Hereditary pancreatic cancer

Abe, Kodai; Kitago, Minoru; Kitagawa, Yuko; Hirasawa, Akira

doi:10.1007/s10147-021-02015-6

Cited by 23 publications

(19 citation statements)

References 71 publications

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“…As a high-risk group for malignant tumours [ 5 ], PJS patients have a significantly increased risk of gastrointestinal and extragastrointestinal malignancies [ 6 ], as well as high lifetime cumulative cancer risks. The risk of cancer is increased by 9.9 to 18 times for PJS patients compared with the general population [ 7 ].…”

Section: Introductionmentioning

confidence: 99%

RETRACTED ARTICLE: Multidisciplinary management for Peutz–Jeghers syndrome and prevention of vertical transmission to offspring using preimplantation genetic testing

Song

et al. 2022

Orphanet J Rare Dis

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Background Peutz Jeghers syndrome (PJS) is an autosomal dominant genetic disorder caused by STK11 mutation with a predisposition to gastrointestinal polyposis and cancer. PJS patients suffer poor quality of life and are highly concerned about whether deleterious mutations transmit to their offspring. Therefore, this study aimed to propose feasible clinical management and provide effective preimplantation genetic testing for monogenic defect (PGT-M) strategies to protect offspring from inheriting the disease. Methods A hospital-based clinical retrospective analysis reviewing the clinical characteristics and fertility aspects was first conducted on 51 PJS patients at the First Affiliated Hospital of Zhengzhou University between January 2016 and March 2021. Among the 51 patients, the PGT-M strategy was further carried out in 4 couples, which started with a biopsy of the trophectoderm cells of embryos and whole genome amplification using multiple displacement amplification. Thereafter, single nucleotide polymorphism linkage analyses based on karyomapping were performed with copy number variations of the embryos identified simultaneously. Finally, prenatal diagnosis was used to verify the validity of the PGT-M results. Results A comprehensive management flowchart adopted by the multidisciplinary team model was formulated mainly focusing on clinical genetic and gastrointestinal aspects. Under the guidelines of this management, 32 embryos from 4 PJS pedigrees were diagnosed and 2 couples successfully conceived healthy babies free of the STK11 pathogenic mutation. Conclusions Our comprehensive management could help affected families avoid having children with PJS through preimplantation genetic testing and provide meaningful guidance for multidisciplinary clinical practice on PJS.

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Section: Introductionmentioning

confidence: 99%

RETRACTED ARTICLE: Multidisciplinary management for Peutz–Jeghers syndrome and prevention of vertical transmission to offspring using preimplantation genetic testing

Song

et al. 2022

Orphanet J Rare Dis

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“…The identification of novel pancreatic cancer or IPMN susceptibility genes, including PDIA2 , could advance the genomic screening of patients who would benefit from regular imaging studies for IPMN and pancreatic cancers and provide a better understanding of the multistep pathogenic progression of pancreatic cancer. 32 …”

Section: Discussionmentioning

confidence: 99%

Genomic analysis of familial pancreatic cancers and intraductal papillary mucinous neoplasms: A cross‐sectional study

et al. 2022

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Environmental and genetic factors play a critical role in the pathogenesis of pancreatic cancer, which is likely to follow a multistep process that includes intraductal papillary mucinous neoplasm. The pathogenesis of familial pancreatic cancer has been reported; however, epidemiological characteristics and causative genes remain unclear. This study aimed to determine the relationship between the family history of pancreatic cancer and tumor malignancy and identify novel susceptible germline variants of pancreatic cancer. We performed an epidemiologic study at our institute on a cohort of 668 patients with intraductal papillary mucinous neoplasm and 242 with pancreatic cancer but without associated intraductal papillary mucinous neoplasm stratified by family history of pancreatic cancer. Whole‐exome sequencing was conducted for 10 patients from seven families with familial pancreatic cancer and intraductal papillary mucinous neoplasm. We found that patients who had intraductal papillary mucinous neoplasm with positive family history of pancreatic cancer within first‐degree relatives were more likely to develop malignancy in a shorter period than those without family history. Duplicate frameshift variants in TET2 c.3180dupG (p.Pro1061fs) and ASXL1 c.1934dupG (p.Gly646fs) in one family and POLN c.1194dupT (p.Glu399fs) in another were identified as pathogenic truncating germline variants which were previously recognised susceptibility genes. Moreover, PDIA2 c.1403C>T (p.Pro468Leu) and DPYSL4 c.926C>A (p.Pro309Gln) were shared in four and two patients, respectively. In particular, PDIA2 was identified as a novel candidate for one of the deleterious variants of familial pancreatic cancer.

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“…There is also a suggestive case report showing a potential involvement of GPVs of PALB2 and NBS1 ( NBN ) in the susceptibility to pancreatic cancer [ 41 ]. For presumed high-risk individuals with a pronounced history (e.g., at least two affected cases within first-degree relatives) of familial pancreatic cancer, it is suggested to conduct routine follow-ups with endoscopic ultrasound (EUS) and MRI or magnetic resonance cholangiopancreatography (MRCP) as surveillance of pancreatic cancer, in accordance with the International Cancer of Pancreas Screening (CAPS) established in 2013 by Johns Hopkins University [ 42 ] and with the latest version of the NCCN Guidelines ® [ 43 ].…”

Section: Molecular Components and Cascade Overview Of Hrmentioning

confidence: 99%

Homologous Recombination Deficiencies and Hereditary Tumors

Yamamoto

Hirasawa

2021

IJMS

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Homologous recombination (HR) is a vital process for repairing DNA double-strand breaks. Germline variants in the HR pathway, comprising at least 10 genes, such as BRCA1, BRCA2, ATM, BARD1, BRIP1, CHEK2, NBS1(NBN), PALB2, RAD51C, and RAD51D, lead to inherited susceptibility to specific types of cancers, including those of the breast, ovaries, prostate, and pancreas. The penetrance of germline pathogenic variants of each gene varies, whereas all their associated protein products are indispensable for maintaining a high-fidelity DNA repair system by HR. The present review summarizes the basic molecular mechanisms and components that collectively play a role in maintaining genomic integrity against DNA double-strand damage and their clinical implications on each type of hereditary tumor.

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Hereditary pancreatic cancer

Cited by 23 publications

References 71 publications

RETRACTED ARTICLE: Multidisciplinary management for Peutz–Jeghers syndrome and prevention of vertical transmission to offspring using preimplantation genetic testing

RETRACTED ARTICLE: Multidisciplinary management for Peutz–Jeghers syndrome and prevention of vertical transmission to offspring using preimplantation genetic testing

Genomic analysis of familial pancreatic cancers and intraductal papillary mucinous neoplasms: A cross‐sectional study

Homologous Recombination Deficiencies and Hereditary Tumors

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