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1. Germline Variation at CDKN2A and Associations with Nevus Phenotypes among Members of Melanoma Families

Author

Taylor, Nicholas J., Mitra, Nandita, Goldstein, Alisa M., Tucker, Margaret A., Avril, Marie-Françoise, Azizi, Esther, Bergman, Wilma, Bishop, D. Timothy, Bressac-de Paillerets, Brigitte, Bruno, William, Calista, Donato, Cannon-Albright, Lisa A., Cuellar, Francisco, Cust, Anne E., Demenais, Florence, Elder, David E., Gerdes, Anne-Marie, Ghiorzo, Paola, Grazziotin, Thais C., Hansson, Johan, Harland, Mark, Hayward, Nicholas K., Hocevar, Marko, Höiom, Veronica, Ingvar, Christian, Landi, Maria Teresa, Landman, Gilles, Larre-Borges, Alejandra, Leachman, Sancy A., Mann, Graham J., Nagore, Eduardo, Olsson, Håkan, Palmer, Jane M., Perić, Barbara, Pjanova, Dace, Pritchard, Antonia, Puig, Susana, van der Stoep, Nienke, Wadt, Karin A.W., Whitaker, Linda, Yang, Xiaohong R., Newton Bishop, Julia A., Gruis, Nelleke A., and Kanetsky, Peter A.

Published
2017
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3. Course Plan for Women's Health.

Author

Whitaker, Linda A.

Abstract

In view of women's misconceptions about their bodies, their sexuality, their mental health, and the health care system, this three-credit evening community college course on women's health needs and concerns was designed. Course objectives include recording and analyzing the effects of nutrition, sleep, exercise, and stress on various body functions; identifying illness risk factors; developing a personal health maintenance plan; discussing the changes relative to both the reproductive and later years of life; presenting an informed consumer rights position according to health care system responsibilities; and identifying, evaluating, and selecting local health resources and alternatives to traditional care. Course activities include class lectures, discussions, and hand-outs, films, panels and guest speakers, practical health maintenance exercises, role playing, reading assignments, and a term paper. Also included is a course calendar, with the topic for each meeting and the corresponding reading assignment, divided into four units: getting to know yourself, basic health maintenance, celebrating the life cycle, and you and the health care system. Development of unit topics is discussed in terms of objectives, teaching aids and strategies, student activities, and class assignments. A sample final exam is appended. (TR)

Published
1978

4. Student Health and the Community College.

Author

Whitaker, Linda A.

Abstract

Research and statistical surveys on student health services and problems at community colleges are reviewed to ascertain administrative attitudes, student health care needs, and areas for improvement. Providing health care for students is said to be generally overlooked by community college professionals who feel it should not be the college's responsibility. A lack of both medical treatment facilities and mental health programs on community college campuses is identified. However, data are presented indicating that because community college students frequently have low socioeconomic status, they cannot afford independent health insurance coverage, and further, that community facilities such as emergency rooms, free clinics, and referral services on which these students rely when they have health problems are inadequate in caring for them. Some innovative programs and practices of health planners on campus are described: cutting health costs by identifying the precursors of disease; adopting self-completed student health appraisal forms as a substitute for traditional physical examinations, generating comprehensive health assessments for students through computer analysis; promoting the "wellness" idea via campus health fairs; and developing and managing health programs with student participation. Suggestions for implementing comprehensive health care programs are offered. (TR)

Published
1977

6. The Arizona Summit: Tough Times in a Tough Land

Author

Whitaker, Linda A and Sturgeon, Melanie I

Subjects
collection development, access, collaborative networks, collection management, deaccessioning, backlogs, reappraisal, Archival Science, sustainability, ethics
Abstract

Western repositories have much to gain and little to lose from statewide initiatives that promote cooperative collection management policies. The region's topography, demographics, boom-bust cycles, and flood of new residents threaten their missions and their very existence. Add competition, backlogs, duplication, and fragmented collections to this volatile mix and it renders the collecting environment untenable.

