BRCA2 Mutation: 22 Real Stories

22 stories match BRCA2 mutation. 16 of them mention surgery.

Cancer Stories

Heiner, who was diagnosed with Breast CancerBreast Cancer

BRCA2 Breast Cancer: Heiner's Survivor Story

Patient Info: Heiner Töpfer, Male, 60s

Biomarkers: BRCA2 mutation

Heiner completed treatment for localized male breast cancer, continued surveillance because of a BRCA2 mutation, later had prostatectomy for prostate cancer, and became active in advocacy for men with breast cancer.

Krankheitserfahrungen.de
OutcomeSurvivorship / Completed Treatment
Tanja, who was diagnosed with Breast CancerBreast Cancer

BRCA2 Breast Cancer: Tanja's Patient Story

Patient Info: Tanja Auer, Female, 40s

Biomarkers: BRCA2 mutation

Tanja completed treatment for breast cancer in both breasts, learned she carries a BRCA2 mutation, continued close surveillance, and was considering preventive ovary removal while awaiting genetic-test implications for her daughters.

Krankheitserfahrungen.de
OutcomeCare Ongoing
Rachel, who was diagnosed with Stage II Breast CancerBreast Cancer

Stage II BRCA2 Breast Cancer: Rachel's Patient Story

Patient Info: Rachel Zitofsky, Female, Under 40 | Stage II

Biomarkers: BRCA2 mutation

Rachel was doing well 4.5 years after Stage II breast cancer diagnosis and continued tamoxifen; her BRCA2 result also led her sister to expanded testing and preventive care.

Memorial Sloan Kettering
OutcomeCare Ongoing
Erika, who was diagnosed with Breast CancerBreast Cancer

BRCA2 Breast Cancer: Erika's Patient Story

Patient Info: Erika, Female, Under 40

Biomarkers: BRCA2 mutation

As of June 2026, Erika had no cancer diagnosis after a BRCA2-positive result and preventive double mastectomy with implant reconstruction, with ongoing hereditary-risk surveillance.

The Patient Story
OutcomeCare Ongoing
Marissa, who was diagnosed with Stage IV Invasive Lobular CarcinomaBreast Cancer

Stage IV BRCA2 Invasive Lobular Carcinoma: Marissa's Patient Story

Patient Info: Marissa, Female, Under 40 | Stage IV

Biomarkers: BRCA2 mutation; HER2-negative; PARP inhibitor resistance/progression described

Metastatic Site: bone marrow / bone; lymph nodes; skull lesions

Marissa’s breast tumors resolved after hormone blockers, but she remained in active treatment for Stage IV disease involving bone marrow/bone, lymph nodes, and skull lesions.

The Patient Story
OutcomeResponding Well
A patient, who was diagnosed with Stage I Invasive Ductal CarcinomaBreast Cancer

Breast Cancer in a Woman Carrying Both BRCA1 and BRCA2 Mutations

Patient Info: Anonymized, Female | Stage I

Biomarkers: ER-positive, PR-positive, HER2-negative, BRCA1 pathogenic variant, BRCA2 pathogenic variant

Remained free of recurrence 17 months after treatment.

PubMed Central
OutcomeCancer-Free / NED
A patient, who was diagnosed with Stage IV Breast CancerBreast Cancer

Stage 4 hormone receptor-positive breast cancer: remission with PARP inhibitor

Patient Info: Anonymized, Female, 40s | Stage IV

Biomarkers: HR-positive breast cancer with HER2-low/negative recurrence, and pathogenic BRCA2 R2318* mutation.

Metastatic Site: pleura

As of January 2025, she had maintained complete response for 36 months after sequential FEC/docetaxel and olaparib for hormone receptor-positive, HER2-negative/HER2-low metastatic breast cancer with BRCA2 R2318* mutation.

PubMed Central
OutcomeCancer-Free / NED
A patient, who was diagnosed with Stage III Colorectal AdenocarcinomaColorectal Cancer

Stage III MSI-H/dMMR ascending colon cancer: complete response to pembrolizumab without surgery

Patient Info: Anonymized, Female, 70+ | Stage III

Biomarkers: dMMR/MSI-H with high TMB, BRAF, BRCA2 mutation, KRAS/NRAS wild-type, HER2-negative, PD-L1-negative; Lynch testing negative.

After 10 months of pembrolizumab, PET/CT showed complete metabolic response and colonoscopy biopsies were negative for malignancy; she continued nonoperative management after declining surgery.

