All things Breast + Gyn Flashcards

1
Q

Modifiable Breast Cancer Risks

A

Alcohol use, weight, physical activity, radiation, occupational exposures, environment

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2
Q

Non-modifiable Breast Cancer Risks

A

Being a female, Aging, Ethnicity/Race, Hormones, Certain breast conditions (LCIS, atypical hyperplasia), DNA

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3
Q

Non-cancerous breast findings

A

Cysts, fibroadenomas, hyperplasia, papilloma, calcifications, radial scar, phyllodes tumor, lobular carcinoma in situ, atypical ductal hyperplasia, atypical lobular hyperplasia, flat epithelia atypia

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4
Q

Cancerous breast findings

A

ductal carcinoma in situ, invasive carcinoma (ductal, lobular, tubular, mutinous, medullary. Paget’s disease), phyllodes tumor,
inflammatory breast cancer

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5
Q

what can be both a non-cancerous and cancerous breast finding

A

phyllodes tumor
rare breast tumors that start in the connective (stromal) tissue of the breast, not the ducts or glands (which is where most breast cancers start). Most phyllodes tumors are benign and only a small number are malignant (cancer)

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6
Q

NCCN breast screening guidelines for woman of average risk

A

annual mammogram at 40

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7
Q

Treatments for breast cancer

A

surgery, chemo, radiation, hormonal therapy (tamoxifen), immunotherapy, PARP inhibitors

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8
Q

Modifiable cancer risks

A

obesity, medications, smoking, IUD, environment*

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9
Q

non-modifiable cancer risks

A

aging, being female, heredity, hormonal factors (early menarche, late menopause), chronic conditions, estrogen secreting tumor, infetitily

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10
Q

Non-cancerous gynecologic findings

A

fibroid, polyps, cysts, endometrioma, cystadenoma, teratoma, germ cell tumors, sex cord stromal tumors, endometrial hyperplasia with atypia, endometrial intraepithelial neoplasia, borderline ovarian

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11
Q

Cancerous gynecologic findings

A

epithelial carcinoma, endometrial cancer, germ cell tumors, sex cord stromal tumors

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12
Q

Ways to find gynecologic cancers

A

pelvic exam, pelvic or vaginal US, pelvic MRI, blood testing (CA-125), biopsy

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13
Q

When is routine screening for ovarian cancer performed

A

if there is a strong family history

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14
Q

treatments for GYN cancers

A

surgery (i.e. TAH, BSO), chemo, radiation, progestin

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15
Q

BRCA1 Cancer Risks

A

Breast (40-87)
Ovarian (16-59)
Prostate (16)
Pancreatic (1-3)
Male breast (1-2)

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16
Q

BRCA2 Cancer Risks

A

breast (40-85)
prostate (27)
Ovarian (17-27)
Male breast (7-8)
Pancreatic (increased)
melanoma (increased)

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17
Q

General NCCN testing guidelines

A

individuals with blood relative with known pathogenic variant
patients with limited prior testing and meeting other criteria
mutation identified in somatic tumor testing that has clinical implications
to aid in systemic therapy or surgical decision making
Ashkenazi Jewish ancestry

18
Q

Breast NCCN guidelines by age at dx and FHX

A

less than or equal to 45
46-50 with any unknown or limited FHX, multiple primary breast cancers, more than 1 close blood relative with breast, ovarian, pancreatic or prostate cancer at any age
greater or qual to 51: 1 or more close blood relative with breast cancer dx under 50, or male breast cancer at any age, ovarian cancer at any age, pancreatic cancer at any age, metic histology, 3 or more breast cancer dx in patient or close blood relatives, 2 or more close relatives with either breast or prostate cancer at any age
any age: to aid in systemic treatment for PARP inhibitors in metastatic setting; to aid in treatment of triple negative, lobular breast cancer with FHX of diffuse gastric cancer; male breast cancer

19
Q

NCCN Breast guidelines with only FHX

A

affected individual not meeting criteria, but with 1st or 2nd degree relative that does meet criteria
has greater than 5% probability using probability model

20
Q

Ovarian Cancer NCCN testing guidelines

A

General criteria; personal hx of epithelial ovarian cancer; family hx of 1st or 2nd deg relative with epithelial ovarian cancer at any age; unaffected but greater than 5% in probability model

21
Q

NCCN recommendations for BRCA 1 + 2 carriers BREAST

A

breast: monthly self breast exam, yearly clinical breast exams, mammograms, MRIs, chemoprevention, BL mastectomies
males: self breast exam, clinical breast exam, mammogram