Published
2020
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7. Melanoma risk for CDKN2A mutation carriers who are relatives of population-based case carriers in Australia and the UK

Author

Cust, Anne E, Harland, Mark, Makalic, Enes, Schmidt, Daniel, Dowty, James G, Aitken, Joanne F, Agha-Hamilton, Chantelle, Armstrong, Bruce K, Barrett, Jenny H, Chan, May, Chang, Yu-Mei, Gascoyne, Joanne, Giles, Graham G, Holland, Elizabeth A, Kefford, Richard F, Kukalizch, Kairen, Lowery, Johanna, Randerson-Moor, Juliette A, Schmid, Helen, Taylor, Claire F, Whitaker, Linda, Hopper, John L, Newton-Bishop, Julia A, Mann, Graham J, Bishop, D Timothy, and Jenkins, Mark A

Published
2011
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8. Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents

Author

Goldstein, Alisa M, Chan, May, Harland, Mark, Hayward, Nicholas K, Demenais, Florence, Bishop, D Timothy, Azizi, Esther, Bergman, Wilma, Bianchi-Scarra, Giovanna, Bruno, William, Calista, Donato, Albright, Lisa A Cannon, Chaudru, Valerie, Chompret, Agnes, Cuellar, Francisco, Elder, David E, Ghiorzo, Paola, Gillanders, Elizabeth M, Gruis, Nelleke A, Hansson, Johan, Hogg, David, Holland, Elizabeth A, Kanetsky, Peter A, Kefford, Richard F, Landi, Maria Teresa, Lang, Julie, Leachman, Sancy A, MacKie, Rona M, Magnusson, Veronica, Mann, Graham J, Bishop, Julia Teresa, Palmer, Jane M, Puig, Susana, Puig-Butille, Joan A, Stark, Mitchell, Tsao, Hensin, Tucker, Margaret A, Whitaker, Linda, and Yakobson, Emanuel

Published
2007

11. Prevalence and predictors of germline CDKN2A mutations for melanoma cases from Australia, Spain and the United Kingdom

Author

Harland, Mark, Cust, Anne E, Badenas, Celia, Chang, Yu-Mei, Holland, Elizabeth A, Aguilera, Paula, Aitken, Joanne F, Armstrong, Bruce K, Barrett, Jennifer H, Carrera, Cristina, Chan, May, Gascoyne, Joanne, Giles, Graham G, Agha-Hamilton, Chantelle, Hopper, John L, Jenkins, Mark A, Kanetsky, Peter A, Kefford, Richard F, Kolm, Isabel, Lowery, Johanna, Malvehy, Josep, Ogbah, Zighereda, Puig-Butille, Joan-Anton, Orihuela-Segalñs, Jordi, Randerson-Moor, Juliette A, Schmid, Helen, Taylor, Claire F, Whitaker, Linda, Bishop, D Timothy, Mann, Graham J, Newton-Bishop, Julia A, and Puig, Susana

Subjects
Company distribution practices, Health
Abstract

Background Mutations in the CDKN2A and CDK4 genes predispose to melanoma. From three case-control studies of cutaneous melanoma, we estimated the prevalence and predictors of these mutations for people from regions with widely differing latitudes and melanoma incidence. Methods Population-based cases and controls from the United Kingdom (1586 cases, 499 controls) and Australia (596 early-onset cases, 476 controls), and a hospital-based series from Spain (747 cases, 109 controls), were screened for variants in all exons of CDKN2A and the p16INK4A binding domain of CDK4. Results The prevalence of mutations for people with melanoma was similar across regions: 2.3%, 2.5% and 2.0% for Australia, Spain and the United Kingdom respectively. The strongest predictors of carrying a mutation were having multiple primaries (odds ratio (OR) = 5.4, 95% confidence interval (CI: 2.5, 11.6) for 2 primaries and OR = 32.4 (95% CI: 14.7, 71.2) for 3 or more compared with 1 primary only); and family history (OR = 3.8; 95% CI:1.89, 7.5) for 1 affected first- or second-degree relative and OR = 23.2 (95% CI: 11.3, 47.6) for 2 or more compared with no affected relatives). Only 1.1% of melanoma cases with neither a family history nor multiple primaries had mutations. Conclusions There is a low probability ( Keywords: Family history, Multiple primaries, Population-based, Melanoma, CDKN2A, Author(s): Mark Harland[sup.1] , Anne E Cust[sup.2] , Celia Badenas[sup.3,4] , Yu-Mei Chang[sup.1] , Elizabeth A Holland[sup.5] , Paula Aguilera[sup.3,4] , Joanne F Aitken[sup.6] , Bruce K Armstrong[sup.2] , Jennifer [...]

