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Article ; Online: Cancer in myotonic dystrophy: A new discovery in an old disease.

Gadalla, Shahinaz M / Greene, Mark H

2023 Volume 68, Issue 2, Page(s) 101–102

MeSH term(s)	Humans ; Myotonic Dystrophy/complications ; Neoplasms
Language	English
Publishing date	2023-05-24
Publishing country	United States
Document type	Editorial ; Research Support, N.I.H., Intramural ; Comment
ZDB-ID	438353-9
ISSN	1097-4598 ; 0148-639X
ISSN (online)	1097-4598
ISSN	0148-639X
DOI	10.1002/mus.27844
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Zs.A 1449: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG)
Zs.MO 551: Show issues

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Article ; Online: Familial TGCT: polygenic aetiology advanced.

Greene, Mark H / Pfeiffer, Ruth M

Nature reviews. Urology

2018 Volume 15, Issue 11, Page(s) 665–666

Language	English
Publishing date	2018-09-24
Publishing country	England
Document type	Journal Article
ZDB-ID	2493737-X
ISSN	1759-4820 ; 1759-4812
ISSN (online)	1759-4820
ISSN	1759-4812
DOI	10.1038/s41585-018-0093-y
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Zs.A 6030: Show issues

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Article ; Online: Testing Positive on a Multigene Panel Does Not Suffice to Determine Disease Risks.

Katki, Hormuzd A / Greene, Mark H / Achatz, Maria Isabel

Journal of the National Cancer Institute

2018 Volume 110, Issue 8, Page(s) 797–798

MeSH term(s)	Genetic Testing ; Mutation ; Phenotype
Language	English
Publishing date	2018-03-12
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Intramural ; Comment
ZDB-ID	2992-0
ISSN	1460-2105 ; 0027-8874 ; 0198-0157
ISSN (online)	1460-2105
ISSN	0027-8874 ; 0198-0157
DOI	10.1093/jnci/djy008
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Article ; Online: The fallopian tube: from back stage to center stage.

Greene, Mark H / Mai, Phuong L

Cancer prevention research (Philadelphia, Pa.)

2015 Volume 8, Issue 5, Page(s) 339–341

Abstract: The recognition that a significant fraction of what historically has been classified as ovarian cancer is, in fact, a malignancy that arises in the fallopian tube mucosa comprises a paradigm shift in our understanding of these neoplasms. New etiologic ... ...

Abstract	The recognition that a significant fraction of what historically has been classified as ovarian cancer is, in fact, a malignancy that arises in the fallopian tube mucosa comprises a paradigm shift in our understanding of these neoplasms. New etiologic and management opportunities have been created by this insight, both for women at increased genetic risk of ovarian cancer by virtue of being BRCA1/2 mutation carriers and, perhaps, for women in the general population as well.
MeSH term(s)	Female ; Humans ; Neoplasms, Glandular and Epithelial/prevention & control ; Ovarian Neoplasms/prevention & control ; Prophylactic Surgical Procedures ; Salpingectomy/statistics & numerical data
Language	English
Publishing date	2015-03-23
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Intramural ; Comment
ZDB-ID	2434717-6
ISSN	1940-6215 ; 1940-6207
ISSN (online)	1940-6215
ISSN	1940-6207
DOI	10.1158/1940-6207.CAPR-15-0072
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Zs.A 6766: Show issues

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Article ; Online: Embodied risk for families with Li-Fraumeni syndrome: Like electricity through my body.

Werner-Lin, Allison / Forbes Shepherd, Rowan / Young, Jennifer L / Wilsnack, Catherine / Merrill, Shana L / Greene, Mark H / Khincha, Payal P

Social science & medicine (1982)

2022 Volume 301, Page(s) 114905

Abstract: Introduction: Experiences of illness change the physical body and embodiments, or the ways in which the world and the self are known through the body. When illness is anticipated, such as with inherited cancer predisposition syndromes, risk becomes ... ...

