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Article ; Online: Patient values in healthcare decision making among diverse older adults.

Kurasz, Andrea M / Smith, Glenn E / Curiel, Rosie E / Barker, Warren W / Behar, Raquel C / Ramirez, Alexandra / Armstrong, Melissa J

Patient education and counseling

2021 Volume 105, Issue 5, Page(s) 1115–1122

Abstract: Objective: To provide high-quality healthcare, it is essential to understand values that guide the healthcare decisions of older adults. We investigated the types of values that culturally diverse older adults incorporate in medical decision making.: ... ...

Abstract	Objective: To provide high-quality healthcare, it is essential to understand values that guide the healthcare decisions of older adults. We investigated the types of values that culturally diverse older adults incorporate in medical decision making. Methods: Focus groups were held with older adults who varied in cognitive status (mildly impaired versus those with normal cognition) and ethnicity (Hispanic and non-Hispanic). Investigators used a qualitative descriptive approach to analyze transcripts and identify themes. Results: Forty-nine individuals (49% with cognitive impairment; 51% Hispanic) participated. Participants expressed a wide range of values relating to individual factors, familial/cultural beliefs and expectations, balancing risks and benefits, receiving decisional support, and considering values other than their own. Participants emphasized that values are individual-specific, influenced by aging, and change throughout life course. Participants described barriers and facilitators that interfere with or promote value solicitation and incorporation during medical encounters. Conclusion: Study findings highlight that in older adults with various health experiences, cognitive and physical health status, and sociocultural backgrounds, medical decisions are influenced by a variety of values. Practical implications: Clinicians should take time to elicit, understand, and reassess the different types of values of older adults.
MeSH term(s)	Aged ; Cognition ; Decision Making ; Delivery of Health Care ; Focus Groups ; Hispanic or Latino ; Humans ; Qualitative Research
Language	English
Publishing date	2021-08-28
Publishing country	Ireland
Document type	Journal Article ; Research Support, N.I.H., Extramural
ZDB-ID	605590-4
ISSN	1873-5134 ; 0738-3991
ISSN (online)	1873-5134
ISSN	0738-3991
DOI	10.1016/j.pec.2021.08.031
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Article: Comprehensive Assessment of

Walker, Logan C / Lattimore, Vanessa Lilian / Kvist, Anders / Kleiblova, Petra / Zemankova, Petra / de Jong, Lucy / Wiggins, George A R / Hakkaart, Christopher / Cree, Simone L / Behar, Raquel / Houdayer, Claude / Parsons, Michael T / Kennedy, Martin A / Spurdle, Amanda B / de la Hoya, Miguel

Frontiers in genetics

2019 Volume 10, Page(s) 1139

Abstract: Introduction: ...

Abstract	Introduction:
Language	English
Publishing date	2019-11-19
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2606823-0
ISSN	1664-8021
ISSN	1664-8021
DOI	10.3389/fgene.2019.01139
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Article ; Online: Utility of Plasma Neurofilament Light in the 1Florida Alzheimer's Disease Research Center (ADRC).

Journal of Alzheimer's disease : JAD

2020 Volume 79, Issue 1, Page(s) 59–70

Abstract: Background: Plasma NfL (pNfL) levels are elevated in many neurological disorders. However, the utility of pNfL in a clinical setting has not been established.: Objective: In a cohort of diverse older participants, we examined: 1) the association of ... ...