Published
2014
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14. Germline Variation at CDKN2A and Associations with Nevus Phenotypes among Members of Melanoma Families

Author

Taylor, Nicholas J, Mitra, Nandita, Goldstein, Alisa M, Tucker, Margaret A, Avril, Marie-Françoise, Azizi, Esther, Bergman, Wilma, Bishop, D Timothy, Bressac-de Paillerets, Brigitte, Bruno, William, Calista, Donato, Cannon-Albright, Lisa A, Cuellar, Francisco, Cust, Anne E, Demenais, Florence, Elder, David E, Gerdes, Anne-Marie, Ghiorzo, Paola, Grazziotin, Thais C, Hansson, Johan, Harland, Mark, Hayward, Nicholas K, Hocevar, Marko, Höiom, Veronica, Ingvar, Christian, Landi, Maria Teresa, Landman, Gilles, Larre-Borges, Alejandra, Leachman, Sancy A, Mann, Graham J, Nagore, Eduardo, Olsson, Håkan, Palmer, Jane M, Perić, Barbara, Pjanova, Dace, Pritchard, Antonia, Puig, Susana, van der Stoep, Nienke, Wadt, Karin A W, Whitaker, Linda, Yang, Xiaohong R, Newton Bishop, Julia A, Gruis, Nelleke A, Kanetsky, Peter A, Taylor, Nicholas J, Mitra, Nandita, Goldstein, Alisa M, Tucker, Margaret A, Avril, Marie-Françoise, Azizi, Esther, Bergman, Wilma, Bishop, D Timothy, Bressac-de Paillerets, Brigitte, Bruno, William, Calista, Donato, Cannon-Albright, Lisa A, Cuellar, Francisco, Cust, Anne E, Demenais, Florence, Elder, David E, Gerdes, Anne-Marie, Ghiorzo, Paola, Grazziotin, Thais C, Hansson, Johan, Harland, Mark, Hayward, Nicholas K, Hocevar, Marko, Höiom, Veronica, Ingvar, Christian, Landi, Maria Teresa, Landman, Gilles, Larre-Borges, Alejandra, Leachman, Sancy A, Mann, Graham J, Nagore, Eduardo, Olsson, Håkan, Palmer, Jane M, Perić, Barbara, Pjanova, Dace, Pritchard, Antonia, Puig, Susana, van der Stoep, Nienke, Wadt, Karin A W, Whitaker, Linda, Yang, Xiaohong R, Newton Bishop, Julia A, Gruis, Nelleke A, and Kanetsky, Peter A

Abstract

Germline mutations in CDKN2A are frequently identified among melanoma kindreds and are associated with increased atypical nevus counts. However, a clear relationship between pathogenic CDKN2A mutation carriage and other nevus phenotypes including counts of common acquired nevi has not yet been established. Using data from GenoMEL, we investigated the relationships between CDKN2A mutation carriage and 2-mm, 5-mm, and atypical nevus counts among blood-related members of melanoma families. Compared with individuals without a pathogenic mutation, those who carried one had an overall higher prevalence of atypical (odds ratio = 1.64; 95% confidence interval = 1.18-2.28) nevi but not 2-mm nevi (odds ratio = 1.06; 95% confidence interval = 0.92-1.21) or 5-mm nevi (odds ratio = 1.26; 95% confidence interval = 0.94-1.70). Stratification by case status showed more pronounced positive associations among non-case family members, who were nearly three times (odds ratio = 2.91; 95% confidence interval = 1.75-4.82) as likely to exhibit nevus counts at or above the median in all three nevus categories simultaneously when harboring a pathogenic mutation (vs. not harboring one). Our results support the hypothesis that unidentified nevogenic genes are co-inherited with CDKN2A and may influence carcinogenesis.

Published
2017

15. Phenotypic and Histopathological Tumor Characteristics According to CDKN2A Mutation Status among Affected Members of Melanoma Families

