keyword
MENU ▼
Read by QxMD icon Read
search

Hereditary genetic susceptibility to cancer

keyword
https://www.readbyqxmd.com/read/29360161/germline-mutation-prevalence-in-individuals-with-pancreatic-cancer-and-a-history-of-previous-malignancy
#1
Beth Dudley, Eve Karloski, Federico A Monzon, Aatur D Singhi, Stephen E Lincoln, Nathan Bahary, Randall E Brand
BACKGROUND: Approximately 10% of pancreatic adenocarcinoma (PC) cases are attributed to hereditary causes. Individuals with PC and a personal history of another cancer associated with hereditary breast and ovarian cancer (HBOC) or Lynch syndrome (LS) may be more likely to carry germline mutations. METHODS: Participants with PC and a history of cancer were selected from a pancreatic disease registry. Of 1296 individuals with PC, 149 had a relevant history of cancer...
January 23, 2018: Cancer
https://www.readbyqxmd.com/read/29356578/no-evidence-for-the-pathogenicity-of-the-brca2-c-6937%C3%A2-%C3%A2-594t-g-deep-intronic-variant-a-case-control-analysis
#2
Julie Dutil, Lenin Godoy, Rafael Rivera-Lugo, Nelly Arroyo, Elinette Albino, Luis Negrón, Alvaro N Monteiro, Jaime L Matta, Miguel Echenique
BACKGROUND: The role of deep intronic variants in hereditary cancer susceptibility has been largely understudied. Previously, the BRCA2 c.6937 + 594T>G variant has been shown to preferentially promote the inclusion of a 95 nucleotide cryptic exon and to introduce a premature termination codon. Our objective was to further assess the pathogenicity of the BRCA2 c.6937 + 594T>G deep intronic variant. PATIENTS AND METHODS: We examined the association between BRCA2 c...
January 22, 2018: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/29341116/rare-missense-mutations-in-recql-and-polg-associate-with-inherited-predisposition-to-breast-cancer
#3
Anna Tervasmäki, Tuomo Mantere, Jaana M Hartikainen, Saila Kauppila, Hang-Mao Lee, Susanna Koivuluoma, Mervi Grip, Peeter Karihtala, Arja Jukkola-Vuorinen, Arto Mannermaa, Robert Winqvist, Katri Pylkäs
Several known breast cancer susceptibility genes with moderate-to-high risk alleles encode proteins involved in DNA damage response (DDR). As these explain less than half of the hereditary breast cancer cases, additional predisposing alleles are likely to be discovered. Many of the previous studies utilizing massive parallel sequencing have focused on the protein-truncating variants, and the role of rare missense mutations has remained poorly addressed. In order to identify novel susceptibility factors, we have systematically analyzed the data from our parallel sequencing of 796 DDR genes in 189 Northern Finnish hereditary breast cancer patients for rare missense variants, predicted as deleterious...
January 17, 2018: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/29204810/high-risk-palliative-care-patients-knowledge-and-attitudes-about-hereditary-cancer-testing-and-dna-banking
#4
John M Quillin, Oluwabunmi Emidio, Brittany Ma, Lauryn Bailey, Thomas J Smith, In Guk Kang, Brandon J Yu, Oluwafemi Patrick Owodunni, Mohammed Abusamaan, Rab Razzak, Joann N Bodurtha
Even at the end of life, testing cancer patients for inherited susceptibility may provide life-saving information to their relatives. Prior research suggests palliative care inpatients have suboptimal understanding of genetic importance, and testing may be underutilized in this clinical setting. These conclusions are based on limited research. This study aimed to estimate genetic testing prevalence among high-risk palliative care patients in a National Cancer Institute-designated comprehensive cancer center...
December 4, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29179257/is-the-fshr-2039a-g-variant-associated-with-susceptibility-to-testicular-germ-cell-cancer
#5
A K Bang, A S Busch, K Almstrup, J Gromoll, S Kliesch, E Rajpert-De Meyts, N E Skakkebaek, A Juul, F Tüttelmann, N Jørgensen
Testicular germ cell cancer (TGCC) is derived from germ cell neoplasia in situ (GCNIS), which arises due to niche disturbances affecting the Sertoli cells. It is believed that exogenous endocrine factors have a crucial role in governing neoplastic transformation but on a strong hereditary background. Follicle-stimulating hormone (FSH) is the major regulatory hormone of the Sertoli cells. FSH signalling-related single-nucleotide polymorphisms (SNPs) have previously been shown to affect FSH action in men at different levels...
