NCCN Guidelines® Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2024

Mary B. Daly; Tuya Pal; Kara N. Maxwell; Jane Churpek; Wendy Kohlmann; Zahraa AlHilli; Banu Arun; Saundra S. Buys; Heather Cheng; Susan M. Domchek; Susan Friedman; Veda Giri; Michael Goggins; Andrea Hagemann; Ashley Hendrix; Mollie L. Hutton; Beth Y. Karlan; Nawal Kassem; Seema Khan; Katia Khoury; Allison W. Kurian; Christine Laronga; Julie S. Mak; John Mansour; Kevin McDonnell; Carolyn S. Menendez; Sofia D. Merajver; Barbara S. Norquist; Kenneth Offit; Dominique Rash; Gwen Reiser; Leigha Senter-Jamieson; Kristen Mahoney Shannon; Kala Visvanathan; Jeanna Welborn; Myra J. Wick; Marie Wood; Matthew B. Yurgelun; Mary A. Dwyer; Susan D. Darlow

doi:10.6004/jnccn.2023.0051

NCCN Guidelines® Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2024

Mary B. Daly, Tuya Pal, Kara N. Maxwell, Jane Churpek, Wendy Kohlmann, Zahraa AlHilli, Banu Arun, Saundra S. Buys, Heather Cheng, Susan M. Domchek, Susan Friedman, Veda Giri, Michael Goggins, Andrea Hagemann, Ashley Hendrix, Mollie L. Hutton, Beth Y. Karlan, Nawal Kassem, Seema Khan, Katia KhouryAllison W. Kurian, Christine Laronga, Julie S. Mak, John Mansour, Kevin McDonnell, Carolyn S. Menendez, Sofia D. Merajver, Barbara S. Norquist, Kenneth Offit, Dominique Rash, Gwen Reiser, Leigha Senter-Jamieson, Kristen Mahoney Shannon, Kala Visvanathan, Jeanna Welborn, Myra J. Wick, Marie Wood, Matthew B. Yurgelun, Mary A. Dwyer, Susan D. Darlow

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49 Scopus citations

Abstract

The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic focus primarily on assessment of pathogenic/ likely pathogenic (P/LP) variants associated with increased risk of breast, ovarian, pancreatic, and prostate cancer, including BRCA1, BRCA2, CDH1, PALB2, PTEN, and TP53, and recommended approaches to genetic counseling/testing and care strategies in individuals with these P/LP variants. These NCCN Guidelines Insights summarize important updates regarding: (1) a new section for transgender, nonbinary and gender diverse people who have a hereditary predisposition to cancer focused on risk reduction strategies for ovarian cancer, uterine cancer, prostate cancer, and breast cancer; and (2) testing criteria and management associated with TP53 P/LP variants and Li-Fraumeni syndrome.

Original language	English
Pages (from-to)	1000-1010
Number of pages	11
Journal	Journal of the National Comprehensive Cancer Network : JNCCN
Volume	21
Issue number	10
DOIs	https://doi.org/10.6004/jnccn.2023.0051
State	Published - Oct 2023

Keywords

Breast Neoplasms/diagnosis
Female
Genetic Predisposition to Disease
Genetic Testing
Germ-Line Mutation
Humans
Male
Ovarian Neoplasms/diagnosis
Risk Factors

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10.6004/jnccn.2023.0051

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Daly, M. B., Pal, T., Maxwell, K. N., Churpek, J., Kohlmann, W., AlHilli, Z., Arun, B., Buys, S. S., Cheng, H., Domchek, S. M., Friedman, S., Giri, V., Goggins, M., Hagemann, A., Hendrix, A., Hutton, M. L., Karlan, B. Y., Kassem, N., Khan, S., ... Darlow, S. D. (2023). NCCN Guidelines® Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2024. Journal of the National Comprehensive Cancer Network : JNCCN, 21(10), 1000-1010. https://doi.org/10.6004/jnccn.2023.0051

@article{35b64f8d9a67479fbe65fb0fe760d305,

title = "NCCN Guidelines{\textregistered} Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2024",

abstract = "The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic focus primarily on assessment of pathogenic/ likely pathogenic (P/LP) variants associated with increased risk of breast, ovarian, pancreatic, and prostate cancer, including BRCA1, BRCA2, CDH1, PALB2, PTEN, and TP53, and recommended approaches to genetic counseling/testing and care strategies in individuals with these P/LP variants. These NCCN Guidelines Insights summarize important updates regarding: (1) a new section for transgender, nonbinary and gender diverse people who have a hereditary predisposition to cancer focused on risk reduction strategies for ovarian cancer, uterine cancer, prostate cancer, and breast cancer; and (2) testing criteria and management associated with TP53 P/LP variants and Li-Fraumeni syndrome.",

keywords = "Breast Neoplasms/diagnosis, Female, Genetic Predisposition to Disease, Genetic Testing, Germ-Line Mutation, Humans, Male, Ovarian Neoplasms/diagnosis, Risk Factors",

