Genetic Predisposition to Gastric Cancer
Gastric cancer ranks as the 3rd leading cause of cancer mortality worldwide and confers a 5-year survival of 20%. While most gastric cancers are sporadic, ~1-3% can be attributed to inherited cancer predisposition syndromes. Germline E-cadherin/CDH1 mutations have been identified in families with an autosomal dominant inherited predisposition to diffuse gastric cancer. The cumulative risk of gastric cancer for CDH1 mutation carriers by age 80 years is reportedly 70% for men and 56% for women. Female mutation carriers also have an estimated 42% risk for developing lobular breast cancer by age 80 years. (Source: Seminars in Oncology)
Source: Seminars in Oncology - September 21, 2016 Category: Cancer & Oncology Authors: Iva Petrovchich, James M. Ford Source Type: research
Genetic Predisposition to Kidney Cancer
Kidney cancer is not a single disease but is made up of a number of different types of cancer classified by histology that are disparate in presentation, clinical course, and genetic basis. Studies of families with inherited renal cell carcinoma (RCC) have provided the basis for our understanding of the causative genes and altered metabolic pathways in renal cancer with different histologies. Von Hippel-Lindau disease was the first renal cancer disorder with a defined genetic basis. Over the next two decades, the genes responsible for a number of other inherited renal cancer syndromes including hereditary papillary renal c...
Source: Seminars in Oncology - September 21, 2016 Category: Cancer & Oncology Authors: Laura S. Schmidt, W. Marston Linehan Source Type: research
Familial Pancreatic Cancer
Familial pancreatic cancer (FPC) includes those kindreds that contain at least two first degree relatives with pancreatic ductal adenocarcinoma. At least twelve known hereditary syndromes or genes are associated with increased risk of developing pancreatic cancer, the foremost being BRCA2 and CDKN2A. Research into the identification of mutations in known cancer predisposition genes and through next generation sequencing has revealed extensive heterogeneity. The development of genetic panel testing has enabled genetic risk assessment and predisposition testing to be routinely offered. (Source: Seminars in Oncology)
Source: Seminars in Oncology - September 21, 2016 Category: Cancer & Oncology Authors: Gloria M. Petersen Source Type: research
Introduction to Advances in Inherited Cancers
For decades, clinicians and researchers have recognized families with an apparent “excess of cancers” and struggled with how to best treat their cancers and prevent additional tumors in at-risk relatives. Painstaking work using candidate gene studies, linkage analysis and positional cloning involving hundreds of families has led to the identification of literally dozens of ge nes implicated in inherited cancer susceptibility. While some of these genes have been implicated in the pathogenesis of relatively rare, highly-penetrant cancer syndromes (e.g. (Source: Seminars in Oncology)
Source: Seminars in Oncology - September 21, 2016 Category: Cancer & Oncology Authors: Elena Stoffel, Kathleen A. Cooney Source Type: research
Strategies for Clinical Implementation of Screening for Hereditary Cancer Syndromes
Hereditary cancer syndromes generally account for 5-10% of malignancies. While these syndromes are rare, affected patients carry significantly elevated risks of developing cancer, as do their at-risk relatives. Identification of these patients is critical to ensure timely and appropriate genetic testing relevant to cancer patients and their relatives. Several guidelines and tools are available to assist clinicians. Patients suspected to have hereditary cancer syndromes should be offered genetic testing in the setting of genetic counseling by a qualified genetics professional. (Source: Seminars in Oncology)
Source: Seminars in Oncology - September 20, 2016 Category: Cancer & Oncology Authors: Brandie Heald, Jessica Marquard, Pauline Funchain Source Type: research
Genetic Predisposition to Endocrine Tumors: Diagnosis, Surveillance and Challenges in Care
Endocrine tumor syndromes, e.g. Multiple Endocrine Neoplasia type 1& 2, were among the first recognized hereditary predisposition syndromes to tumor development. Over time, the number of endocrine tumor syndromes has significantly expanded, e,g, with the recent inclusion of Hereditary Paraganglioma Syndromes. Associations of non-endocrine tumors with hereditary endocrine tumor syndromes and endocrine tumors with non-classical endocrine tumor syndromes have emerged. These findings have certainly expanded the scope of care, necessitating a multidisciplinary approach by a team of medical professionals and researchers, integra...