22
Q

NCCN recommendations for BRCA 1 + 2 carriers OVARIES

A

bilateral saplingo-oophorectomy, TV ultrasound, CA-125 TESTING

23
Q

NCCN recommendations for BRCA 1 + 2 carriers PROSTATE

A

prostate specific antigen test, rectal exam

24
Q

BRCA 2 Melanoma recommendations

A

yearly full body skin + eye exams

25
Q

AJ founder mutations

A

BRCA 1 187delAG, BRCA1 5385insC, BRCA2 617delT

26
Q

BRCA2 Fanconi Anemia

A

AR; bone marrow failure, physical abnormalities, organ defects, increased risk for certain cancers; onset 6-8 years old; patients cannot undergo radiation

27
Q

Genes associated with Hereditary Breast Cancer

A

BRCA1/2, PALB2, PTEN (Cowden), TP53 (Li-Fraumeni), CDH1(Hereditary Diffuse Gastric Cancer syndrome), STK11 (Puetz-Jeghers), ATM, CHEK2, NF1 (Neurofibromatosis type 1), MSH6 + PMS2 (Lynch), BARD1, BRIP1, RAD51 + RAD51…

28
Q

ATM

A

AD, 17-33% increase chance of breast cancer, also associated to increase risk of ovarian, pancreatic and prostate cancer
Ataxia Telangiectasiaa hereditary condition characterized by progressive neurologic problems that lead to difficulty walking and an increased risk of developing various types of cancer

29
Q

BARD1

A

AD; 15-40% absolute risk; no other known cancer risks

30
Q

BRIP1

A

AD; increased risk for breast and ovarian; counsel about Fanconi Anemia

31
Q

CDH1

A

AD; Hereditary diffuse gastric cancer syndrome
39-52% breast cancer risk
33-83% gastric cancer risks
prophylactic total gastrectomy is recommended between ages of 18 and 40; Under 18 is not recommended unless FHX of dx of gastric cancer before 25
upper endoscopy with multiple random biopsies every 6-12 months for should be offered to patients who elect to not pursue surgery, however may not adequately catch cancer

32
Q

CHEK2

A

AD; 28-37% breast cancer risk, also increased risks for colon cancer; colonoscopy every 5 years at age 40 or 10 years prior to 1st degree relative dx

33
Q

PALB2

A

AD; 33-58% breast cancer risks; risks for male breast cancer, pancreatic cancer, ovarian cancer, and prostate cancer

34
Q

MSH6, PMS2

A

Lynch genes; AD
increased risk for female breast, CRC, endometrial, ovarian, gastric, pancreas, bladder, biliary tract, urothelial, small bowel, prostate, Brian, CNS

35
Q

NF1

A

Neurofibromatosis type 1; AD
increase risk for breast cancer, brain tumors, leukemia, gastrointestinal stromal tumors, paragangliomas, and pheochrodmosytomas
cafe au lait spots; inguinal or genital freckling, neurofibromas or gliomas, linch nodules, skeletal dysplasia, learning disabilities

36
Q

PTEN

A

Cowden syndrome; AD
Increased risks for breast, thyroid, kidney, uterine/endometiral, colorectal, melanoma
Major criteria: breast cancer, endometrial cancer, follicular thyroid cancer, multiple GI hamartomas or ganglioneruomas, one biopsy proven trichelemmoma …
minor criteria: ASD, colon cancer, lipoma, thyroid structure lesions…

37
Q

PTEN Management

A

annual comprehensive physical exams (including skin & thyroid), clinical breast exam yearly start at 25 or 5-10 years before earliest dx
colposcopy and endometrial screenings at 35
renal US at 45

38
Q

RAD51C, RAD51D

A

AD; Risks for breast and ovarian cancer
counsel about Fanconi Anemia

39
Q

STK11

A

Peutz-Jeghers Syndrome; AD
Increased risks for: breast: CRC, pancreatic, stomach, ovarian, lung, small intestine, cervical, uterine, testicular

40
Q

TP53/ P53

A

BONES, BRAIN, BLOOD, BREAST
Li-Fraumeni; AD
increased risks for breast, CRC, endometrial, gastric, melanoma, ovarian, pancreatic, prostate, brain, sarcoma, leukemia, lymphoma

41
Q

Classic Li-Fraumeni Criteria

A

Combo of pt dx with sarcoma under 45 and a 1st degree relative diagnosed with cancer under 45 and additional 1st or 2nd degree family member of same lineage dx with cancer under 45 or sarcoma at any age

42
Q

Chompet Li-Fraumeni Criteria

A

Pt with tumor from LFS tumor spectrum (soft tissue sarcoma, osteosarcoma, CNS tumor, breast cancer, adrenocortical carcinoma) before 46 AND at least one 1st or 2nd relative with any of the mentioned cancers before 56 or multiple primaires at any age
OR
PT with multiple tumors (not breast tumors); two of which are LFS tumors w/ initial cancer before 45
OR
PT with adrenocortical carcinoma, or choroid plexus carcinoma or rhabdomyosarcoma, of embryonal analplastic subtype
OR breast cancer before 31