PubMed Central
OutcomeCancer-Free / NED
A patient, who was diagnosed with Stage IV Lung CancerLung Cancer

Metastatic lung cancer causing severe vena cava obstruction

Patient Info: Anonymized, Male, 70+ | Stage IV

Biomarkers: BRCA2 functional variant

Metastatic Site: bilateral adrenal glands, bone, pleura, lungs,…

Progressive metastatic lung cancer caused rapidly enlarging adrenal disease, worsening bone, pleural, pulmonary and nodal metastases, and malignant inferior vena cava obstruction. Endovascular iliocaval reconstruction restored venous flow without immediate complications.

PubMed Central
OutcomeSetback / Progression
A patient, who was diagnosed with Stage IV Invasive Ductal CarcinomaBreast Cancer

BRCA2-mutant metastatic breast cancer: complete response with rucaparib maintenance

Patient Info: Anonymized, Female, Under 40 | Stage IV

Biomarkers: Germline BRCA2 mutation; somatic BRCA2 mutation; HER2 amplification not seen by FISH; grade III IDC

Metastatic Site: bone

She maintained a complete response for 2 years on rucaparib, letrozole, and zoledronic acid after upfront metastatic BRCA2-mutated breast cancer involving bone, axillary nodes, and right-breast nodules.

PubMed Central
OutcomeCancer-Free / NED
A patient, who was diagnosed with Stage III Invasive Ductal CarcinomaBreast Cancer

Triple-negative breast cancer and ovarian cancer treated with chemotherapy and PARP inhibitor

Patient Info: Anonymized, Female, 40s | Stage III

Biomarkers: Germline pathogenic BRCA2 c.6468_6469del; breast tumor triple-negative

As of April 2024, 6-week follow-up after breast and nodal radiation was unremarkable, erythema had resolved, and no breast, chest wall, respiratory, or axillary abnormality was found; longer-term control was not reported.

PubMed Central
OutcomeCare Ongoing
A patient, who was diagnosed with Stage IV Lung AdenocarcinomaLung Cancer

BRCA2-Mutated Metastatic Lung Adenocarcinoma Controlled for 30 Months With Olaparib

Patient Info: Anonymized, female, 60s | Stage IV

Biomarkers: PD-L1-negative; BRCA2 mutation; ATM mutation; EGFR-negative; ALK-negative

Metastatic Site: brain

Olaparib provided about 30 months of disease control, and PET imaging remained overall stable when a separate new breast primary was found in February 2023.

PubMed Central
OutcomeStable Disease
Sue, who was diagnosed with Breast CancerBreast Cancer

BRCA2 Breast Cancer: Sue's Survivor Story

Patient Info: Sue Friedman, Female, Under 40

Biomarkers: BRCA2 mutation

As of February 2023, Sue Friedman was a long-term breast cancer survivor and founder of FORCE after a BRCA2-associated breast cancer and recurrence; the video is educational and does not state current active disease, NED, or metastatic status for Sue.

The Patient Story
OutcomeSurvivorship / Completed Treatment
Kara, who was diagnosed with Breast CancerBreast Cancer

Triple-Negative Breast Cancer: Kara's Survivor Story

Patient Info: Kara Niewohner, Female, 40s

Biomarkers: BRCA2 mutation; triple-negative

No trace of breast cancer remained after the September 2021 double mastectomy, and no radiation or additional breast-cancer treatment was needed.

Dana-Farber
OutcomeCancer-Free / NED
Julie, who was diagnosed with Stage IV Invasive Lobular CarcinomaBreast Cancer

Stage IV BRCA2 Invasive Lobular Carcinoma: Julie's Patient Story

Patient Info: Julie, Female, Under 40 | Stage IV

Biomarkers: BRCA2 mutation

Metastatic Site: Bone

Julie was first staged IIA with lobular breast cancer in 2019, then learned after chemotherapy, surgery, and radiation that the cancer had spread to her bones, making it Stage IV metastatic disease.

Lobular Breast Cancer Alliance
OutcomeLiving With Cancer
A patient, who was diagnosed with Stage IV Invasive Ductal CarcinomaBreast Cancer

HER2-positive breast cancer diagnosed during pregnancy and later spread to bone and brain

Patient Info: Anonymized, Female, Under 40 | Stage IV

Biomarkers: Initial tumour: ER 0%, PR <1%, HER2 3+

Metastatic Site: bone (L3)|brain

After treatment and surveillance without new lesions, she developed a large symptomatic occipital brain metastasis 14 months after completing paclitaxel and radiation and died after rapid neurological deterioration.

PubMed Central
OutcomeIn Memory
Ashley, who was diagnosed with Stage III Breast CancerBreast Cancer

Stage III BRCA2 Breast Cancer: Ashley's Survivor Story

Patient Info: Ashley, female, Under 40 | Stage III

Biomarkers: BRCA2 positive; HER2 positive

Ashley described herself as cancer-free after chemotherapy, double mastectomy and 30 rounds of radiation, with 10 months of Herceptin planned.

MD Anderson
OutcomeCancer-Free / NED