Preimplantation genetic diagnosis of familial adenomatous polyposis

Davis, Tenielle; Song, Bi; Cram, David S.

doi:10.1016/s1472-6483(10)60662-1

Cited by 9 publications

(4 citation statements)

References 9 publications

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“…Of the nine embryos that were analyzed, five embryos were affected and four were unaffected. Two unaffected embryos were transferred on day 4 resulting in a triplet pregnancy and the birth of three healthy babies [ 69 ]. Today, PGD is an acceptable and potentially preferable method to reduce the birth risk of babies affected with FAP.…”

Section: Prenatal Diagnosis Pregnancy and Genetic Counselingmentioning

confidence: 99%

Familial adenomatous polyposis

Half

Bercovich

Rozen

2009

Orphanet J Rare Dis

488

414

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Familial adenomatous polyposis (FAP) is characterized by the development of many tens to thousands of adenomas in the rectum and colon during the second decade of life. FAP has an incidence at birth of about 1/8,300, it manifests equally in both sexes, and accounts for less than 1% of colorectal cancer (CRC) cases. In the European Union, prevalence has been estimated at 1/ 11,300-37,600. Most patients are asymptomatic for years until the adenomas are large and numerous, and cause rectal bleeding or even anemia, or cancer develops. Generally, cancers start to develop a decade after the appearance of the polyps. Nonspecific symptoms may include constipation or diarrhea, abdominal pain, palpable abdominal masses and weight loss. FAP may present with some extraintestinal manifestations such as osteomas, dental abnormalities (unerupted teeth, congenital absence of one or more teeth, supernumerary teeth, dentigerous cysts and odontomas), congenital hypertrophy of the retinal pigment epithelium (CHRPE), desmoid tumors, and extracolonic cancers (thyroid, liver, bile ducts and central nervous system). A less aggressive variant of FAP, attenuated FAP (AFAP), is characterized by fewer colorectal adenomatous polyps (usually 10 to 100), later age of adenoma appearance and a lower cancer risk. Some lesions (skull and mandible osteomas, dental abnormalities, and fibromas on the scalp, shoulders, arms and back) are indicative of the Gardner variant of FAP. Classic FAP is inherited in an autosomal dominant manner and results from a germline mutation in the adenomatous polyposis (APC) gene. Most patients (~70%) have a family history of colorectal polyps and cancer. In a subset of individuals, a MUTYH mutation causes a recessively inherited polyposis condition, MUTYH-associated polyposis (MAP), which is characterized by a slightly increased risk of developing CRC and polyps/adenomas in both the upper and lower gastrointestinal tract. Diagnosis is based on a suggestive family history, clinical findings, and large bowel endoscopy or full colonoscopy. Whenever possible, the clinical diagnosis should be confirmed by genetic testing. When the APC mutation in the family has been identified, genetic testing of all first-degree relatives should be performed. Presymptomatic and prenatal (amniocentesis and chorionic villous sampling), and even preimplantation genetic testing is possible. Referral to a geneticist or genetic counselor is mandatory. Differential diagnoses include other disorders causing multiple polyps (such as Peutz-Jeghers syndrome, familial juvenile polyps or hyperplastic polyposis, hereditary mixed polyposis syndromes, and Lynch syndrome). Cancer prevention and maintaining a good quality of life are the main goals of management and regular and systematic follow-up and supportive care should be offered to all patients. By the late teens or early twenties, colorectal cancer prophylactic surgery is advocated. The recommended alternatives are total proctocolectomy and ileoanal pouch or ileorectal anastomosis for AFAP. ...

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Section: Prenatal Diagnosis Pregnancy and Genetic Counselingmentioning

confidence: 99%

Familial adenomatous polyposis

Half

Bercovich

Rozen

2009

Orphanet J Rare Dis

488

414

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“…Embryos are tested for a known genetic mutation prior to implantation of the embryo [14,15]. Only embryos that do not have the genetic mutation are implanted, thus significantly reducing the likelihood of transmitting the genetic condition.…”

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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“… 22 and Davis et al. 28 RB1 Autosomal dominant Caused by pathogenic variants in the RB1 gene Single base pair substitution at the 5′ end of intron 12 (splice site pathogenic variant) of the RB gene (1353 + 1G→A). Normal GT splice consensus sequence following exon 12 is changed by this G→A transition pathogenic variant Retinoblastoma: malignant tumor of the retina Xu et al.…”

Section: Hereditary Cancer Predisposition Genes and Diseasesmentioning

confidence: 99%

Preimplantation genetic testing for embryos predisposed to hereditary cancer: Possibilities and challenges

Albujja,

Al-Ghedan,

Dakshnamoorthy

et al. 2024

Cancer Pathogenesis and Therapy

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Preimplantation genetic diagnosis of familial adenomatous polyposis

Cited by 9 publications

References 9 publications

Familial adenomatous polyposis

Familial adenomatous polyposis

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

Preimplantation genetic testing for embryos predisposed to hereditary cancer: Possibilities and challenges

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