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Familial Cancer

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https://www.readbyqxmd.com/read/29039136/cancer-risk-management-in-tasmanian-women-with-brca1-and-brca2-mutations
#1
Stephanie Kearton, Karen Wills, Michael Bunting, Penny Blomfield, Paul A James, Jo Burke
Women carrying germline mutations in BRCA1 or BRCA2 have significantly increased lifetime risks of breast and tubo-ovarian cancer. To manage the breast cancer risk women may elect to have breast screening by MRI/mammogram from age 30, to take risk-reducing medication, or to have a prophylactic bilateral mastectomy. To manage the tubo-ovarian cancer risk, the only effective strategy is to have a bilateral salpingo-oophorectomy, recommended by age 40 (BRCA1) or 'around' age 40 (BRCA2). Early studies suggested that uptake of these cancer risk-reducing strategies was low...
October 16, 2017: Familial Cancer
https://www.readbyqxmd.com/read/29027612/penetrance-of-a-rare-familial-mutation-predisposing-to-papillary-thyroid-cancer
#2
Donika Saporito, Pamela Brock, Heather Hampel, Jennifer Sipos, Soledad Fernandez, Sandya Liyanarachchi, Albert de la Chapelle, Rebecca Nagy
Familial non-medullary thyroid cancer (FNMTC) is clinically defined as two or more first-degree relatives with NMTC and appears to follow an autosomal dominant inheritance pattern. Approximately 5-7% of NMTC is hereditary and affects multiple generations with a young age of onset. The primary aim of this study was to determine the age-specific penetrance of NMTC in individuals from a large family with FNMTC with a previously identified private mutation at 4q32, with a secondary aim to determine the penetrance for benign thyroid disease in this family...
October 12, 2017: Familial Cancer
https://www.readbyqxmd.com/read/29019086/family-history-influences-the-tumor-characteristics-and-prognosis-of-breast-cancers-developing-during-postmenopausal-hormone-therapy
#3
Rainer Fagerholm, Maria Faltinova, Kirsi Aaltonen, Kristiina Aittomäki, Päivi Heikkilä, Mervi Halttunen-Nieminen, Heli Nevanlinna, Carl Blomqvist
Long term use of postmenopausal hormone therapy (HT) has been reported to increase breast cancer risk. On the other hand, observational studies suggest that breast cancers diagnosed during HT may have a more favorable prognosis. While family history is a risk factor for breast cancer, and genetic factors also influence prognosis, the role of family history in combination with HT use has been little studied. We investigated the relationship between HT, family history, and prognosis in 584 (267 exposed) familial and 952 (460 exposed) non-familial breast cancer cases, using three survival end points: death from breast cancer (BCS), distant disease free survival (DDFS), and local recurrence free survival (LRFS)...
October 10, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28988289/whole-body-magnetic-resonance-imaging-wb-mri-and-brain-mri-baseline-surveillance-in-tp53-germline-mutation-carriers-experience-from-the-li-fraumeni-syndrome-education-and-early-detection-lead-clinic
#4
Jasmina Bojadzieva, Behrang Amini, Suzanne F Day, Tiffiny L Jackson, Parijatham S Thomas, Brandy J Willis, Whitney R Throckmorton, Najat C Daw, Therese B Bevers, Louise C Strong
Individuals with Li-Fraumeni syndrome (LFS) have a significantly increased lifetime cancer risk affecting multiple organ sites. Therefore, novel comprehensive screening approaches are necessary to improve cancer detection and survival in this population. The objective of this study was to determine the diagnostic performance of whole body MRI (WB-MRI) and dedicated brain MRI screening as part of a comprehensive screening clinic called Li-Fraumeni Education and Early Detection (LEAD) at MD Anderson Cancer Center...
October 7, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28940135/ectopic-retroperitoneal-adrenocortical-carcinoma-in-the-setting-of-lynch-syndrome
#5
Jesse P Wright, Kathleen W Montgomery, Joshua Tierney, Jill Gilbert, Carmen C Solórzano, Kamran Idrees
Adrenocortical carcinoma (ACC) is rare within the adult population. Ectopic ACC proves even rarer. This variant is formed by cortical fragments arrested during embryologic migration. ACC is also known to be associated with several genetic syndromes and has recently been linked to Lynch syndrome in 3% of cases. We present the case of a 68-year-old male with a confirmed diagnosis of Lynch syndrome secondary to a germline MSH2 mismatch-repair gene-mutation who presented with 2 months history of non-specific abdominal pain...