Author

Taylor, Nicholas J, Handorf, Elizabeth A, Mitra, Nandita, Avril, Marie-Françoise, Azizi, Esther, Bergman, Wilma, Bianchi-Scarrà, Giovanna, Bishop, D Timothy, Bressac-de Paillerets, Brigitte, Calista, Donato, Cannon-Albright, Lisa A, Cuellar, Francisco, Cust, Anne E, Demenais, Florence, Elder, David E, Friedman, Eitan, Gerdes, Anne-Marie, Ghiorzo, Paola, Goldstein, Alisa M, Grazziotin, Thais C, Hansson, Johan, Hayward, Nicholas K, Hocevar, Marko, Höiom, Veronica, Holland, Elizabeth A, Ingvar, Christian, Landi, Maria Teresa, Landman, Gilles, Larre-Borges, Alejandra, Leachman, Sancy A, Mann, Graham J, Nagore, Eduardo, Olsson, Håkan, Palmer, Jane, Perić, Barbara, Pjanova, Dace, Puig, Susana, Schmid, Helen, van der Stoep, Nienke, Tucker, Margaret A, Wadt, Karin A W, Whitaker, Linda, Yang, Xiaohong R, Newton Bishop, Julia A, Gruis, Nelleke A, Kanetsky, Peter A, Taylor, Nicholas J, Handorf, Elizabeth A, Mitra, Nandita, Avril, Marie-Françoise, Azizi, Esther, Bergman, Wilma, Bianchi-Scarrà, Giovanna, Bishop, D Timothy, Bressac-de Paillerets, Brigitte, Calista, Donato, Cannon-Albright, Lisa A, Cuellar, Francisco, Cust, Anne E, Demenais, Florence, Elder, David E, Friedman, Eitan, Gerdes, Anne-Marie, Ghiorzo, Paola, Goldstein, Alisa M, Grazziotin, Thais C, Hansson, Johan, Hayward, Nicholas K, Hocevar, Marko, Höiom, Veronica, Holland, Elizabeth A, Ingvar, Christian, Landi, Maria Teresa, Landman, Gilles, Larre-Borges, Alejandra, Leachman, Sancy A, Mann, Graham J, Nagore, Eduardo, Olsson, Håkan, Palmer, Jane, Perić, Barbara, Pjanova, Dace, Puig, Susana, Schmid, Helen, van der Stoep, Nienke, Tucker, Margaret A, Wadt, Karin A W, Whitaker, Linda, Yang, Xiaohong R, Newton Bishop, Julia A, Gruis, Nelleke A, and Kanetsky, Peter A

Published
2016

16. Phenotypic and Histopathological Tumor Characteristics According to CDKN2A Mutation Status among Affected Members of Melanoma Families

Author

Taylor, Nicholas J., primary, Handorf, Elizabeth A., additional, Mitra, Nandita, additional, Avril, Marie-Françoise, additional, Azizi, Esther, additional, Bergman, Wilma, additional, Bianchi-Scarrà, Giovanna, additional, Bishop, D. Timothy, additional, Bressac-de Paillerets, Brigitte, additional, Calista, Donato, additional, Cannon-Albright, Lisa A., additional, Cuellar, Francisco, additional, Cust, Anne E., additional, Demenais, Florence, additional, Elder, David E., additional, Friedman, Eitan, additional, Gerdes, Anne-Marie, additional, Ghiorzo, Paola, additional, Goldstein, Alisa M., additional, Grazziotin, Thais C., additional, Hansson, Johan, additional, Hayward, Nicholas K., additional, Hocevar, Marko, additional, Höiom, Veronica, additional, Holland, Elizabeth A., additional, Ingvar, Christian, additional, Landi, Maria Teresa, additional, Landman, Gilles, additional, Larre-Borges, Alejandra, additional, Leachman, Sancy A., additional, Mann, Graham J., additional, Nagore, Eduardo, additional, Olsson, Håkan, additional, Palmer, Jane, additional, Perić, Barbara, additional, Pjanova, Dace, additional, Puig, Susana, additional, Schmid, Helen, additional, van der Stoep, Nienke, additional, Tucker, Margaret A., additional, Wadt, Karin A.W., additional, Whitaker, Linda, additional, Yang, Xiaohong R., additional, Newton Bishop, Julia A., additional, Gruis, Nelleke A., additional, and Kanetsky, Peter A., additional

Published
2016
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17. Germline Variation at CDKN2Aand Associations with Nevus Phenotypes among Members of Melanoma Families

