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1. Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition (vol 118, pg 266, 2018)

Author

Mikropoulos, C, Selkirk, CGH, Saya, S, Bancroft, E, Vertosick, E, Dadaev, T, Brendler, C, Page, E, Dias, A, Evans, DG, Rothwell, J, Maehle, L, Axcrona, K, Richardson, K, Eccles, D, Jensen, T, Osther, PJ, van Asperen, CJ, Vasen, H, Kiemeney, LA, Ringelberg, J, Cybulski, C, Wokolorczyk, D, Hart, R, Glover, W, Lam, J, Taylor, L, Salinas, M, Feliubadalo, L, Oldenburg, R, Cremers, R, Verhaegh, G, van Zelst-Stams, WA, Oosterwijk, JC, Cook, J, Rosario, DJ, Buys, SS, Conner, T, Domchek, S, Powers, J, Ausems, MGEM, Teixeira, MR, Maia, S, Izatt, L, Schmutzler, R, Rhiem, K, Foulkes, WD, Boshari, T, Davidson, R, Ruijs, M, Helderman-van den Enden, ATJM, Andrews, L, Walker, L, Snape, K, Henderson, A, Jobson, I, Lindeman, GJ, Liljegren, A, Harris, M, Adank, MA, Kirk, J, Taylor, A, Susman, R, Chen-Shtoyerman, R, Pachter, N, Spigelman, A, Side, L, Zgajnar, J, Mora, J, Brewer, C, Gadea, N, Brady, AF, Gallagher, D, van Os, T, Donaldson, A, Stefansdottir, V, Barwell, J, James, PA, Murphy, D, Friedman, E, Nicolai, N, Greenhalgh, L, Obeid, E, Murthy, V, Copakova, L, McGrath, J, Teo, S-H, Strom, S, Kast, K, Leongamornlert, DA, Chamberlain, A, Pope, J, Newlin, AC, Aaronson, N, Ardern-Jones, A, Bangma, C, Castro, E, Dearnaley, D, Eyfjord, J, Falconer, A, Foster, CS, Gronberg, H, Hamdy, FC, Johannsson, O, Khoo, V, Lubinski, J, Grindedal, EM, McKinley, J, Shackleton, K, Mitra, AV, Moynihan, C, Rennert, G, Suri, M, Tricker, K, Moss, S, Kote-Jarai, Z, Vickers, A, Lilja, H, Helfand, BT, Eeles, RA, Mikropoulos, C, Selkirk, CGH, Saya, S, Bancroft, E, Vertosick, E, Dadaev, T, Brendler, C, Page, E, Dias, A, Evans, DG, Rothwell, J, Maehle, L, Axcrona, K, Richardson, K, Eccles, D, Jensen, T, Osther, PJ, van Asperen, CJ, Vasen, H, Kiemeney, LA, Ringelberg, J, Cybulski, C, Wokolorczyk, D, Hart, R, Glover, W, Lam, J, Taylor, L, Salinas, M, Feliubadalo, L, Oldenburg, R, Cremers, R, Verhaegh, G, van Zelst-Stams, WA, Oosterwijk, JC, Cook, J, Rosario, DJ, Buys, SS, Conner, T, Domchek, S, Powers, J, Ausems, MGEM, Teixeira, MR, Maia, S, Izatt, L, Schmutzler, R, Rhiem, K, Foulkes, WD, Boshari, T, Davidson, R, Ruijs, M, Helderman-van den Enden, ATJM, Andrews, L, Walker, L, Snape, K, Henderson, A, Jobson, I, Lindeman, GJ, Liljegren, A, Harris, M, Adank, MA, Kirk, J, Taylor, A, Susman, R, Chen-Shtoyerman, R, Pachter, N, Spigelman, A, Side, L, Zgajnar, J, Mora, J, Brewer, C, Gadea, N, Brady, AF, Gallagher, D, van Os, T, Donaldson, A, Stefansdottir, V, Barwell, J, James, PA, Murphy, D, Friedman, E, Nicolai, N, Greenhalgh, L, Obeid, E, Murthy, V, Copakova, L, McGrath, J, Teo, S-H, Strom, S, Kast, K, Leongamornlert, DA, Chamberlain, A, Pope, J, Newlin, AC, Aaronson, N, Ardern-Jones, A, Bangma, C, Castro, E, Dearnaley, D, Eyfjord, J, Falconer, A, Foster, CS, Gronberg, H, Hamdy, FC, Johannsson, O, Khoo, V, Lubinski, J, Grindedal, EM, McKinley, J, Shackleton, K, Mitra, AV, Moynihan, C, Rennert, G, Suri, M, Tricker, K, Moss, S, Kote-Jarai, Z, Vickers, A, Lilja, H, Helfand, BT, and Eeles, RA