November 27, 2017: Andrology
https://www.readbyqxmd.com/read/29166932/bap1-case-report-and-insight-into-a-novel-tumor-suppressor
#6
Kanad Ghosh, Badri Modi, William D James, Brian C Capell
BACKGROUND: BRCA1-Associated-Protein 1 (BAP1) is a dynamic tumor suppressor which, when mutated, has been associated with an increased risk of uveal melanoma, cutaneous melanoma, mesothelioma, and several other cancers. Germline BAP1 mutations have been extensively studied, where they have been found to cause hereditary cancer susceptibility. However, their sporadic counterparts, tumors that display a loss of BAP1 expression due to somatically arising mutations in the BAP1 gene, remain a poorly described entity...
November 22, 2017: BMC Dermatology
https://www.readbyqxmd.com/read/29158803/association-between-mismatch-repair-genetic-variation-and-the-risk-of-multiple-primary-cancers-a-meta-analysis
#7
Pengfei Kong, Ruiyan Wu, Yadong Lan, Wenzhuo He, Chenlu Yang, Chenxi Yin, Qiong Yang, Chang Jiang, Dazhi Xu, Liangping Xia
Microsatellites instability (MSI) is a risk factor for multiple primary cancers (MPCs). However, a variety of studies focused on the risk in the hereditary non-polyposis colorectal cancer (HNPCC) not the sporadic colorectal cancer (CRC) patients. The aim of this meta-analysis was to comprehensive overview and quantitative summary the association between MSI and risk of MPCs. A comprehensive literature search in MEDLINE, EMBASE, Web of science, ScienceDirect, Weily and OVID was conducted. Up to May 2016, we identified 22 observational studies...
2017: Journal of Cancer
https://www.readbyqxmd.com/read/29132562/breast-cancer-disparities-how-can-we-leverage-genomics-to-improve-outcomes
#8
REVIEW
Melissa B Davis, Lisa A Newman
Breast cancer mortality rates are higher in African American compared with white American women. Disproportionately rising incidence rates, coupled with higher rates of biologically aggressive disease among African Americans is resulting in a widening of the mortality disparity. Higher rates of triple-negative breast cancer among African American women, as well as women from western sub-Saharan Africa, has prompted questions regarding the role of African ancestry as a marker of hereditary susceptibility for specific disease phenotypes...
January 2018: Surgical Oncology Clinics of North America
https://www.readbyqxmd.com/read/29025585/genetic-gastric-cancer-susceptibility-in-the-international-clinical-cancer-genomics-community-research-network
#9
Thomas Slavin, Susan L Neuhausen, Christina Rybak, Ilana Solomon, Bita Nehoray, Kathleen Blazer, Mariana Niell-Swiller, Aaron W Adamson, Yate-Ching Yuan, Kai Yang, Sharon Sand, Danielle Castillo, Josef Herzog, Xiwei Wu, Shu Tao, Tanya Chavez, Yanghee Woo, Joseph Chao, Pamela Mora, Darling Horcasitas, Jeffrey Weitzel
Few susceptibility genes for gastric cancer have been identified. We sought to identify germline susceptibility genes from participants with gastric cancer from an international hereditary cancer research network. Adults with gastric cancer of any histology, and with a germline DNA sample (n = 51), were retrospectively selected. For those without previously identified germline mutations (n = 43), sequencing was performed for 706 candidate genes. Twenty pathogenic or likely pathogenic variants were identified among 18 participants...
October 2017: Cancer Genetics
https://www.readbyqxmd.com/read/29023082/be-vigilant-for-skin-manifestations-of-inherited-cancer-syndromes
#10
Alice SM Tidman
More than 200 hereditary cancer susceptibility syndromes have been described, and it is thought that they account for 5-10% of all cancers. Many have dermatological manifestations (usually lesions, occasionally rashes) which frequently precede other systemic pathology. Dermatological signs are usually non-specific and often trivial in appearance, making their significance easy to overlook and a clinical diagnosis challenging. Histological examination is often required to differentiate lesions. They are usually benign and pathologically unrelated to the primary tumours, with the exception of the atypical moles of the dysplastic naevus syndrome, and may present simply as a cosmetic problem for the patient...