Author

Taylor, Nicholas J., Mitra, Nandita, Goldstein, Alisa M., Tucker, Margaret A., Avril, Marie-Françoise, Azizi, Esther, Bergman, Wilma, Bishop, D. Timothy, Bressac-de Paillerets, Brigitte, Bruno, William, Calista, Donato, Cannon-Albright, Lisa A., Cuellar, Francisco, Cust, Anne E., Demenais, Florence, Elder, David E., Gerdes, Anne-Marie, Ghiorzo, Paola, Grazziotin, Thais C., Hansson, Johan, Harland, Mark, Hayward, Nicholas K., Hocevar, Marko, Höiom, Veronica, Ingvar, Christian, Landi, Maria Teresa, Landman, Gilles, Larre-Borges, Alejandra, Leachman, Sancy A., Mann, Graham J., Nagore, Eduardo, Olsson, Håkan, Palmer, Jane M., Perić, Barbara, Pjanova, Dace, Pritchard, Antonia, Puig, Susana, van der Stoep, Nienke, Wadt, Karin A.W., Whitaker, Linda, Yang, Xiaohong R., Newton Bishop, Julia A., Gruis, Nelleke A., and Kanetsky, Peter A.

Abstract

Germline mutations in CDKN2Aare frequently identified among melanoma kindreds and are associated with increased atypical nevus counts. However, a clear relationship between pathogenic CDKN2Amutation carriage and other nevus phenotypes including counts of common acquired nevi has not yet been established. Using data from GenoMEL, we investigated the relationships between CDKN2Amutation carriage and 2-mm, 5-mm, and atypical nevus counts among blood-related members of melanoma families. Compared with individuals without a pathogenic mutation, those who carried one had an overall higher prevalence of atypical (odds ratio = 1.64; 95% confidence interval = 1.18–2.28) nevi but not 2-mm nevi (odds ratio = 1.06; 95% confidence interval = 0.92–1.21) or 5-mm nevi (odds ratio = 1.26; 95% confidence interval = 0.94–1.70). Stratification by case status showed more pronounced positive associations among non-case family members, who were nearly three times (odds ratio = 2.91; 95% confidence interval = 1.75–4.82) as likely to exhibit nevus counts at or above the median in all three nevus categories simultaneously when harboring a pathogenic mutation (vs. not harboring one). Our results support the hypothesis that unidentified nevogenic genes are co-inherited with CDKN2Aand may influence carcinogenesis.

Published
2017
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19. Reply to P.E. Hutchinson et al

Author

Newton-Bishop, Julia A., primary, Beswick, Samantha, additional, Randerson-Moor, Juliette, additional, Chang, Yu-Mei, additional, Affleck, Paul, additional, Elliott, Faye, additional, Chan, May, additional, Leake, Susan, additional, Karpavicius, Birute, additional, Haynes, Sue, additional, Kukalizch, Kairen, additional, Whitaker, Linda, additional, Jackson, Sharon, additional, Gerry, Edwina, additional, Nolan, Clarissa, additional, Bertram, Chandra, additional, Marsden, Jerry, additional, Elder, David E., additional, Barrett, Jennifer H., additional, and Timothy Bishop, D., additional

Published
2010
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20. Serum 25-Hydroxyvitamin D3 Levels Are Associated With Breslow Thickness at Presentation and Survival From Melanoma

Author

Newton-Bishop, Julia A., primary, Beswick, Samantha, additional, Randerson-Moor, Juliette, additional, Chang, Yu-Mei, additional, Affleck, Paul, additional, Elliott, Faye, additional, Chan, May, additional, Leake, Susan, additional, Karpavicius, Birute, additional, Haynes, Sue, additional, Kukalizch, Kairen, additional, Whitaker, Linda, additional, Jackson, Sharon, additional, Gerry, Edwina, additional, Nolan, Clarissa, additional, Bertram, Chandra, additional, Marsden, Jerry, additional, Elder, David E., additional, Barrett, Jennifer H., additional, and Bishop, D. Timothy, additional

Published
2009
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21. Overseas Sun Exposure, Nevus Counts, and Premature Skin Aging in Young English Women: A Population-Based Survey

Author

dos Santos Silva, Isabel, primary, Higgins, Craig D., additional, Abramsky, Tanya, additional, Swanwick, Maureen A., additional, Frazer, Jacqueline, additional, Whitaker, Linda M., additional, Blanshard, Margaret E., additional, Bradshaw, John, additional, Apps, John M., additional, Timothy Bishop, D., additional, Newton-Bishop, Julia A., additional, and Swerdlow, Anthony J., additional

Published
2009
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22. Prevalence of 9p21 deletions in UK melanoma families

Author

Mistry, Sushila H., primary, Taylor, Claire, additional, Randerson-Moor, Juliette A., additional, Harland, Mark, additional, Turner, Faye, additional, Barrett, Jennifer H., additional, Whitaker, Linda, additional, Jenkins, Robert B., additional, Knowles, Margaret A., additional, Bishop, Julia A. Newton, additional, and Bishop, D. Timothy, additional