September 22, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28936633/evaluation-of-an-online-family-history-tool-for-identifying-hereditary-and-familial-colorectal-cancer
#6
F G J Kallenberg, C M Aalfs, F O The, C A Wientjes, A C Depla, M W Mundt, P M M Bossuyt, E Dekker
Identifying a hereditary colorectal cancer (CRC) syndrome or familial CRC (FCC) in a CRC patient may enable the patient and relatives to enroll in surveillance protocols. As these individuals are insufficiently recognized, we evaluated an online family history tool, consisting of a patient-administered family history questionnaire and an automated genetic referral recommendation, to facilitate the identification of patients with hereditary CRC or FCC. Between 2015 and 2016, all newly diagnosed CRC patients in five Dutch outpatient clinics, were included in a trial with a stepped-wedge design, when first visiting the clinic...
September 21, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28933000/evaluation-of-current-prediction-models-for-lynch-syndrome-updating-the-premm5-model-to-identify-pms2-mutation-carriers
#7
A Goverde, M C W Spaander, D Nieboer, A M W van den Ouweland, W N M Dinjens, H J Dubbink, C J Tops, S W Ten Broeke, M J Bruno, R M W Hofstra, E W Steyerberg, A Wagner
Until recently, no prediction models for Lynch syndrome (LS) had been validated for PMS2 mutation carriers. We aimed to evaluate MMRpredict and PREMM5 in a clinical cohort and for PMS2 mutation carriers specifically. In a retrospective, clinic-based cohort we calculated predictions for LS according to MMRpredict and PREMM5. The area under the operator receiving characteristic curve (AUC) was compared between MMRpredict and PREMM5 for LS patients in general and for different LS genes specifically. Of 734 index patients, 83 (11%) were diagnosed with LS; 23 MLH1, 17 MSH2, 31 MSH6 and 12 PMS2 mutation carriers...
September 20, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28932927/screening-for-germline-mutations-in-mismatch-repair-genes-in-patients-with-lynch-syndrome-by-next-generation-sequencing
#8
Barbara Luísa Soares, Ayslan Castro Brant, Renan Gomes, Tatiane Pastor, Naye Balzan Schneider, Ândrea Ribeiro-Dos-Santos, Paulo Pimentel de Assumpção, Maria Isabel W Achatz, Patrícia Ashton-Prolla, Miguel Angelo Martins Moreira
Lynch syndrome (LS) is an autosomal dominant disorder, with high penetrance that affects approximately 3% of the cases of colorectal cancer. Affected individuals inherit germline mutations in genes responsible for DNA mismatch repair, mainly at MSH2, MLH1, MSH6 and PMS2. The molecular screening of these individuals is frequently costly and time consuming due to the large size of these genes. In addition, PMS2 mutation detection is often a challenge because there are 16 different pseudogenes identified until now...
September 20, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28918466/mutations-in-context-implications-of-brca-testing-in-diverse-populations
#9
Gabriela E S Felix, Yonglan Zheng, Olufunmilayo I Olopade
Cancer is a common non-communicable disease worldwide, although it exhibits differential population trends in incidence and mortality rates. The differences relate to population structure, environmental risk factors as well as health system organization. This article discusses the potential impact of genetic testing on population health, focusing in particular on the mutational spectrum of breast cancer susceptibility genes in diverse populations. We identify the need for improved access to, and increased investment in, comprehensive cancer risk assessment and genetic testing as well as cancer control measures that take into account lifestyle, environmental, and social factors in understudied minority groups...
September 16, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28914390/germline-mutations-in-lung-cancer-and-personalized-medicine
#10
LETTER
Francesco Cetta, Alessandra Renieri, Elisa Frullanti
No abstract text is available yet for this article.
September 15, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28905261/international-society-for-gastrointestinal-hereditary-tumours-insight
#11
(no author information available yet)
No abstract text is available yet for this article.