January 2017: Practitioner
https://www.readbyqxmd.com/read/28973356/setd6-dominant-negative-mutation-in-familial-colorectal-cancer-type-x
#11
Lorena Martín-Morales, Michal Feldman, Zlata Vershinin, Pilar Garre, Trinidad Caldés, Dan Levy
Familiar colorectal cancer type X (FCCTX) comprises families that fulfill the Amsterdam criteria for hereditary non-polyposis colorectal cancer, but that lack the mismatch repair deficiency that defines the Lynch syndrome. Thus, the genetic cause that increases the predisposition to colorectal and other related cancers in families with FCCTX remains to be elucidated. Using whole-exome sequencing, we have identified a truncating mutation in the SETD6 gene (c.791_792insA, p.Met264IlefsTer3) in all the affected members of a FCCTX family...
November 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28945723/genetic-testing-challenges-and-changes-in-testing-for-hereditary-cancer-syndromes%C3%A2
#12
Elisabeth King, Suzanne M Mahon
BACKGROUND: The practice of genetic testing for hereditary cancer syndromes has changed dramatically in recent years, and patients often approach oncology nurses requesting information about genetic testing.
. OBJECTIVES: This article aims to explore changes in cancer genetics, the role of genetics professionals in providing comprehensive genetic care, and the implications of these new developments in genetics for oncology nurses.
. METHODS: A literature review was conducted and focused on articles about the updating of genetic tests with panel testing, insurance changes, alternative genetic counseling strategies, and direct-to-consumer genetic testing...
October 1, 2017: Clinical Journal of Oncology Nursing
https://www.readbyqxmd.com/read/28944238/targeted-sequencing-of-36-known-or-putative-colorectal-cancer-susceptibility-genes
#13
Melissa S DeRycke, Shanaka Gunawardena, Jessica R Balcom, Angela M Pickart, Lindsey A Waltman, Amy J French, Shannon McDonnell, Shaun M Riska, Zachary C Fogarty, Melissa C Larson, Sumit Middha, Bruce W Eckloff, Yan W Asmann, Matthew J Ferber, Robert W Haile, Steven Gallinger, Mark Clendenning, Christophe Rosty, Aung K Win, Daniel D Buchanan, John L Hopper, Polly A Newcomb, Loic Le Marchand, Ellen L Goode, Noralane M Lindor, Stephen N Thibodeau
BACKGROUND: Mutations in several genes predispose to colorectal cancer. Genetic testing for hereditary colorectal cancer syndromes was previously limited to single gene tests; thus, only a very limited number of genes were tested, and rarely those infrequently mutated in colorectal cancer. Next-generation sequencing technologies have made it possible to sequencing panels of genes known and suspected to influence colorectal cancer susceptibility. METHODS: Targeted sequencing of 36 known or putative CRC susceptibility genes was conducted for 1231 CRC cases from five subsets: (1) Familial Colorectal Cancer Type X (n = 153); (2) CRC unselected by tumor immunohistochemical or microsatellite stability testing (n = 548); (3) young onset (age <50 years) (n = 333); (4) proficient mismatch repair (MMR) in cases diagnosed at ≥50 years (n = 68); and (5) deficient MMR CRCs with no germline mutations in MLH1, MSH2, MSH6, or PMS2 (n = 129)...
September 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28931501/cancer-predisposition-cascade-screening-for-hereditary-breast-ovarian-cancer-and-lynch-syndromes-in-switzerland-study-protocol
#14
Maria C Katapodi, Valeria Viassolo, Maria Caiata-Zufferey, Christos Nikolaidis, Rosmarie Bührer-Landolt, Nicole Buerki, Rossella Graffeo, Henrik Csaba Horváth, Christian Kurzeder, Manuela Rabaglio, Michael Scharfe, Corinne Urech, Tobias E Erlanger, Nicole Probst-Hensch, Karl Heinimann, Viola Heinzelmann-Schwarz, Olivia Pagani, Pierre O Chappuis
BACKGROUND: Breast, colorectal, ovarian, and endometrial cancers constitute approximately 30% of newly diagnosed cancer cases in Switzerland, affecting more than 12,000 individuals annually. Hundreds of these patients are likely to carry germline pathogenic variants associated with hereditary breast ovarian cancer (HBOC) or Lynch syndrome (LS). Genetic services (counseling and testing) for hereditary susceptibility to cancer can prevent many cancer diagnoses and deaths through early identification and risk management...