Abstract	Background: Plasma NfL (pNfL) levels are elevated in many neurological disorders. However, the utility of pNfL in a clinical setting has not been established. Objective: In a cohort of diverse older participants, we examined: 1) the association of pNfL to age, sex, Hispanic ethnicity, diagnosis, and structural and amyloid imaging biomarkers; and 2) its association to baseline and longitudinal cognitive and functional performance. Methods: 309 subjects were classified at baseline as cognitively normal (CN) or with cognitive impairment. Most subjects had structural MRI and amyloid PET scans. The most frequent etiological diagnosis was Alzheimer's disease (AD), but other neurological and neuropsychiatric disorders were also represented. We assessed the relationship of pNfL to cognitive and functional status, primary etiology, imaging biomarkers, and to cognitive and functional decline. Results: pNfL increased with age, degree of hippocampal atrophy, and amyloid load, and was higher in females among CN subjects, but was not associated with Hispanic ethnicity. Compared to CN subjects, pNfL was elevated among those with AD or FTLD, but not those with neuropsychiatric or other disorders. Hippocampal atrophy, amyloid positivity and higher pNfL levels each added unique variance in predicting greater functional impairment on the CDR-SB at baseline. Higher baseline pNfL levels also predicted greater cognitive and functional decline after accounting for hippocampal atrophy and memory scores at baseline. Conclusion: pNfL may have a complementary and supportive role to brain imaging and cognitive testing in a memory disorder evaluation, although its diagnostic sensitivity and specificity as a stand-alone measure is modest. In the absence of expensive neuroimaging tests, pNfL could be used for differentiating neurodegenerative disease from neuropsychiatric disorders.
MeSH term(s)	African Americans ; Age Factors ; Aged ; Aged, 80 and over ; Alzheimer Disease/blood ; Alzheimer Disease/diagnostic imaging ; Alzheimer Disease/physiopathology ; Amyloid beta-Peptides/metabolism ; Atrophy ; Brain/diagnostic imaging ; Brain/metabolism ; Brain/pathology ; Cognition ; Cognitive Dysfunction/blood ; Cognitive Dysfunction/diagnostic imaging ; Cognitive Dysfunction/physiopathology ; Cohort Studies ; Dementia, Vascular/blood ; Dementia, Vascular/diagnostic imaging ; Dementia, Vascular/physiopathology ; Female ; Frontotemporal Lobar Degeneration/blood ; Frontotemporal Lobar Degeneration/diagnostic imaging ; Frontotemporal Lobar Degeneration/physiopathology ; Functional Status ; Hippocampus/diagnostic imaging ; Hippocampus/pathology ; Hispanic or Latino ; Humans ; Lewy Body Disease/blood ; Lewy Body Disease/diagnostic imaging ; Lewy Body Disease/physiopathology ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Neurofilament Proteins/blood ; Positron-Emission Tomography ; Sex Factors ; Whites
Chemical Substances	Amyloid beta-Peptides ; Neurofilament Proteins ; neurofilament protein L
Language	English
Publishing date	2020-11-20
Publishing country	Netherlands
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	1440127-7
ISSN	1875-8908 ; 1387-2877
ISSN (online)	1875-8908
ISSN	1387-2877
DOI	10.3233/JAD-200901
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Article: Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?

Frontiers in genetics

2018 Volume 9, Page(s) 366

Abstract: ... In ... ...

Abstract	In silico
Language	English
Publishing date	2018-09-05
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2606823-0
ISSN	1664-8021
ISSN	1664-8021
DOI	10.3389/fgene.2018.00366
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Article ; Online: Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report.

Lopez-Perolio, Irene / Leman, Raphaël / Behar, Raquel / Lattimore, Vanessa / Pearson, John F / Castéra, Laurent / Martins, Alexandra / Vaur, Dominique / Goardon, Nicolas / Davy, Grégoire / Garre, Pilar / García-Barberán, Vanesa / Llovet, Patricia / Pérez-Segura, Pedro / Díaz-Rubio, Eduardo / Caldés, Trinidad / Hruska, Kathleen S / Hsuan, Vickie / Wu, Sitao /

Pesaran, Tina / Karam, Rachid / Vallon-Christersson, Johan / Borg, Ake / Valenzuela-Palomo, Alberto / Velasco, Eladio A / Southey, Melissa / Vreeswijk, Maaike P G / Devilee, Peter / Kvist, Anders / Spurdle, Amanda B / Walker, Logan C / Krieger, Sophie / de la Hoya, Miguel

Journal of medical genetics

2019 Volume 56, Issue 7, Page(s) 453–460

Abstract: Background: PALB2: Methods: Alternative splicing was characterised in RNAs extracted from blood, breast and : Results: We identified 88 naturally occurring alternative splicing events (81 newly described), including 4 in-frame events predicted ... ...

Abstract	Background: PALB2 Methods: Alternative splicing was characterised in RNAs extracted from blood, breast and Results: We identified 88 naturally occurring alternative splicing events (81 newly described), including 4 in-frame events predicted relevant to evaluate PVS1 status of splice site variants. We did not identify tissue-specific alternate gene transcripts in breast or ovarian-related samples, supporting the clinical relevance of blood-based splicing studies. Conclusions: PVS1 is not necessarily warranted for splice site variants targeting four
MeSH term(s)	Alleles ; Alternative Splicing ; Fanconi Anemia Complementation Group N Protein/genetics ; Gene Expression Profiling ; Genetic Association Studies/methods ; Genetic Predisposition to Disease ; Germ-Line Mutation ; Humans ; Mutation ; Neoplasms/diagnosis ; Neoplasms/genetics ; Nonsense Mediated mRNA Decay ; RNA Splice Sites
Chemical Substances	Fanconi Anemia Complementation Group N Protein ; PALB2 protein, human ; RNA Splice Sites
Language	English
Publishing date	2019-03-19
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	220881-7
ISSN	1468-6244 ; 0022-2593
ISSN (online)	1468-6244
ISSN	0022-2593
DOI	10.1136/jmedgenet-2018-105834
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Article ; Online: Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.

