germline mutations commonly affected HRR-related genes, including ATM (c.7816A>G), BRIP (c.2327 C>A), CHEK2 (c.320-5T>A).ConclusionOverall, genetic testing should be offered in most patients with ovarian cancer to identify mutations in HRR genes and determine the population that would be susceptible to poly ADP ribose polymerase (PARP) inhibitors.

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Section: Discussionmentioning

confidence: 99%

Germline and somatic variants in ovarian carcinoma: A next-generation sequencing (NGS) analysis

et al. 2022

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“…There are reports of ovarian and endometrial malignancy with FAP. 1 MUTHY associated polyposis (MAP) may be more associated with the significant increase in the incidence of ovarian, bladder, and skin cancers and a trend of increased risk of breast cancer. 2 …”

Section: Introductionmentioning

confidence: 99%

Familial Adenomatous Polyposis with Synchronous Colorectal, Bilateral Ovarian, and Uterine Malignancies

Prasad¹,

Umman²,

Mathew³

et al. 2021

Oman Med J

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Multiple concurrent unusual neoplasms presenting in a patient with familial adenomatous polyposis: A case report and review of the literature

Cited by 2 publications

References 21 publications

Germline and somatic variants in ovarian carcinoma: A next-generation sequencing (NGS) analysis

Germline and somatic variants in ovarian carcinoma: A next-generation sequencing (NGS) analysis

Familial Adenomatous Polyposis with Synchronous Colorectal, Bilateral Ovarian, and Uterine Malignancies

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