Abstract

This corrects the article DOI: 10.1038/bjc.2017.429.

Published
2018

2. Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition

Author

Mikropoulos, C, Selkirk, CGH, Saya, S, Bancroft, E, Vertosick, E, Dadaev, T, Brendler, C, Page, E, Dias, A, Evans, DG, Rothwell, J, Maehle, L, Axcrona, K, Richardson, K, Eccles, D, Jensen, T, Osther, PJ, van Asperen, CJ, Vasen, H, Kiemeney, LA, Ringelberg, J, Cybulski, C, Wokolorczyk, D, Hart, R, Glover, W, Lam, J (Jan), Taylor, L, Salinas, M, Feliubadalo, L, Oldenburg, Rogier, Cremers, R, Verhaegh, G, van Zelst-Stams, WA, Oosterwijk, JC, Cook, J, Rosario, DJ, Buys, SS, Conner, T, Domchek, S, Powers, J, Ausems, M, Teixeira, MR, Maia, S, Izatt, L, Schmutzler, R, Rhiem, K, Foulkes, WD, Boshari, T, Davidson, R, Ruijs, M, Helderman-van d Enden, A, Andrews, L, Walker, L, Snape, K, Henderson, A, Jobson, I, Lindeman, GJ, Liljegren, A, Harris, M, Adank, MA (Muriel), Kirk, J, Taylor, A, Susman, R, Chen-Shtoyerman, R, Pachter, N, Spigelman, A, Side, L, Zgajnar, J, Mora, J, Brewer, C, Gadea, N, Brady, AF, Gallagher, D, Van Os, T, Donaldson, A, Stefansdottir, V, Barwell, J, James, PA, Murphy, D, Friedman, E, Nicolai, N, Greenhalgh, L, Obeid, E, Murthy, V, Copakova, L, McGrath, J, Teo, SH, Strom, S, Kast, K, Leongamornlert, DA, Chamberlain, A, Pope, J, Newlin, AC, Aaronson, N, Ardern-Jones, A, Bangma, C.H., Castro, E, Dearnaley, D, Eyfjord, J, Falconer, A, Foster, CS (Christopher), Gronberg, H, Hamdy, FC, Johannsson, O, Khoo, V, Lubinski, J, Grindedal, EM, McKinley, J, Shackleton, K, Mitra, AV, Moynihan, C, Rennert, G, Suri, M, Tricker, K, Moss, S, Kote-Jarai, Z, Vickers, A, Lilja, H, Helfand, BT, Eeles, RA, Mikropoulos, C, Selkirk, CGH, Saya, S, Bancroft, E, Vertosick, E, Dadaev, T, Brendler, C, Page, E, Dias, A, Evans, DG, Rothwell, J, Maehle, L, Axcrona, K, Richardson, K, Eccles, D, Jensen, T, Osther, PJ, van Asperen, CJ, Vasen, H, Kiemeney, LA, Ringelberg, J, Cybulski, C, Wokolorczyk, D, Hart, R, Glover, W, Lam, J (Jan), Taylor, L, Salinas, M, Feliubadalo, L, Oldenburg, Rogier, Cremers, R, Verhaegh, G, van Zelst-Stams, WA, Oosterwijk, JC, Cook, J, Rosario, DJ, Buys, SS, Conner, T, Domchek, S, Powers, J, Ausems, M, Teixeira, MR, Maia, S, Izatt, L, Schmutzler, R, Rhiem, K, Foulkes, WD, Boshari, T, Davidson, R, Ruijs, M, Helderman-van d Enden, A, Andrews, L, Walker, L, Snape, K, Henderson, A, Jobson, I, Lindeman, GJ, Liljegren, A, Harris, M, Adank, MA (Muriel), Kirk, J, Taylor, A, Susman, R, Chen-Shtoyerman, R, Pachter, N, Spigelman, A, Side, L, Zgajnar, J, Mora, J, Brewer, C, Gadea, N, Brady, AF, Gallagher, D, Van Os, T, Donaldson, A, Stefansdottir, V, Barwell, J, James, PA, Murphy, D, Friedman, E, Nicolai, N, Greenhalgh, L, Obeid, E, Murthy, V, Copakova, L, McGrath, J, Teo, SH, Strom, S, Kast, K, Leongamornlert, DA, Chamberlain, A, Pope, J, Newlin, AC, Aaronson, N, Ardern-Jones, A, Bangma, C.H., Castro, E, Dearnaley, D, Eyfjord, J, Falconer, A, Foster, CS (Christopher), Gronberg, H, Hamdy, FC, Johannsson, O, Khoo, V, Lubinski, J, Grindedal, EM, McKinley, J, Shackleton, K, Mitra, AV, Moynihan, C, Rennert, G, Suri, M, Tricker, K, Moss, S, Kote-Jarai, Z, Vickers, A, Lilja, H, Helfand, BT, and Eeles, RA