Source: Seminars in Oncology - September 20, 2016 Category: Cancer & Oncology Authors: Elisabeth Joye Petr, Tobias Else Source Type: research
Genetic predisposition in gynecologic cancers
This review article discusses the diagnosis and management of hereditary ovarian cancer and hereditary uterine cancer. The key recommendations highlighted are: All women with high grade non-mucinous epithelial ovarian cancer should be offered at least BRCA1 and BRCA2 genetic testing. The care of women with BRCA-associated ovarian cancer should be tailored to their mutation status. Risk-reducing bilateral salpingo-oophorectomy is recommended for women with BRCA1/2 mutations. Women with endometrial cancer should be assessed for the possibility of Lynch syndrome. (Source: Seminars in Oncology)
Source: Seminars in Oncology - September 19, 2016 Category: Cancer & Oncology Authors: Molly S. Daniels, Karen H. Lu Source Type: research
Genetic Changes Associated with Testicular Cancer Susceptibility
Testicular germ cell tumor (TGCT) is a highly heritable cancer primarily affecting young white men. Genome-wide association studies (GWAS) have been particularly effective in identifying multiple common variants with strong contribution to TGCT risk. These loci identified through association studies have implicated multiple genes as associated with TGCT predisposition, many of which are unique among cancer types, and regulate processes such as pluripotency, sex specification and microtubule assembly. (Source: Seminars in Oncology)
Source: Seminars in Oncology - September 19, 2016 Category: Cancer & Oncology Authors: Louise C. Pyle, Katherine L. Nathanson Source Type: research
“Genetic Predisposition in Gynecologic Cancers”
This review article discusses the diagnosis and management of hereditary ovarian cancer and hereditary uterine cancer. The key recommendations highlighted are: All women with high grade non-mucinous epithelial ovarian cancer should be offered at least BRCA1 and BRCA2 genetic testing. The care of women with BRCA-associated ovarian cancer should be tailored to their mutation status. Risk reducing bilateral salpingo-oophorectomy is recommended for women with BRCA1/2 mutations. Women with endometrial cancer should be assessed for the possibility of Lynch syndrome. (Source: Seminars in Oncology)
Source: Seminars in Oncology - September 19, 2016 Category: Cancer & Oncology Authors: Molly S. Daniel, Karen H. Lu Source Type: research
Genetic predisposition to colorectal cancer: Implications for treatment and prevention
Colorectal cancer (CRC) is the third most common cancer diagnosed in men and women and approximately 5% of cases are associated with identifiable germline mutations associated with hereditary cancer syndromes. Lifetime risks for CRC can approach 50% –80% for mutation carriers in the absence of endoscopic and/or surgical intervention, and early identification of at-risk individuals can guide clinical interventions for cancer prevention and treatment. Personal and family history and molecular phenotype of CRC tumors are used in determining whic h patients should be referred for clinical genetic evaluation. (Source: Seminars in Oncology)
Source: Seminars in Oncology - August 31, 2016 Category: Cancer & Oncology Authors: Elena M. Stoffel, Matthew B. Yurgelun Source Type: research
Predisposition to Colorectal Cancer: Implications for Treatment and Prevention
Colorectal cancer (CRC) is the third most common cancer diagnosed in men and women and approximately 5% of cases are associated with identifiable germline mutations associated with hereditary cancer syndromes. Lifetime risks for CRC can approach 50-80% for mutation carriers in the absence of endoscopic and/or surgical intervention, and early identification of at-risk individuals can guide clinical interventions for cancer prevention and treatment. Personal and family history and molecular phenotype of CRC tumors are used in determining which patients should be referred for clinical genetic evaluation. (Source: Seminars in Oncology)
Source: Seminars in Oncology - August 31, 2016 Category: Cancer & Oncology Authors: Elena M. Stoffel, Matthew B. Yurgelun Source Type: research
Genetic Predisposition to Melanoma
Malignant melanoma is a rare, often fatal form of skin cancer with a complex multigenic etiology. The incidence of melanoma is increasing at an alarming rate. A number of heritable factors contribute to a patient ’s overall melanoma risk, including response to ultraviolet light, nevus number, and pigmentation characteristics, such as eye and hair color. Approximately 5-10% of melanoma cases are familial, yet the majority of familial cases lack identifiable germ-line mutations in known susceptibility genes. (Source: Seminars in Oncology)
Source: Seminars in Oncology - August 31, 2016 Category: Cancer & Oncology Authors: Jason E. Hawkes, Amanda Truong, Laurence J. Meyer Source Type: research
Familial Prostate Cancer
Prostate cancer is the most commonly diagnosed cancer among men in the United States as well as most Western countries. A significant proportion of men report having a positive family history of prostate cancer in a first-degree relative (father, brother, son), which is important in that family history is one of the only established risk factors for the disease and plays a role in decision-making for prostate cancer screening. Familial aggregation of prostate cancer is considered a surrogate marker of genetic susceptibility to developing the disease, but shared environment cannot be excluded as an explanation for clusterin...
Source: Seminars in Oncology - August 17, 2016 Category: Cancer & Oncology Authors: Veda N. Giri, Jennifer Beebe-Dimmer Source Type: research
Functional crosstalk between WNT signaling and tyrosine kinase signaling in cancer
The publishers regret that the author ’s first name was misspelled in the original publication. (Source: Seminars in Oncology)
Source: Seminars in Oncology - July 31, 2016 Category: Cancer & Oncology Authors: Jamie N. Anastas Tags: Erratum Source Type: research
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(Source: Seminars in Oncology)
Source: Seminars in Oncology - July 31, 2016 Category: Cancer & Oncology Source Type: research