September 20, 2017: JMIR Research Protocols
https://www.readbyqxmd.com/read/28832484/practice-bulletin-no-182-hereditary-breast-and-ovarian-cancer-syndrome
#15
(no author information available yet)
Hereditary breast and ovarian cancer syndrome is an inherited cancer-susceptibility syndrome characterized by multiple family members with breast cancer, ovarian cancer, or both. Based on the contemporary understanding of the origins and management of ovarian cancer and for simplicity in this document, ovarian cancer also refers to fallopian tube cancer and primary peritoneal cancer. Clinical genetic testing for gene mutations allows more precise identification of those women who are at an increased risk of inherited breast cancer and ovarian cancer...
September 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28832475/practice-bulletin-no-182-summary-hereditary-breast-and-ovarian-cancer-syndrome
#16
(no author information available yet)
Hereditary breast and ovarian cancer syndrome is an inherited cancer-susceptibility syndrome characterized by multiple family members with breast cancer, ovarian cancer, or both. Based on the contemporary understanding of the origins and management of ovarian cancer and for simplicity in this document, ovarian cancer also refers to fallopian tube cancer and primary peritoneal cancer. Clinical genetic testing for gene mutations allows more precise identification of those women who are at an increased risk of inherited breast cancer and ovarian cancer...
September 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28818315/screening-for-familial-cancer-risk-focus-on-breast-cancer
#17
REVIEW
Christine Rousset-Jablonski, Anne Gompel
A breast or an ovarian cancer occurring at a young age and/or in a family where other cases preexist suggests that those patients should be candidates for screening for mutations. Despite decades of medical research, less than 30% of cases with a suggestive personal and/or family history of hereditary breast cancer have an identified causative gene mutation. The vast majority of these cases are due to a mutation in one of the highly penetrant breast cancer genes (BRCA1, BRCA2, PTEN, TP53, CDH1, and STK11) and various guidelines direct the management of these patients...
November 2017: Maturitas
https://www.readbyqxmd.com/read/28766222/breast-cancer-disparities-socioeconomic-factors-versus-biology
#18
Lisa A Newman
Disparities in poverty and health care access barriers have a negative impact on the health and wellness of population subsets that bear a disproportionate share of these socioeconomic disadvantages, such as African Americans and Hispanic/Latina Americans. The more advanced stage distribution of breast cancer in these two population subsets is likely related to imbalance in distribution of socioeconomic resources in the United States. However, differences in the breast cancer burden of population subsets defined by racial/ethnic identity are also influenced by race/ethnicity-associated variation in tumor biology and hereditary susceptibility...
August 1, 2017: Annals of Surgical Oncology
https://www.readbyqxmd.com/read/28713573/a-monograph-proposing-the-use-of-canine-mammary-tumours-as-a-model-for-the-study-of-hereditary-breast-cancer-susceptibility-genes-in-humans
#19
REVIEW
Katie Goebel, Nancy D Merner
Canines are excellent models for cancer studies due to their similar physiology and genomic sequence to humans, companion status and limited intra-breed heterogeneity. Due to their affliction to mammary cancers, canines can serve as powerful genetic models of hereditary breast cancers. Variants within known human breast cancer susceptibility genes only explain a fraction of familial cases. Thus, further discovery is necessary but such efforts have been thwarted by genetic heterogeneity. Reducing heterogeneity is key, and studying isolated human populations have helped in the endeavour...
May 2017: Veterinary Medicine and Science
https://www.readbyqxmd.com/read/28709830/pathologic-findings-in-breast-fallopian-tube-and-ovary-specimens-in-non-brca-hereditary-breast-and-or-ovarian-cancer-syndromes-a-study-of-18-patients-with-deleterious-germline-mutations-in-rad51c-bard1-brip1-palb2-mutyh-or-chek2
#20
J Kenneth Schoolmeester, Ann M Moyer, McKinsey L Goodenberger, Gary L Keeney, Jodi M Carter, Jamie N Bakkum-Gamez
Germline BRCA mutations account for a significant proportion of genetic/familial risk of breast and ovarian cancer (GBOC) susceptibility, but a broader spectrum of GBOC susceptibility genes has emerged in recent years. Genotype to phenotype correlations are known for some established forms of GBOC, however whether such correlations exist for less common GBOC variants is unclear. We reviewed our institution's experience with non-BRCA GBOC, looking specifically for trends in pathologic and clinical features. Eighteen women with deleterious germline mutations in RAD51C (5 patients), BARD1 (1 patient), BRIP1 (2 patients), PALB2 (3 patients), MUTYH (2 patients) or CHEK2 (5 patients) were identified between January 2011 and December 2016...
July 11, 2017: Human Pathology
keyword
keyword
25553
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"