de la Hoya, Miguel / Soukarieh, Omar / López-Perolio, Irene / Vega, Ana / Walker, Logan C / van Ierland, Yvette / Baralle, Diana / Santamariña, Marta / Lattimore, Vanessa / Wijnen, Juul / Whiley, Philip / Blanco, Ana / Raponi, Michela / Hauke, Jan / Wappenschmidt, Barbara / Becker, Alexandra / Hansen, Thomas V O / Behar, Raquel / Investigators, KConFaB /

Niederacher, Diether / Arnold, Norbert / Dworniczak, Bernd / Steinemann, Doris / Faust, Ulrike / Rubinstein, Wendy / Hulick, Peter J / Houdayer, Claude / Caputo, Sandrine M / Castera, Laurent / Pesaran, Tina / Chao, Elizabeth / Brewer, Carole / Southey, Melissa C / van Asperen, Christi J / Singer, Christian F / Sullivan, Jan / Poplawski, Nicola / Mai, Phuong / Peto, Julian / Johnson, Nichola / Burwinkel, Barbara / Surowy, Harald / Bojesen, Stig E / Flyger, Henrik / Lindblom, Annika / Margolin, Sara / Chang-Claude, Jenny / Rudolph, Anja / Radice, Paolo / Galastri, Laura / Olson, Janet E / Hallberg, Emily / Giles, Graham G / Milne, Roger L / Andrulis, Irene L / Glendon, Gord / Hall, Per / Czene, Kamila / Blows, Fiona / Shah, Mitul / Wang, Qin / Dennis, Joe / Michailidou, Kyriaki / McGuffog, Lesley / Bolla, Manjeet K / Antoniou, Antonis C / Easton, Douglas F / Couch, Fergus J / Tavtigian, Sean / Vreeswijk, Maaike P / Parsons, Michael / Meeks, Huong D / Martins, Alexandra / Goldgar, David E / Spurdle, Amanda B

Human molecular genetics

2016 Volume 25, Issue 11, Page(s) 2256–2268

Abstract: A recent analysis using family history weighting and co-observation classification modeling indicated that BRCA1 c.594-2A > C (IVS9-2A > C), previously described to cause exon 10 skipping (a truncating alteration), displays characteristics inconsistent ... ...

Abstract	A recent analysis using family history weighting and co-observation classification modeling indicated that BRCA1 c.594-2A > C (IVS9-2A > C), previously described to cause exon 10 skipping (a truncating alteration), displays characteristics inconsistent with those of a high risk pathogenic BRCA1 variant. We used large-scale genetic and clinical resources from the ENIGMA, CIMBA and BCAC consortia to assess pathogenicity of c.594-2A > C. The combined odds for causality considering case-control, segregation and breast tumor pathology information was 3.23 × 10
MeSH term(s)	Adult ; Aged ; Alternative Splicing/genetics ; BRCA1 Protein/genetics ; Breast Neoplasms/genetics ; Breast Neoplasms/pathology ; DNA Mutational Analysis ; Exons/genetics ; Female ; Gene Expression Regulation, Neoplastic ; Humans ; Middle Aged ; Mutation/genetics ; Ovarian Neoplasms/genetics ; Ovarian Neoplasms/pathology ; RNA Splice Sites/genetics ; RNA Splicing/genetics ; Tumor Suppressor Proteins/genetics
Chemical Substances	BRCA1 Protein ; RNA Splice Sites ; Tumor Suppressor Proteins
Language	English
Publishing date	2016-03-23
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural
ZDB-ID	1108742-0
ISSN	1460-2083 ; 0964-6906
ISSN (online)	1460-2083
ISSN	0964-6906
DOI	10.1093/hmg/ddw094
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Article ; Online: The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.