September 13, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28900777/an-exploration-of-genotype-phenotype-link-between-peutz-jeghers-syndrome-and-stk11-a-review
#12
REVIEW
Julian Daniell, John-Paul Plazzer, Anuradha Perera, Finlay Macrae
Peutz-Jeghers Syndrome (PJS) is an autosomal dominant hereditary polyposis syndrome. Clinical features include hamartomatous polyps, mucocutaneous pigmentation and an increased predisposition towards developing malignancy. Variants in STK11, a tumour suppressor gene, located on Chromosome 19, predispose to PJS. Peutz-Jeghers Syndrome is associated with increased rates of malignancy, particularly gastrointestinal. However, PJS is also associated with increased gynaecological, testicular and thyroid papillary malignancy...
September 12, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28887784/pancreatic-neuroendocrine-tumor-in-a-patient-with-a-tsc1-variant-case-report-and-review-of-the-literature
#13
REVIEW
Parisa Mortaji, Katherine T Morris, Von Samedi, Steven Eberhardt, Shawnia Ryan
The majority of pancreatic neuroendocrine tumors (PNETs) are sporadic while 10-15% are attributable to one of several familial cancer syndromes. Hereditary forms are more commonly associated with Multiple Endocrine Neoplasia Type I and von Hippel Lindau Syndrome. However, patients with Tuberous sclerosis complex also have an increased incidence of PNETs. More often this has been reported in patients with TSC2 variants. In this case report, we summarize the literature regarding PNETs associated with Tuberous sclerosis complex, as well as present a case of a patient with a TSC1 variant and a PNET...
September 8, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28887722/dental-anomalies-in-pediatric-patients-with-familial-adenomatous-polyposis
#14
Seth Septer, Brenda Bohaty, Robin Onikul, Vandana Kumar, Karen B Williams, Thomas M Attard, Craig A Friesen, Lynn Roosa Friesen
Familial adenomatous polyposis patients often present with non-malignant extra-intestinal manifestations which include dental anomalies that may be evident prior to the appearance of the colonic adenomas. The aims of this study were to describe the prevalence and type of dental anomalies and the relationships between gene mutations and dental anomalies in these patients. Twenty-two pediatric familial adenomatous polyposis patients and 46 controls, who were age and gender matched participated. Familial adenomatous polyposis patient's had a dental examination with panoramic radiograph and medical record review for age at diagnosis, the presence of the adenomatous polyposis coli gene mutation, and determination of other extra-intestinal manifestations on the body...
September 8, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28864920/discovery-of-mutations-in-homologous-recombination-genes-in-african-american-women-with-breast-cancer
#15
Yuan Chun Ding, Aaron W Adamson, Linda Steele, Adam M Bailis, Esther M John, Gail Tomlinson, Susan L Neuhausen
African-American women are more likely to develop aggressive breast cancer at younger ages and experience poorer cancer prognoses than non-Hispanic Caucasians. Deficiency in repair of DNA by homologous recombination (HR) is associated with cancer development, suggesting that mutations in genes that affect this process may cause breast cancer. Inherited pathogenic mutations have been identified in genes involved in repairing DNA damage, but few studies have focused on African-Americans. We screened for germline mutations in seven HR repair pathway genes in DNA of 181 African-American women with breast cancer, evaluated the potential effects of identified missense variants using in silico prediction software, and functionally characterized a set of missense variants by yeast two-hybrid assays...
September 2, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28852913/cancer-patients-intentions-towards-receiving-unsolicited-genetic-information-obtained-using-next-generation-sequencing
#16
Rhodé M Bijlsma, Hester Wessels, Roel H P Wouters, Anne M May, Margreet G E M Ausems, Emile E Voest, Annelien L Bredenoord
Next-generation sequencing (NGS) can be used to generate information about a patient's tumour and personal genome. This powerful diagnostic tool provides solicited and unsolicited hereditary genetic (risk) information that could have consequences for cancer patients and their quality of life. A well-defined approach for returning appropriate genetic risk information is needed in personalized cancer care. A qualitative design with semi-structured interviews was used. We conducted interviews with 24 Dutch patients with different types of cancer, both NGS-experienced and NGS-inexperienced, to learn their intentions, needs and preferences towards receiving unsolicited genetic information obtained using NGS...
