Preimplantation Genetic Diagnosis (PGD) for Heritable Neoplasia

Simpson, Joe Leigh; Carson, Sandra Ann; Cisneros, Pauline

doi:10.1093/jncimonographs/lgi027

Cited by 47 publications

(22 citation statements)

References 20 publications

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“…The disorder does not affect intelligence, shows considerable intra-familial variability in disease expression, and has a number of surveillance and treatment measures; hence, requests for prenatal diagnosis are rare although technically feasible. Preimplantation genetic diagnosis, which has been successfully performed in VHL disease, is currently legal in most European countries with the exception of Austria, Italy, and Switzerland [11,12]. …”

Section: Genetic Backgroundmentioning

confidence: 99%

Management of von Hippel-Lindau Disease: An Interdisciplinary Review

et al. 2014

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Von Hippel-Lindau (VHL) disease is an autosomal dominantly inherited tumour predisposition syndrome with an incidence of 1:36,000 newborns, the estimated prevalence in Europe is about 1-9/100,000. It is associated with an increased risk of developing various benign and malignant tumours, thus affecting multiple organs at different time points in the life of a patient. Disease severity and diversity as well as age at first symptoms vary considerably, and diagnostic delay due to failure of recognition is a relevant issue. The identification of a disease-causing VHL germline mutation subsequently allows family members at risk to undergo predictive genetic testing after genetic counselling. Clinical management of patients and families should optimally be offered as an interdisciplinary approach. Prophylactic screening programs are a cornerstone of care, and have markedly improved median overall survival of affected patients. The aim of this review is to give an overview of the heterogeneous manifestations of the VHL syndrome and to highlight the diagnostic and therapeutic challenges characteristic for this orphan disease. A comprehensive update of the underlying genetic and molecular principles is additionally provided. We also describe how the St. Gallen VHL multidisciplinary group is organised as an example of interdisciplinary cooperation in a tertiary hospital in Switzerland.

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Section: Genetic Backgroundmentioning

confidence: 99%

Management of von Hippel-Lindau Disease: An Interdisciplinary Review

et al. 2014

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“…Fees for IVF and PGD can vary between $12,000 and $15,000 and most often is not covered by insurance. Insurance providers may pay for the genetic testing associated with PGD in order to prevent transmission of a known familial mutation, but may not cover the cost of IVF [17,18]. Few health care systems in the world reimburse for the cost of PGD (i.e., Israel); whereas, insurance companies in the US may occasionally do so if the couple already has infertility problems.…”

Section: Introductionmentioning

confidence: 99%

Knowledge, attitudes, and clinical experience of physicians regarding preimplantation genetic diagnosis for hereditary cancer predisposition syndromes

Brandt

Tschirgi²,

Ready

et al. 2010

Familial Cancer

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Approximately 5-10% of cancers are caused by an inherited predisposition. Individuals affected by hereditary cancer are often concerned about transmitting a predisposition to cancer to their children. Preimplantation genetic diagnosis (PGD) is a technology that allows embryos without a deleterious mutation associated with a hereditary cancer syndrome to be identified and implanted. The aim of this study is to assess the knowledge, attitudes, and clinical experience of physicians regarding PGD for hereditary cancer predisposition syndromes. Hereditary Breast and Ovarian Cancer (HBOC) and Familial Adenomatous Polyposis (FAP) are two hereditary cancer syndromes highlighted in this present study. A survey assessing physicians' attitudes, knowledge, and clinical practice was completed by a total of 373 gynecologic oncologists (GYN ONCs) and obstetrics and gynecologists (OB/GYNs). Physicians had a limited knowledge of PGD for hereditary cancer; however, physicians reported PGD was an appropriate option for patients with either HBOC or FAP. Although GYN ONCs were more likely to care for patients with hereditary cancer (P < 0.001), they were less likely than OB/GYNs to refer their patients to a PGD specialist (P = 0.004). While 80% of GYN ONCs and 91% of OB/GYNs would refer patients to a PGD specialist, clinical experience indicates that only 29% actually referred their patients. Since 68% of physicians had incorrect or limited knowledge of PGD for hereditary cancer, there is a need for additional education.

