Systematic review of the impact of registration and screening on colorectal cancer incidence and mortality in familial adenomatous polyposis and Lynch syndrome

Barrow, P; Ma, Ke; Lalloo, Fiona; Evans, D. Gareth; Hill, James A.

doi:10.1002/bjs.9316

Cited by 108 publications

(75 citation statements)

References 48 publications

(204 reference statements)

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“…At this time, only a few small studies have attempted to address the psychosocial factors associated with tumor surveillance in pediatric-onset cancer syndromes (38)(39)(40)(41)(42)(43)(44)(45). A multidisciplinary approach with clear surveillance recommendations and support from providers has been demonstrated to improve adherence to surveillance protocols (39,43).…”

Section: Psychosocial Issues Related To Surveillancementioning

confidence: 99%

Genetic Counselor Recommendations for Cancer Predisposition Evaluation and Surveillance in the Pediatric Oncology Patient

Druker

Zelley

McGee

et al. 2017

Clinical Cancer Research

115

132

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As the understanding of the genetic etiology of childhood cancers increases, the need for the involvement of experts familiar with the provision of genetic counseling for this population is paramount. In October 2016, the American Association for Cancer Research organized the AACR Childhood Cancer Predisposition Workshop in which international experts in pediatric cancer predisposition met to establish surveillance guidelines for children with cancer predisposition. Identifying for whom, when, why, and how these cancer predisposition surveillance guidelines should be implemented is essential. Genetic counselors invited to this workshop provide a genetic counseling framework for oncology professionals in this article. Points of entry and recommendations regarding the provision and timing of the initial and subsequent genetic counseling sessions are addressed. The genetic counseling and testing processes are reviewed, and the psychologic impact related to surveillance is explored. Pediatric cancer genetics will continue to grow and evolve as a field, and genetic counseling services will be vital to ensure appropriate identification and management of at-risk children moving forward. Clin Cancer Res; 23(13); e91-e97. Ó2017 AACR.See all articles in the online-only CCR Pediatric Oncology Series.

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Section: Psychosocial Issues Related To Surveillancementioning

confidence: 99%

Genetic Counselor Recommendations for Cancer Predisposition Evaluation and Surveillance in the Pediatric Oncology Patient

Druker

Zelley

McGee

et al. 2017

Clinical Cancer Research

115

132

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“…A systematic review revealed that registration and screening resulted in a significant reduction in colorectal cancer incidence and mortality. 4 With earlier detection of these cancer syndromes and a better surveillance system, patient survival is improved. 5 As prenatal diagnosis is not a widely acceptable reproductive option, PGD to reduce the chance of having offspring with the same genetic predisposition to cancer is probably an attractive option after detailed counselling regarding the procedures and ethical concerns.…”

Section: Discussionmentioning

confidence: 99%

Preimplantation genetic diagnosis for hereditary cancer syndrome: local experience

et al. 2016

Hong Kong Med J

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A 33-year-old woman was referred for consideration of PGD because she was a BRCA2 gene mutation carrier. She had cancer of the right breast at the age of 24 years and underwent modified radical mastectomy with axillary dissection and immediate latissimus dorsi flap reconstruction. Adjuvant chemoradiotherapy was given and she was prescribed tamoxifen for 5 years after the operation. Her paternal grandmother had breast cancer diagnosed at the age of 60 years. Genetic screening was performed and confirmed the patient to be a BRCA2 mutation carrier. Her elder brother and her father underwent the spot test and were found to carry a BRCA2 mutation but her younger sister was not affected. Laparoscopic ovarian cystectomy was performed for a hyperechoic cyst noted over the right ovary, which was confirmed to be an endometriotic cyst. After a multidisciplinary meeting of clinical geneticists, breast surgeons, oncologists, gynaecologists, psychologists, nurses, and academics in the ethics department, followed by psychological assessment and also counselling, she was offered in-vitro fertilisation (IVF) and PGD. Her IVF and PGD cycle was performed in 2011, using an antagonist protocol with letrozole co-treatment. Fifteen oocytes were retrieved and 12 were fertilised following intracytoplasmic sperm injection (ICSI). Blastomere biopsy was performed on eight goodquality cleaving embryos and five were confirmed to be free of the BRCA2 mutation. Two unaffected blastocysts were transferred, resulting in a singleton pregnancy and one unaffected blastocyst was cryopreserved. She delivered a baby boy at term by caesarean section. Postnatal cord blood confirmed that the baby boy did not carry the BRCA2 mutation. Case 2A 33-year-old woman was referred for PGD because she was a carrier of FAP truncating germline mutation APC c.532-8G>A (NG_008481:g93262G>A) with a strong family history of colonic cancer. She underwent colonoscopy surveillance and more than 100 small colonic polyps were found. She was advised to have a prophylactic colectomy but was firm in her request to get pregnant with PGD treatment before the definitive treatment while fully understanding the risks of malignancy because of the delay in definitive treatment. She underwent an IVF cycle in 2012. Of 19 oocytes retrieved, 16 underwent ICSI. Fifteen were fertilised and 15 embryos were available for blastomere biopsy on day 3. Five embryos were found without the FAP mutation and four goodquality blastocysts were cryopreserved due to the risk of ovarian hyperstimulation syndrome. She failed to conceive in two frozen embryo transfer (FET) cycles with one blastocyst replaced in each cycle. She subsequently underwent the last FET cycle with two blastocysts transferred, and a consequent singleton pregnancy. The pregnancy is 26 weeks' gestation at the time of writing. The couple refused an invasive prenatal test and requested postnatal cord blood confirmation. Case 3A 37-year-old patient was referred from a clinical geneticist for PGD as her husband was diagnosed to have neuro...

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“…Timely screening of the FAP families and prophylactic intervention are recommended. 12 In addition to colorectal manifestations, patients with FAP can develop a variety of extra colonic alterations such as other types of cancers, gastric and duodenal polyps, desmoids tumors, hypertrophy of the retinal pigment epithelium, epidermal cysts, and oral manifestations. Oral manifestations can emerge before the development of the colorectal polyps and are reported to be present from 58 to 100% of affected individuals.…”

Section: Introductionmentioning

confidence: 99%

Oral manifestations in patients with familial adenomatous polyposis: A systematic review and meta‐analysis

Almeida

Pachêco‐Pereira

Porporatti

et al. 2016

J of Gastro and Hepatol

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Systematic review of the impact of registration and screening on colorectal cancer incidence and mortality in familial adenomatous polyposis and Lynch syndrome

Abstract: Studies consistently report that registration and screening result in a reduction of CRC incidence and mortality in patients with FAP and LS (level 2a evidence, grade B recommendation). Funding and managerial support for hereditary CRC registries should be made available.

Cited by 108 publications

References 48 publications

Genetic Counselor Recommendations for Cancer Predisposition Evaluation and Surveillance in the Pediatric Oncology Patient

Genetic Counselor Recommendations for Cancer Predisposition Evaluation and Surveillance in the Pediatric Oncology Patient

Preimplantation genetic diagnosis for hereditary cancer syndrome: local experience

Oral manifestations in patients with familial adenomatous polyposis: A systematic review and meta‐analysis

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