Published
2018

3. Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition.

Author

Mikropoulos C, Hutten Selkirk CG, Saya S, Bancroft E, Vertosick E, Dadaev T, Brendler C, Page E, Dias A, Evans DG, Rothwell J, Maehle L, Axcrona K, Richardson K, Eccles D, Jensen T, Osther PJ, van Asperen CJ, Vasen H, Kiemeney LA, Ringelberg J, Cybulski C, Wokolorczyk D, Hart R, Glover W, Lam J, Taylor L, Salinas M, Feliubadaló L, Oldenburg R, Cremers R, Verhaegh G, van Zelst-Stams WA, Oosterwijk JC, Cook J, Rosario DJ, Buys SS, Conner T, Domchek S, Powers J, Ausems MGEM, Teixeira MR, Maia S, Izatt L, Schmutzler R, Rhiem K, Foulkes WD, Boshari T, Davidson R, Ruijs M, Helderman-van den Enden ATJM, Andrews L, Walker L, Snape K, Henderson A, Jobson I, Lindeman GJ, Liljegren A, Harris M, Adank MA, Kirk J, Taylor A, Susman R, Chen-Shtoyerman R, Pachter N, Spigelman A, Side L, Zgajnar J, Mora J, Brewer C, Gadea N, Brady AF, Gallagher D, van Os T, Donaldson A, Stefansdottir V, Barwell J, James PA, Murphy D, Friedman E, Nicolai N, Greenhalgh L, Obeid E, Murthy V, Copakova L, McGrath J, Teo SH, Strom S, Kast K, Leongamornlert DA, Chamberlain A, Pope J, Newlin AC, Aaronson N, Ardern-Jones A, Bangma C, Castro E, Dearnaley D, Eyfjord J, Falconer A, Foster CS, Gronberg H, Hamdy FC, Johannsson O, Khoo V, Lubinski J, Grindedal EM, McKinley J, Shackleton K, Mitra AV, Moynihan C, Rennert G, Suri M, Tricker K, Moss S, Kote-Jarai Z, Vickers A, Lilja H, Helfand BT, and Eeles RA

Abstract

This corrects the article DOI: 10.1038/bjc.2017.429.