Abstract	Introduction: Experiences of illness change the physical body and embodiments, or the ways in which the world and the self are known through the body. When illness is anticipated, such as with inherited cancer predisposition syndromes, risk becomes embodied and shared in family groups. Embodied risk is experienced whether or not symptoms have manifested. To examine how individuals and families with genetic risk experience the world and understand their disease through their bodies, we employ Li-Fraumeni syndrome (LFS) as an exemplar. LFS is a rare, genetic, cancer predisposition syndrome with nearly 100% lifetime cancer risk starting from birth, limited opportunities for prevention, rigorous screening protocols, and early mortality. Methods: Forty-five families, including 117 individuals aged 13-81 years, enrolled in the National Cancer Insitute's LFS study (NCT01443468) completed 66 open-ended interviews regarding LFS experiences. An interdisciplinary team used modified grounded theory to explore physical aspects of living with LFS in psychosocial contexts. Findings: The physicality of living with LFS included constant monitoring of LFS bodies across the family to identify physical change that might indicate carcinogenesis. Cancer screening, risk reduction, and treatment acted as dually protective and invasive, and as an unavoidable features of LFS. Connections between family members with similar embodiments normalized aesthetic changes and supported coping with visible markers of difference. In some circumstances, participants objectified the body to preserve the self and important relationships. In others, intense pain or loss created thresholds beyond which the self could no longer be separated from the body to support coping. Discussion: This paper focuses on Li-Fraumeni syndrome, a familial condition with a well-established genetic identity in which the body-self is experienced in relation to important others, to medical imaging, and to historical experiences with cancer. We expand on theories of embodied risk and inter-embodiment to describe experiences across disease trajectories, with attention to division and union between body, self, and other.
MeSH term(s)	Early Detection of Cancer ; Electricity ; Family ; Genetic Predisposition to Disease ; Humans ; Li-Fraumeni Syndrome/complications ; Li-Fraumeni Syndrome/diagnosis ; Li-Fraumeni Syndrome/genetics
Language	English
Publishing date	2022-03-17
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Intramural
ZDB-ID	4766-1
ISSN	1873-5347 ; 0037-7856 ; 0277-9536
ISSN (online)	1873-5347
ISSN	0037-7856 ; 0277-9536
DOI	10.1016/j.socscimed.2022.114905
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Zs.A 625: Show issues

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Article: Anticipatory loss and early mastectomy for young female BRCA1/2 mutation carriers.

Hoskins, Lindsey M / Greene, Mark H

Qualitative health research

2012 Volume 22, Issue 12, Page(s) 1633–1646

Abstract: Young women who carry BRCA1/2 mutations face difficult decisions in managing their hereditary breast/ovarian cancer risk. Through this National Cancer Institute study, we sought to understand the process by which some young women choose risk-reducing ... ...

Abstract	Young women who carry BRCA1/2 mutations face difficult decisions in managing their hereditary breast/ovarian cancer risk. Through this National Cancer Institute study, we sought to understand the process by which some young women choose risk-reducing bilateral mastectomy (RRBM) instead of alternative risk-management options. Data indicate that electing to undergo RRBM, although difficult, is experienced as a way to sidestep potentially devastating outcomes, such as stressful and costly high-risk screening, chemotherapy or radiation, or putting loved ones through the challenges of a cancer diagnosis. The decision to pursue RRBM is often the product of screening fatigue, encouragement from loved ones, and/or a sense of urgency to put one's high-risk period behind one. By understanding how young carriers make decisions about surgical risk reduction, providers can better guide, counsel, and support patients in the important tasks surrounding this life-changing medical decision, thereby helping to increase the duration and quality of their lives.
MeSH term(s)	Adult ; Breast Neoplasms/genetics ; Breast Neoplasms/prevention & control ; Breast Neoplasms/psychology ; Decision Making ; Female ; Genes, BRCA1 ; Genes, BRCA2 ; Genetic Predisposition to Disease ; Humans ; Interviews as Topic ; Mastectomy ; Mutation ; Risk Reduction Behavior
Language	English
Publishing date	2012-12
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, N.I.H., Intramural
ZDB-ID	1275716-0
ISSN	1552-7557 ; 1049-7323
ISSN (online)	1552-7557
ISSN	1049-7323
DOI	10.1177/1049732312458182
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Zs.A 4632: Show issues

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Article ; Online: Waiting and "weighted down": the challenge of anticipatory loss for individuals and families with Li-Fraumeni Syndrome.