Published
2005
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24. Phenotypic and Histopathological Tumor Characteristics According to CDKN2AMutation Status among Affected Members of Melanoma Families

Author

Taylor, Nicholas J., Handorf, Elizabeth A., Mitra, Nandita, Avril, Marie-Françoise, Azizi, Esther, Bergman, Wilma, Bianchi-Scarrà, Giovanna, Bishop, D. Timothy, Bressac-de Paillerets, Brigitte, Calista, Donato, Cannon-Albright, Lisa A., Cuellar, Francisco, Cust, Anne E., Demenais, Florence, Elder, David E., Friedman, Eitan, Gerdes, Anne-Marie, Ghiorzo, Paola, Goldstein, Alisa M., Grazziotin, Thais C., Hansson, Johan, Hayward, Nicholas K., Hocevar, Marko, Höiom, Veronica, Holland, Elizabeth A., Ingvar, Christian, Landi, Maria Teresa, Landman, Gilles, Larre-Borges, Alejandra, Leachman, Sancy A., Mann, Graham J., Nagore, Eduardo, Olsson, Håkan, Palmer, Jane, Perić, Barbara, Pjanova, Dace, Puig, Susana, Schmid, Helen, van der Stoep, Nienke, Tucker, Margaret A., Wadt, Karin A.W., Whitaker, Linda, Yang, Xiaohong R., Newton Bishop, Julia A., Gruis, Nelleke A., and Kanetsky, Peter A.

Published
2016
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25. Original Levels

Author

Whitaker, Linda, primary, Pope, Pauline, additional, Hallett, Renate, additional, Newman, Sue, additional, and Kester, Barbara, additional

Published
1999
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27. Urea and dilatation of the cervix

Author

Droegemueller, William, Chvapil, Milos, Vining, James, Whitaker, Linda, and Christian, C.D.

Abstract

The minimal elasticity of the uterine cervix has been related to its high collagen content. By interfering with cohesive forces that hold the collagen fiber bundle together, it is possible to diminish the physical strength of collagen. Urea has been used in collagen chemistry to dissociate collagen by interfering with hydrophobic linkages and hydrogen bonds. This results in a change of mechanical properties such as a decrease in tensile strength and an increase in elasticity. Basic studies of rat tail tendon demonstrated the additive effects of pH, concentration of urea, and temperature on the mechanical characteristics of collagen fibers. In vitro testing was performed using an injection of 30 per cent urea at pH 4. Serial measurements with a spring gauge instrument showed a reduction in cervical resistance. A cervical injection technique has been developed and toxicity of urea studied.

Published
1978
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31. Greetings from Your Colleagues in the Congressional Papers Round Table.

Author

Whitaker, Linda

Subjects
*ACCESS control of electronic records, *LIBRARIANS, *LIBRARIES
Abstract

The article reports on Cass Hartnett's presentations at the Society of American Archivists meeting. The presentations include rethinking some government documents as records in any format, connecting the rhetoric of libraries as the bastions of democracy and understanding the implication of the Electronic Records Archives (ERA). It states that there are additional resources that may be of interest to government information librarians.

Published
2010

32. A germline deletion of p14[sup ARF] but not CDKN2A in a melanoma-neural system tumour syndrome family.

Author

Randerson-Moor, Juliette A., Harland, Mark, Williams, Sarah, Cuthbert-Heavens, Darren, Sheridan, Eamonn, Aveyard, Joanne, Sibley, Kathryn, Whitaker, Linda, Knowles, Margaret, Newton Bishop, Julia, and Bishop, D. Timothy

Abstract

Investigates the germline deletion of the p14[sup ARF]-specific exon 1beta of the CDKN2A gene in a melanoma-neural cell tumor syndrome. Effect of deletion on the coding or minimal promoter sequences of CDKN2A or CDKN2B genes; Loss of p14[sup ARF] function; Disruption of expression of p16.

Published
2001
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33. Overseas sun exposure, nevus counts, and premature skin aging in young English women: a population-based survey.