Published
2018
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4. Cancer genetic testing panels for inherited cancer susceptibility: the clinical experience of a large adult genetics practice.

Author

Selkirk CG, Vogel KJ, Newlin AC, Weissman SM, Weiss SM, Wang CH, and Hulick PJ

Subjects
Adult, Female, High-Throughput Nucleotide Sequencing, Humans, Male, Middle Aged, Neoplasms genetics, Early Detection of Cancer methods, Early Detection of Cancer statistics & numerical data, Genetic Predisposition to Disease, Genetic Testing methods, Genetic Testing statistics & numerical data, Patient Acceptance of Health Care
Abstract

Next-generation sequencing genetic testing panels for cancer susceptibility (cancer panels) have recently become clinically available. At present, clinical utility is unknown and there are no set criteria or guidelines established for whom to offer such testing. Although it may be a cost-effective method to test multiple cancer susceptibility genes concurrently, the rate of finding variants of unknown significance (VUS) may be high and testing may yield mutations in genes with no established management recommendations. We describe our Center's experience over a 14-month period (April 2012-June 2013) for patient interest and uptake in cancer panel testing and whether there were predictors of pursuing testing or identifying mutations. Using a clinical ranking system, patients' family histories were ranked from 0 to 3 (low likelihood to high likelihood for underlying genetic susceptibility). The clinical ranking system was assessed to determine its predictability of finding mutations. Of the 689 patients who met inclusion criteria, the option of pursuing a cancer panel was discussed with 357 patients; 63 (17.6 %) patients pursued testing. Those who pursued testing were more likely to be older, male, affected with cancer, affected with multiple primary cancers, and had a higher clinical rank than non-pursuers. There were no significant predictors of finding a mutation on panel testing. Of the 61 patients who have received results, there was a 6.6 % mutation rate and 19.7 % VUS rate. The yield of cancer panels in clinical practice is low and the strength of family history alone may not predict likelihood of finding a mutation.

Published
2014
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5. 10 rare tumors that warrant a genetics referral.

Author

Banks KC, Moline JJ, Marvin ML, Newlin AC, and Vogel KJ

Subjects
Humans, Genetic Predisposition to Disease, Neoplasms genetics, Rare Diseases genetics, Referral and Consultation
Abstract

The number of described cancer susceptibility syndromes continues to grow, as does our knowledge on how to manage these syndromes with the aim of early detection and cancer prevention. Oncologists now have greater responsibility to recognize patterns of cancer that warrant referral for a genetics consultation. While some patterns of common cancers are easy to recognize as related to hereditary cancer syndromes, there are a number of rare tumors that are highly associated with cancer syndromes yet are often overlooked given their infrequency. We present a review of ten rare tumors that are strongly associated with hereditary cancer predisposition syndromes: adrenocortical carcinoma, carcinoid tumors, diffuse gastric cancer, fallopian tube/primary peritoneal cancer, leiomyosarcoma, medullary thyroid cancer, paraganglioma/pheochromocytoma, renal cell carcinoma of chromophobe, hybrid oncocytoic, or oncocytoma histology, sebaceous carcinoma, and sex cord tumors with annular tubules. This review will serve as a guide for oncologists to assist in the recognition of rare tumors that warrant referral for a genetic consultation.

Published
2013
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6. Genetic testing by cancer site: ovary.