August 29, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28819720/immunohistochemical-null-phenotype-for-mismatch-repair-proteins-in-colonic-carcinoma-associated-with-concurrent-mlh1-hypermethylation-and-msh2-somatic-mutations
#17
Tao Wang, Zsofia K Stadler, Liying Zhang, Martin R Weiser, Olca Basturk, Jaclyn F Hechtman, Efsevia Vakiani, Lenard B Saltz, David S Klimstra, Jinru Shia
Microsatellite instability, a well-established driver pathway in colorectal carcinogenesis, can develop in both sporadic and hereditary conditions via different molecular alterations in the DNA mismatch repair (MMR) genes. MMR protein immunohistochemistry (IHC) is currently widely used for the detection of MMR deficiency in solid tumors. The IHC test, however, can show varied staining patterns, posing challenges in the interpretation of the staining results in some cases. Here we report a case of an 80-year-old female with a colonic adenocarcinoma that exhibited an unusual "null" IHC staining pattern with complete loss of all four MMR proteins (MLH1, MSH2, MSH6, and PMS2)...
August 17, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28819700/sporadic-endometrial-adenocarcinoma-with-mmr-deficiency-due-to-biallelic-msh2-somatic-mutations
#18
Bruno Buecher, Antoine De Pauw, Louis Bazire, Claude Houdayer, Alice Fievet, Virginie Moncoutier, Fereshteh Farkhondeh, Samia Melaabi, Dominique Stoppa Lyonnet, Lisa Golmard
The invalidation of the Mismatch Repair (MMR) system is responsible for a so-called "deficient MMR" phenotype (dMMR) characterized by microsatellite instability and abnormal pattern of expression of MMR proteins in tumor tissue. This phenotype occurs in at least 20% of sporadic endometrial adenocarcinomas by epigenetic silencing of MLH1 gene. It is also observed in virtually all tumors occurring in patients with Lynch syndrome by monoallelic germline mutation in one of the MMR genes. The determination of this phenotype (dMMR vs...
August 17, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28803391/mutational-analysis-of-the-rb1-gene-and-the-inheritance-patterns-of-retinoblastoma-in-jordan
#19
Yacoub A Yousef, Abdelghani Tbakhi, Maysa Al-Hussaini, Ibrahim AlNawaiseh, Ala Saab, Amal Afifi, Maysa Naji, Mona Mohammad, Rasha Deebajah, Imad Jaradat, Iyad Sultan, Mustafa Mehyar
Retinoblastoma (RB) is a childhood cancer developing in the retina due to RB1 pathologic variant. Herein we are evaluating the oncogenic mutations in the RB1 gene and the inheritance patterns of RB in the Jordanian patients. In this prospective study, the peripheral blood of 50 retinoblastoma patients was collected, genomic DNA was extracted, mutations were identified using Quantitative multiplex PCR (QM-PCR), Allele-specific PCR, Next Generation Sequencing analysis, and Sanger sequencing. In this cohort of 50 patients, 20(40%) patients had unilateral RB and 30(60%) were males...
August 12, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28785832/a-germline-missense-mutation-in-exon-3-of-the-msh2-gene-in-a-lynch-syndrome-family-correlation-with-phenotype-and-localization-assay
#20
Francesca Bianchi, Elena Maccaroni, Laura Belvederesi, Cristiana Brugiati, Riccardo Giampieri, Federica Bini, Raffaella Bracci, Silvia Pagliaretta, Michela Del Prete, Francesco Piva, Alessandra Mandolesi, Marina Scarpelli, Rossana Berardi
Lynch syndrome is caused by germline mutations in any of the MisMatch Repair (MMR) genes. About 37% of MSH2 variants are missense variants causing single amino-acid substitutions. Whether missense variants affect the normal function of MMR proteins is crucial both to provide affected families a more accurate risk assessment and to offer predictive testing to family members. Here we report one family, fulfilling both Amsterdam I and II criteria and Bethesda guidelines, referred to our center for genetic counselling...
August 7, 2017: Familial Cancer
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