Werner-Lin, Allison / Young, Jennifer L / Wilsnack, Catherine / Merrill, Shana L / Groner, Victoria / Greene, Mark H / Khincha, Payal P

Familial cancer

2020 Volume 19, Issue 3, Page(s) 259–268

Abstract: Li-Fraumeni Syndrome (LFS) is characterized by risk of multiple primary malignancies in diverse sites, pediatric onset, near complete penetrance by age 70 years, limited options for prevention, and substantial uncertainty regarding disease manifestation ... ...

Abstract	Li-Fraumeni Syndrome (LFS) is characterized by risk of multiple primary malignancies in diverse sites, pediatric onset, near complete penetrance by age 70 years, limited options for prevention, and substantial uncertainty regarding disease manifestation and prognosis. Forty-five families, including 117 individuals aged 13-81 years, enrolled in the US National Cancer Institute's Li-Fraumeni Syndrome Study completed 66 interviews regarding their LFS experiences. An interdisciplinary team used modified grounded theory to examine family distress regarding expectations of loss and change due to likely cancer diagnoses, and the consequences of this likelihood across physical, social, and emotional domains. Disease-free periods were characterized by fearful anticipation of diagnosis or recurrence, uncertainty regarding post-treatment quality of life, and planning for shifts in family dynamics to enable caregiving. The chronicity of waiting for these changes incited dread and inhibited effective coping with the pragmatic, emotional, and existential challenges of the syndrome. Consequently, families reported high burden on roles and resources and limited guidance to prepare for, or achieve resolution with, grief. Anticipatory loss, the experience of bereavement prior to an expected change, distinguishes hereditary cancer risk from a sporadic diagnosis. Such grief is often incomplete in impact or meaning, subjected to rapid or profound change as conditions worsen, and poorly understood. In this study, losses were compounded by profound uncertainty, a chronic feature of LFS, which compromised mourning. Long-term engagement of mental health providers with bereavement training, in partnership with genetics providers, can provide invaluable educational and psychological support to families as they navigate these implacable challenges.
MeSH term(s)	Adolescent ; Adult ; Aged ; Aged, 80 and over ; Anticipation, Psychological ; Bereavement ; Child ; Child, Preschool ; Data Analysis ; Early Detection of Cancer ; Family ; Female ; Genes, p53 ; Genetic Counseling ; Grief ; Grounded Theory ; Hope ; Humans ; Li-Fraumeni Syndrome/diagnosis ; Li-Fraumeni Syndrome/genetics ; Li-Fraumeni Syndrome/psychology ; Male ; Middle Aged ; Mutation ; Prognosis ; Psychological Distress ; Psychosocial Support Systems ; Qualitative Research ; Quality of Life ; Uncertainty ; Young Adult
Language	English
Publishing date	2020-03-27
Publishing country	Netherlands
Document type	Journal Article ; Research Support, N.I.H., Extramural
ZDB-ID	1502496-9
ISSN	1573-7292 ; 1389-9600
ISSN (online)	1573-7292
ISSN	1389-9600
DOI	10.1007/s10689-020-00173-6
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Zs.A 6099: Show issues

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Article ; Online: A major step forward for BRCA1/2-related cancer risk management.

Mai, Phuong L / Loud, Jennifer T / Greene, Mark H

Journal of clinical oncology : official journal of the American Society of Clinical Oncology

2014 Volume 32, Issue 15, Page(s) 1531–1533

MeSH term(s)	BRCA1 Protein/genetics ; BRCA2 Protein/genetics ; Fallopian Tube Neoplasms ; Female ; Humans ; Incidence ; Mutation ; Ovarian Neoplasms ; Ovariectomy/mortality
Chemical Substances	BRCA1 Protein ; BRCA1 protein, human ; BRCA2 Protein ; BRCA2 protein, human
Language	English
Publishing date	2014-05-20
Publishing country	United States
Document type	Comment ; Editorial
ZDB-ID	604914-x
ISSN	1527-7755 ; 0732-183X
ISSN (online)	1527-7755
ISSN	0732-183X
DOI	10.1200/JCO.2013.54.8925
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Zs.A 1847: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG)
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Article ; Online: In their own words: treating very young BRCA1/2 mutation-positive women with care and caution.