Author

Weissman SM, Weiss SM, and Newlin AC

Subjects
Colorectal Neoplasms, Hereditary Nonpolyposis genetics, DNA-Binding Proteins genetics, Female, Genes, BRCA1, Genes, BRCA2, Genetic Counseling, Genetic Predisposition to Disease, Humans, Ovarian Neoplasms diagnosis, Ovarian Neoplasms prevention & control, Peutz-Jeghers Syndrome genetics, Genetic Testing, Neoplastic Syndromes, Hereditary genetics, Ovarian Neoplasms genetics
Abstract

Approximately 1 in every 4 to 5 women with a diagnosis of ovarian cancer has a hereditary gene mutation that is responsible for the development of her cancer. Identifying women at increased risk of developing ovarian cancer due to a hereditary cancer syndrome can allow for early detection or prevention of not only ovarian cancer, but also other cancers, depending on the causative gene. This review focuses on 3 of the most common hereditary ovarian cancer syndromes, hereditary breast and ovarian cancer syndrome (the BRCA1 and BRCA2 genes), Lynch syndrome (also known as hereditary nonpolyposis colorectal cancer syndrome), and Peutz-Jeghers syndrome, including key features, genetics, and management of these syndromes. In addition, newly discovered genes (eg, RAD51C and RAD51D) linked to ovarian cancer are discussed.

Published
2012
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7. Psychological impact of recall in high-risk breast MRI screening.

Author

O'Neill SM, Rubinstein WS, Sener SF, Weissman SM, Newlin AC, West DK, Ecanow DB, Rademaker AW, and Edelman RR

Subjects
Adult, Aged, Aged, 80 and over, Breast Neoplasms genetics, Breast Neoplasms psychology, False Positive Reactions, Female, Genes, BRCA1, Genes, BRCA2, Genetic Predisposition to Disease, Humans, Middle Aged, Mutation, Radiography, Breast Neoplasms diagnostic imaging, Magnetic Resonance Imaging psychology, Mass Screening psychology
Abstract

Purpose: To address the widespread concern that false-positive results during breast MRI screening may have adverse psychological effects., Methods: Impact of Event Scale measurements in 103 high-risk women enrolled in a longitudinal MRI screening study and comparison of subjects with normal results vs. those with prior recall events., Results: Of 189 MRI scans performed, 64 (34%) prompted further evaluation. Subjects with previously abnormal results had significantly higher Avoidance scores at the time of their second MRI. Multivariate analysis showed this was driven by the greater number of BRCA1/2 carriers in that group but was not related to screening recall., Conclusions: Practitioners' concerns about the high false positive rate of breast MRI may not be matched by actual psychological effects in most high-risk women.

Published
2009
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8. Causal heterogeneity in isolated lissencephaly.

Author

Dobyns WB, Elias ER, Newlin AC, Pagon RA, and Ledbetter DH

Subjects
Brain diagnostic imaging, Brain pathology, Child, Preschool, Congenital Abnormalities embryology, Congenital Abnormalities genetics, Female, Growth Disorders complications, Growth Disorders pathology, Humans, Infant, Infant, Newborn, Karyotyping, Magnetic Resonance Imaging, Male, Tomography, X-Ray Computed, Brain abnormalities
Abstract

We report clinical, cytogenetic, and molecular studies in 65 patients with isolated lissencephaly sequence (ILS). All had type I lissencephaly of varying severity and a grossly normal cerebellum. Some had additional brain abnormalities. Facial appearance was essentially normal. All had severe to profound mental retardation, seizures, hypotonia that evolved into spasticity, and feeding difficulties. Clinical and laboratory studies demonstrated etiologic heterogeneity. Molecular studies detected microdeletions in chromosome band 17p13.3 in six of 44 patients tested, confirming that deletion of all or part of this "critical region" is the cause of ILS in some cases. There were slightly larger deletions in the same region in a majority of patients with Miller-Dieker syndrome. One patient had an apparently balanced, de novo reciprocal translocation with breakpoints at Xq22 and 2p25. Four sibs from two families had a new, autosomal recessive syndrome of ILS with neonatal death. Other causes supported by clinical observations include autosomal recessive inheritance, intrauterine infection, and intrauterine perfusion failure. Those ILS probands in whom no etiology could be established had 41 sibs of whom three were affected, giving an empiric recurrence risk of 7%.

Published
1992
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