author = "Daly, {Mary B.} and Tuya Pal and Maxwell, {Kara N.} and Jane Churpek and Wendy Kohlmann and Zahraa AlHilli and Banu Arun and Buys, {Saundra S.} and Heather Cheng and Domchek, {Susan M.} and Susan Friedman and Veda Giri and Michael Goggins and Andrea Hagemann and Ashley Hendrix and Hutton, {Mollie L.} and Karlan, {Beth Y.} and Nawal Kassem and Seema Khan and Katia Khoury and Kurian, {Allison W.} and Christine Laronga and Mak, {Julie S.} and John Mansour and Kevin McDonnell and Menendez, {Carolyn S.} and Merajver, {Sofia D.} and Norquist, {Barbara S.} and Kenneth Offit and Dominique Rash and Gwen Reiser and Leigha Senter-Jamieson and Shannon, {Kristen Mahoney} and Kala Visvanathan and Jeanna Welborn and Wick, {Myra J.} and Marie Wood and Yurgelun, {Matthew B.} and Dwyer, {Mary A.} and Darlow, {Susan D.}",

year = "2023",

month = oct,

doi = "10.6004/jnccn.2023.0051",

language = "English",

volume = "21",

pages = "1000--1010",

journal = "Journal of the National Comprehensive Cancer Network : JNCCN",

issn = "1540-1405",

publisher = "Cold Spring Publishing LLC",

number = "10",

}

Daly, MB, Pal, T, Maxwell, KN, Churpek, J, Kohlmann, W, AlHilli, Z, Arun, B, Buys, SS, Cheng, H, Domchek, SM, Friedman, S, Giri, V, Goggins, M, Hagemann, A, Hendrix, A, Hutton, ML, Karlan, BY, Kassem, N, Khan, S, Khoury, K, Kurian, AW, Laronga, C, Mak, JS, Mansour, J, McDonnell, K, Menendez, CS, Merajver, SD, Norquist, BS, Offit, K, Rash, D, Reiser, G, Senter-Jamieson, L, Shannon, KM, Visvanathan, K, Welborn, J, Wick, MJ, Wood, M, Yurgelun, MB, Dwyer, MA & Darlow, SD 2023, 'NCCN Guidelines® Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2024', Journal of the National Comprehensive Cancer Network : JNCCN, vol. 21, no. 10, pp. 1000-1010. https://doi.org/10.6004/jnccn.2023.0051

TY - JOUR

T1 - NCCN Guidelines® Insights

T2 - Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2024

AU - Daly, Mary B.

AU - Pal, Tuya

AU - Maxwell, Kara N.

AU - Churpek, Jane

AU - Kohlmann, Wendy

AU - AlHilli, Zahraa

AU - Arun, Banu

AU - Buys, Saundra S.

AU - Cheng, Heather

AU - Domchek, Susan M.

AU - Friedman, Susan

AU - Giri, Veda

AU - Goggins, Michael

AU - Hagemann, Andrea

AU - Hendrix, Ashley

AU - Hutton, Mollie L.

AU - Karlan, Beth Y.

AU - Kassem, Nawal

AU - Khan, Seema

AU - Khoury, Katia

AU - Kurian, Allison W.

AU - Laronga, Christine

AU - Mak, Julie S.

AU - Mansour, John

AU - McDonnell, Kevin

AU - Menendez, Carolyn S.

AU - Merajver, Sofia D.

AU - Norquist, Barbara S.

AU - Offit, Kenneth

AU - Rash, Dominique

AU - Reiser, Gwen

AU - Senter-Jamieson, Leigha

AU - Shannon, Kristen Mahoney

AU - Visvanathan, Kala

AU - Welborn, Jeanna

AU - Wick, Myra J.

AU - Wood, Marie

AU - Yurgelun, Matthew B.

AU - Dwyer, Mary A.

AU - Darlow, Susan D.

PY - 2023/10

Y1 - 2023/10

N2 - The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic focus primarily on assessment of pathogenic/ likely pathogenic (P/LP) variants associated with increased risk of breast, ovarian, pancreatic, and prostate cancer, including BRCA1, BRCA2, CDH1, PALB2, PTEN, and TP53, and recommended approaches to genetic counseling/testing and care strategies in individuals with these P/LP variants. These NCCN Guidelines Insights summarize important updates regarding: (1) a new section for transgender, nonbinary and gender diverse people who have a hereditary predisposition to cancer focused on risk reduction strategies for ovarian cancer, uterine cancer, prostate cancer, and breast cancer; and (2) testing criteria and management associated with TP53 P/LP variants and Li-Fraumeni syndrome.

AB - The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic focus primarily on assessment of pathogenic/ likely pathogenic (P/LP) variants associated with increased risk of breast, ovarian, pancreatic, and prostate cancer, including BRCA1, BRCA2, CDH1, PALB2, PTEN, and TP53, and recommended approaches to genetic counseling/testing and care strategies in individuals with these P/LP variants. These NCCN Guidelines Insights summarize important updates regarding: (1) a new section for transgender, nonbinary and gender diverse people who have a hereditary predisposition to cancer focused on risk reduction strategies for ovarian cancer, uterine cancer, prostate cancer, and breast cancer; and (2) testing criteria and management associated with TP53 P/LP variants and Li-Fraumeni syndrome.

KW - Breast Neoplasms/diagnosis

KW - Female

KW - Genetic Predisposition to Disease

KW - Genetic Testing

KW - Germ-Line Mutation

KW - Humans

KW - Male

KW - Ovarian Neoplasms/diagnosis

KW - Risk Factors

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U2 - 10.6004/jnccn.2023.0051

DO - 10.6004/jnccn.2023.0051

M3 - Article

C2 - 37856201

SN - 1540-1405

VL - 21

SP - 1000

EP - 1010

JO - Journal of the National Comprehensive Cancer Network : JNCCN

JF - Journal of the National Comprehensive Cancer Network : JNCCN

IS - 10

ER -

NCCN Guidelines® Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2024

Abstract

Keywords

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