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“…Knowledge of the specific mutation identified in the family has also been used to perform preimplantation genetic diagnosis in order to implant in vitro fertilized embryos that are unlikely to carry the mutation [18]. Even with extensive molecular analysis, the causative mutation is not always identified.…”

Section: Geneticsmentioning

confidence: 99%

“…The frequency of such evaluations may be every 1-2 months for the first year of life, followed by every 2-3 months for the next year, and then every 3 months until 3 years of age, and finally every 4 -6 months until the age of 6. This schedule can be modified by the examiner based on his own clinical experience.Knowledge of the specific mutation identified in the family has also been used to perform preimplantation genetic diagnosis in order to implant in vitro fertilized embryos that are unlikely to carry the mutation [18]. Even with extensive molecular analysis, the causative mutation is not always identified.…”

mentioning

confidence: 99%

Retinoblastoma: Review of Current Management

Chintagumpala

Chévez-Barrios

Paysse³

et al. 2007

The Oncologist

172

141

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After completing this course, the reader will be able to:1. Discuss the need for a multidisciplinary approach to the management of children with retinoblastoma.2. Identify the patient factors that need to be considered when choosing the most appropriate initial and subsequent treatment for a child with retinoblastoma.3. Describe the role of genetics in the follow-up of retinoblastoma patients.Access and take the CME test online and receive 1 AMA PRA Category 1 Credit ™ at CME.TheOncologist.com CME CME ABSTRACTThe most common ocular cancer in children is retinoblastoma. It affects approximately 300 children in the U.S. every year. It can affect one or both eyes and the disease can be inherited. Altered discoloration of the pupil and strabismus are the usual symptoms that lead to medical attention. Subsequent appropriate diagnostic studies and care provided by a multidisciplinary team, including an ophthalmologist, a pediatric oncologist, a radiation oncologist, and a geneticist, among others, often result in optimal short-term and long-term care. The best initial and subsequent treatments are based on whether the child has unilateral or bilateral disease, the stage of the disease, and the age of the child. Enucleation, chemotherapy, and various forms of radiation therapy along with local ophthalmic therapies can be used in the treatment of retinoblastoma. Cure rates are high in children when the tumor is confined to the eye and has not spread systemically or into the orbit or brain. Children with the heritable form of retinoblastoma are at high risk for developing subsequent malignancies, most commonly sarcomas. This risk is greater for those children with the heritable form of the disease who were exposed to ionizing radiation at age <1 year. Exciting discoveries using animal models are providing new insights into the development of this disease and opening new avenues for targeted therapies that may lead to high cure rates with minimal toxicities. EPIDEMIOLOGYRetinoblastoma is the most common malignant ocular tumor in childhood and affects approximately 1 in 18,000 children Ͻ5 years of age in the U.S. [1]. The incidence is higher in developing countries, and in some countries in Central and South America retinoblastoma is one of the most common solid tumor malignancies in children [2]. The reason for this higher incidence is not clear. Lower socioeconomic status and the presence of human papilloma virus sequences in the retinoblastoma tissue have been implicated [3]. A higher risk for diseases like retinoblastoma in children born through in vitro fertilization was described previously, but a recent large study does not support this association [4]. Approximately 80% of children with retinoblastoma are diagnosed before 3 years of age. The diagnosis of retinoblastoma in children 6 years or older is extremely rare. Children with bilateral retinoblastoma constitute about 20%-30%. Patients with bilateral disease usually present at a younger age (14 -16 months) than patients with unilateral disease (29 -30 months) [...

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Preimplantation Genetic Diagnosis (PGD) for Heritable Neoplasia

Cited by 47 publications

References 20 publications

Management of von Hippel-Lindau Disease: An Interdisciplinary Review

Management of von Hippel-Lindau Disease: An Interdisciplinary Review

Knowledge, attitudes, and clinical experience of physicians regarding preimplantation genetic diagnosis for hereditary cancer predisposition syndromes

Retinoblastoma: Review of Current Management

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