Author

Silva Idos S, Higgins CD, Abramsky T, Swanwick MA, Frazer J, Whitaker LM, Blanshard ME, Bradshaw J, Apps JM, Bishop DT, Newton-Bishop JA, and Swerdlow AJ

Subjects
Adolescent, Adult, Aging, England, Female, Humans, Melanoma etiology, Melanoma prevention & control, Middle Aged, Nevus epidemiology, Risk Factors, Skin Neoplasms etiology, Skin Neoplasms prevention & control, Surveys and Questionnaires, Travel, Nevus etiology, Skin Aging, Sunlight
Abstract

A large number of melanocytic nevi is the strongest known risk factor for melanoma in whites, but its relationship to sun exposure overseas among young white women living in temperate climates is unclear. A total of 754 white English women aged 18-46 years were recruited into a cross-sectional study in 1997-2000 to investigate the effect of ultraviolet exposures on numbers of nevi and atypical nevi, and on skin aging as measured by microtopography. Having ever holidayed in hotter countries was associated with a greater age- and phenotype-adjusted mean number of whole-body nevi (percent increase=74; 95% confidence interval: 24, 144; P=0.001), particularly for holidays taken at ages 18-29 years and for counts of the trunk and lower limbs. Having ever lived overseas was not associated with nevus counts, but was inversely associated with number of atypical nevi (P=0.02). Skin aging was not associated with residence or holidays abroad. The association of holidays overseas with an increased nevus count in young white women, which was stronger in the anatomical sites intermittently exposed to sunlight, supports the hypothesis that intermittent sun exposure is of relevance in the etiology of nevi and, hence, melanoma. The findings are of public health relevance given the growing popularity of foreign holidays.

Published
2009
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34. High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL.

Author

Goldstein AM, Chan M, Harland M, Gillanders EM, Hayward NK, Avril MF, Azizi E, Bianchi-Scarra G, Bishop DT, Bressac-de Paillerets B, Bruno W, Calista D, Cannon Albright LA, Demenais F, Elder DE, Ghiorzo P, Gruis NA, Hansson J, Hogg D, Holland EA, Kanetsky PA, Kefford RF, Landi MT, Lang J, Leachman SA, Mackie RM, Magnusson V, Mann GJ, Niendorf K, Newton Bishop J, Palmer JM, Puig S, Puig-Butille JA, de Snoo FA, Stark M, Tsao H, Tucker MA, Whitaker L, and Yakobson E

Subjects
Adult, Age Factors, Amino Acid Sequence, Animals, Genes, p16, Genetic Predisposition to Disease, Humans, Middle Aged, Molecular Sequence Data, Mutation, Missense, Sequence Alignment, Sequence Homology, Amino Acid, Melanoma genetics, Neoplasms, Nerve Tissue genetics, Pancreatic Neoplasms genetics, Skin Neoplasms genetics, Uveal Neoplasms genetics
Abstract

GenoMEL, comprising major familial melanoma research groups from North America, Europe, Asia, and Australia has created the largest familial melanoma sample yet available to characterize mutations in the high-risk melanoma susceptibility genes CDKN2A/alternate reading frames (ARF), which encodes p16 and p14ARF, and CDK4 and to evaluate their relationship with pancreatic cancer (PC), neural system tumors (NST), and uveal melanoma (UM). This study included 466 families (2,137 patients) with at least three melanoma patients from 17 GenoMEL centers. Overall, 41% (n = 190) of families had mutations; most involved p16 (n = 178). Mutations in CDK4 (n = 5) and ARF (n = 7) occurred at similar frequencies (2-3%). There were striking differences in mutations across geographic locales. The proportion of families with the most frequent founder mutation(s) of each locale differed significantly across the seven regions (P = 0.0009). Single founder CDKN2A mutations were predominant in Sweden (p.R112&#95;L113insR, 92% of family's mutations) and the Netherlands (c.225&#95;243del19, 90% of family's mutations). France, Spain, and Italy had the same most frequent mutation (p.G101W). Similarly, Australia and United Kingdom had the same most common mutations (p.M53I, c.IVS2-105A>G, p.R24P, and p.L32P). As reported previously, there was a strong association between PC and CDKN2A mutations (P < 0.0001). This relationship differed by mutation. In contrast, there was little evidence for an association between CDKN2A mutations and NST (P = 0.52) or UM (P = 0.25). There was a marginally significant association between NST and ARF (P = 0.05). However, this particular evaluation had low power and requires confirmation. This GenoMEL study provides the most extensive characterization of mutations in high-risk melanoma susceptibility genes in families with three or more melanoma patients yet available.

Published
2006
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