Hoskins, Lindsey M / Werner-Lin, Allison / Greene, Mark H

PloS one

2014 Volume 9, Issue 2, Page(s) e87696

Abstract: Purpose: Young women who have been identified as carrying a deleterious mutation in BRCA1 or BRCA2 face a unique set of challenges related to managing cancer risk during a demographically-dense stage of life. They may struggle with decision-making in ... ...

Abstract	Purpose: Young women who have been identified as carrying a deleterious mutation in BRCA1 or BRCA2 face a unique set of challenges related to managing cancer risk during a demographically-dense stage of life. They may struggle with decision-making in the absence of clear age-specific guidelines for medical management and because they have not yet fully developed the capacity to make life-altering decisions confidently. This study sought a patient-centered perspective on the dilemmas faced by 18-24 year olds who completed BRCA1/2 gene mutation testing prior to their 25(th) birthdays. Patients and method: This study integrated qualitative data from three independent investigations of BRCA1/2-positive women recruited through cancer risk clinics, hospital-based research centers, and online organizations. All 32 participants were women aged 21-25 who tested positive for a BRCA1/2 gene mutation between 2 and 60 months prior to data collection. Investigators used techniques of grounded theory and interpretive description to conduct both within and cross-study analysis. Results: Participants expressed needs for (1) greater clarity in recommendations for screening and prevention before age 25, especially with consideration of early and regular exposure to radiation associated with mammography or to hormones used in birth control, and (2) ongoing contact with providers to discuss risk management protocols as they become available. Conclusions: Health care needs during the young adult years evolve with the cognitive capacity to address abrupt and pressing change. Specific needs of women in this population include a desire to balance autonomous decision-making with supportive guidance, a need for clear, accurate and consistent medical recommendations. Optimally, these women are best cared for by a team of genetically-oriented providers as part of a sustained program of ongoing support, rather than seen in an episodic, crisis-driven fashion. A discussion of insurance issues and provider-patient cultural differences is presented.
MeSH term(s)	Adolescent ; Adult ; BRCA1 Protein/genetics ; BRCA2 Protein/genetics ; Breast Neoplasms/genetics ; Decision Making ; Delivery of Health Care ; Female ; Humans ; Mutation ; Young Adult
Chemical Substances	BRCA1 Protein ; BRCA1 protein, human ; BRCA2 Protein ; BRCA2 protein, human
Language	English
Publishing date	2014-02-28
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Intramural
ZDB-ID	2267670-3
ISSN	1932-6203 ; 1932-6203
ISSN (online)	1932-6203
ISSN	1932-6203
DOI	10.1371/journal.pone.0087696
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Article ; Online: Reply to m.j. Mourits et Al.

Sherman, Mark E / Piedmonte, Marion / Mai, Phuong L / Greene, Mark H

Journal of clinical oncology : official journal of the American Society of Clinical Oncology

2015 Volume 33, Issue 13, Page(s) 1515

MeSH term(s)	Breast Neoplasms/genetics ; Breast Neoplasms/pathology ; Fallopian Tube Neoplasms/pathology ; Female ; Humans ; Neoplasms, Unknown Primary/pathology ; Ovarian Neoplasms/pathology
Language	English
Publishing date	2015-05-01
Publishing country	United States
Document type	Comment ; Letter ; Research Support, Non-U.S. Gov't
ZDB-ID	604914-x
ISSN	1527-7755 ; 0732-183X
ISSN (online)	1527-7755
ISSN	0732-183X
DOI	10.1200/JCO.2014.60.2482
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Zs.A 1847: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG)
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