Colombo, Mara / Lòpez-Perolio, Irene / Meeks, Huong D / Caleca, Laura / Parsons, Michael T / Li, Hongyan / De Vecchi, Giovanna / Tudini, Emma / Foglia, Claudia / Mondini, Patrizia / Manoukian, Siranoush / Behar, Raquel / Garcia, Encarna B Gómez / Meindl, Alfons / Montagna, Marco / Niederacher, Dieter / Schmidt, Ane Y / Varesco, Liliana / Wappenschmidt, Barbara /

Bolla, Manjeet K / Dennis, Joe / Michailidou, Kyriaki / Wang, Qin / Aittomäki, Kristiina / Andrulis, Irene L / Anton-Culver, Hoda / Arndt, Volker / Beckmann, Matthias W / Beeghly-Fadel, Alicia / Benitez, Javier / Boeckx, Bram / Bogdanova, Natalia V / Bojesen, Stig E / Bonanni, Bernardo / Brauch, Hiltrud / Brenner, Hermann / Burwinkel, Barbara / Chang-Claude, Jenny / Conroy, Don M / Couch, Fergus J / Cox, Angela / Cross, Simon S / Czene, Kamila / Devilee, Peter / Dörk, Thilo / Eriksson, Mikael / Fasching, Peter A / Figueroa, Jonine / Fletcher, Olivia / Flyger, Henrik / Gabrielson, Marike / García-Closas, Montserrat / Giles, Graham G / González-Neira, Anna / Guénel, Pascal / Haiman, Christopher A / Hall, Per / Hamann, Ute / Hartman, Mikael / Hauke, Jan / Hollestelle, Antoinette / Hopper, John L / Jakubowska, Anna / Jung, Audrey / Kosma, Veli-Matti / Lambrechts, Diether / Le Marchand, Loid / Lindblom, Annika / Lubinski, Jan / Mannermaa, Arto / Margolin, Sara / Miao, Hui / Milne, Roger L / Neuhausen, Susan L / Nevanlinna, Heli / Olson, Janet E / Peterlongo, Paolo / Peto, Julian / Pylkäs, Katri / Sawyer, Elinor J / Schmidt, Marjanka K / Schmutzler, Rita K / Schneeweiss, Andreas / Schoemaker, Minouk J / See, Mee Hoong / Southey, Melissa C / Swerdlow, Anthony / Teo, Soo H / Toland, Amanda E / Tomlinson, Ian / Truong, Thérèse / van Asperen, Christi J / van den Ouweland, Ans M W / van der Kolk, Lizet E / Winqvist, Robert / Yannoukakos, Drakoulis / Zheng, Wei / Dunning, Alison M / Easton, Douglas F / Henderson, Alex / Hogervorst, Frans B L / Izatt, Louise / Offitt, Kenneth / Side, Lucy E / van Rensburg, Elizabeth J / Embrace, Study / Hebon, Study / McGuffog, Lesley / Antoniou, Antonis C / Chenevix-Trench, Georgia / Spurdle, Amanda B / Goldgar, David E / Hoya, Miguel de la / Radice, Paolo

Human mutation

2018 Volume 39, Issue 5, Page(s) 729–741

Abstract: Although the spliceogenic nature of the BRCA2 c.68-7T > A variant has been demonstrated, its association with cancer risk remains controversial. In this study, we accurately quantified by real-time PCR and digital PCR (dPCR), the BRCA2 isoforms retaining ...

Abstract	Although the spliceogenic nature of the BRCA2 c.68-7T > A variant has been demonstrated, its association with cancer risk remains controversial. In this study, we accurately quantified by real-time PCR and digital PCR (dPCR), the BRCA2 isoforms retaining or missing exon 3. In addition, the combined odds ratio for causality of the variant was estimated using genetic and clinical data, and its associated cancer risk was estimated by case-control analysis in 83,636 individuals. Co-occurrence in trans with pathogenic BRCA2 variants was assessed in 5,382 families. Exon 3 exclusion rate was 4.5-fold higher in variant carriers (13%) than controls (3%), indicating an exclusion rate for the c.68-7T > A allele of approximately 20%. The posterior probability of pathogenicity was 7.44 × 10
MeSH term(s)	BRCA2 Protein/genetics ; BRCA2 Protein/metabolism ; Base Sequence ; Calibration ; Cell Line ; Exons/genetics ; Female ; Genetic Predisposition to Disease ; Genetic Variation ; Humans ; Mitomycin/pharmacology ; Models, Genetic ; RNA Splicing/genetics ; RNA, Messenger/genetics ; RNA, Messenger/metabolism
Chemical Substances	BRCA2 Protein ; BRCA2 protein, human ; RNA, Messenger ; Mitomycin (50SG953SK6)
Language	English
Publishing date	2018-04-06
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1126646-6
ISSN	1098-1004 ; 1059-7794
ISSN (online)	1098-1004
ISSN	1059-7794
DOI	10.1002/humu.23411
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Article ; Online: Patient values in healthcare decision making among diverse older adults.

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Article: Comprehensive Assessment of

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Article ; Online: Utility of Plasma Neurofilament Light in the 1Florida Alzheimer's Disease Research Center (ADRC).

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Article: Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?

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Article ; Online: Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report.

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Article ; Online: Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.

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Article ; Online: The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.

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