New Breast, Ovarian & Pancreatic Cancer Genetic Test Guidelines

NCCN Clinical Practice Guidelines in Oncology for Genetic/Familial High-Risk Assessment
dna strand under lights

The National Comprehensive Cancer Network (NCCN) announced updated evidence-based recommendations for genetic testing in breast, ovarian, and pancreatic cancers.

Published on December 4, 2019, these new recommendations from the NCCN simplify the search for relevant genetic tests.

Cancer patients can now search by disease and syndrome type, and also state and clarifies which test results may influence the selection of therapy.

This NCCN update includes more information about specific genes associated with pancreatic cancer.

These NCCN Guidelines are currently available as Version 1.2015:

Global Changes

  • “Epithelial” ovarian cancer was replaced by “invasive” ovarian cancer.
  • A new section titled, “Principles of Cancer Risk Assessment and Counseling” (BR/OV-A) was added with a corresponding footnote, “For further details regarding the nuances of genetic counseling and testing, see BR/OV-A.” throughout the Guidelines.
  • A new table was added: “Breast and Ovarian Management Based on Genetic Test Results.” (ADDIT-2)

Breast and Ovarian Cancer Risk Assessment (BR/OV-1)

  • First column,  “An individual with a cancer diagnosis meeting any of the following”
    • The 3rd bullet was modified: “Triple-negative (ER-, PR-, HER2-) breast cancer ≤60 y.”
  • For both the personal and family history columns
    • The 1st bullet was revised: “A known mutation in a breast cancer susceptibility gene within the family”
    • The following bullet was revised: “The following bullet was revised, ≥1 family member on same side of family with a combination of breast cancer and ≥1 of the following Personal and/or family history of three or more of the following (especially if early onset): pancreatic cancer, prostate cancer (Gleason score ≥7); sarcoma, adrenocortical carcinoma, brain tumors, endometrial cancer, leukemia/lymphoma; thyroid cancer, kidney cancer, dermatologic manifestations and/or macrocephaly, hamartomatous polyps of GI tract; diffuse gastric cancer (can include multiple primaries in same individual).”

Hereditary Breast and/or Ovarian Cancer Syndrome

  • Testing Criteria (HBOC-1)
    • The 1st bullet was revised: “Individual from a family with a known deleterious BRCA1/BRCA2 mutation or other cancer susceptibility gene.” A similar bullet was added to LIFR-A and COWD-A.
    • The following bullets regarding prostate and pancreatic cancer were separated and revised: 5th bullet was revised: “Personal history of prostate cancer (Gleason score ≥7) at any age with ≥2 1 close blood relative with breast (≤50 y) and/or invasive ovarian and/or pancreatic or prostate cancer (Gleason score ≥7) at any age.” The 6th bullet was revised: “Personal history of pancreatic cancer at any age with ≥1 close blood relative with breast (≤50 y) and/or invasive ovarian and/or pancreatic cancer at any age.” The 7th bullet was revised: “Personal history of pancreatic cancer, and Ashkenazi Jewish ancestry only one additional affected relative is needed.”
  • HBOC Management for Women (HBOC-A 1 of 2)
    • For the 3rd bullet regarding breast screening, a new sub-bullet was added: “For women with a BRCA mutation who are treated for breast cancer, screening of remaining breast tissue with annual mammography and breast MRI should continue.”
    • The 5th bullet was revised: “Recommend risk-reducing salpingo-oophorectomy (ideally in consultation with a gynecologist oncologist), typically between 35 and 40 y, and upon completion of childbearing, 
    • See Risk-Reducing Salpingo-Oophorectomy (RRSO) Protocol in NCCN Guidelines for Ovarian Cancer- Principles of Surgery.”
    • A new sub-bullet was added: “Salpingectomy is not the standard of care and is discouraged outside a clinical trial. The concern for risk-reducing salpingectomy alone is that women are still at risk of developing ovarian cancer. In addition, in premenopausal women, oophorectomy reduces the risk of developing breast cancer by 50%.”
    • The 7th bullet was revised: “For those patients who have not elected risk-reducing salpingo-oophorectomy, while there may be circumstances where clinicians find screening helpful, data do not support routine ovarian screening. Transvaginal ultrasound for ovarian cancer has not been shown to be sufficiently sensitive or specific as to support a positive recommendation, but may be considered at the clinician’s discretion starting at age 30–35 y. Serum CA-125 is an additional ovarian screening test with caveats similar to transvaginal ultrasound.”
  • HBOC Management for Men (HBOC-A 2 of 2)
    • The 2nd bullet was revised: “Clinical breast exam, every 6–12 mo, starting at age 35 y.”
    • The following bullet was removed: “Consider baseline mammogram at age 40 y; annual mammogram if gynecomastia or parenchymal/glandular breast density on baseline study.”

Li-Fraumeni Syndrome

  • Other cancer risks (LIFR-A 1 of 2)
    • The 4th bullet was modified: “Consider colonoscopy every 2–5 y starting no later than at 25 y or 5 y before the earliest known colon cancer in the family (whichever comes first).”
    • The following bullet was removed: “Discuss the option to participate in novel screening approaches using technologies, such as whole-body MRI, abdominal ultrasound, and brain MRI,” and replaced with two bullets: Perform annual whole-body MRI (rapid non-contrast exams per ACRIN model). The brain may be examined as part of a whole-body MRI or as a separate exam.
    • The 6th bullet was added: “Perform annual dermatologic examination.”

Cowden Syndrome/PTEN Hamartoma Tumor Syndrome

  • Cowden syndrome management for women (COWD-A) - Breast Screening - 2nd sub-bullet was added: “Age >75 y, management should be considered on an individual basis.”
  • Cowden syndrome management for men and women (COWD-A) - The 2nd bullet was modified: “Annual thyroid ultrasound starting at the time of PHTS diagnosis age 18 y or 5–10 y before the earliest known thyroid cancer in the family, whichever is earlier.” The 3rd bullet was revised: “Colonoscopy, starting at age 35 y unless symptomatic or close relative with colon cancer under age 40 y. Colonoscopy should be done every 5 y or more frequently if the patient is symptomatic or polyps found.”
  • Multi-Gene Testing (GENE-1) - This section was extensively revised and text will be included in the corresponding discussion.

For the complete updated versions of the NCCN Guidelines, the NCCN Drug & Biologics Compendium (NCCN Compendium®), and the NCCN Chemotherapy Order Templates (NCCN Templates®), please visit National Comprehensive Cancer Network.

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